Incidental Mutation 'R5207:Plxna2'
ID 402064
Institutional Source Beutler Lab
Gene Symbol Plxna2
Ensembl Gene ENSMUSG00000026640
Gene Name plexin A2
Synonyms PlexA2, 2810428A13Rik, Plxn2, OCT
MMRRC Submission 042782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5207 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 194302020-194499177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 194471207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 993 (T993A)
Ref Sequence ENSEMBL: ENSMUSP00000027952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027952]
AlphaFold P70207
PDB Structure Plexin A2 / Semaphorin 6A complex [X-RAY DIFFRACTION]
Mouse Plexin A2 extracellular domain [X-RAY DIFFRACTION]
Mouse Plexin A2, extracellular domains 1-4 [X-RAY DIFFRACTION]
Plexin A2 in complex with Semaphorin 6A [X-RAY DIFFRACTION]
Complex of mouse Plexin A2 - Semaphorin 3A - Neuropilin-1 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027952
AA Change: T993A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027952
Gene: ENSMUSG00000026640
AA Change: T993A

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Sema 50 492 1.65e-132 SMART
PSI 510 560 8e-12 SMART
PSI 655 702 6.35e-6 SMART
PSI 803 856 1.24e-8 SMART
IPT 857 952 6.36e-21 SMART
IPT 953 1038 1.02e-24 SMART
IPT 1040 1140 1.48e-21 SMART
IPT 1142 1237 8.81e-6 SMART
transmembrane domain 1238 1260 N/A INTRINSIC
Pfam:Plexin_cytopl 1311 1864 1.9e-261 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135664
SMART Domains Protein: ENSMUSP00000118087
Gene: ENSMUSG00000026640

DomainStartEndE-ValueType
PSI 9 62 1.24e-8 SMART
Meta Mutation Damage Score 0.0939 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,621,159 (GRCm39) probably benign Het
Alg6 C T 4: 99,607,431 (GRCm39) L15F possibly damaging Het
Allc T A 12: 28,605,325 (GRCm39) M325L probably benign Het
Ap3b2 T C 7: 81,126,517 (GRCm39) N361S possibly damaging Het
Bmp8b A G 4: 123,009,714 (GRCm39) probably benign Het
Borcs6 A T 11: 68,951,674 (GRCm39) T351S probably damaging Het
Ccar1 T C 10: 62,589,060 (GRCm39) R808G unknown Het
Celsr3 A T 9: 108,709,958 (GRCm39) T1480S probably benign Het
Chdh C T 14: 29,753,318 (GRCm39) P76S probably damaging Het
Chmp7 T C 14: 69,969,755 (GRCm39) S62G probably benign Het
Cldn23 A T 8: 36,293,182 (GRCm39) V102E probably damaging Het
Csn2 G A 5: 87,842,821 (GRCm39) Q69* probably null Het
Ctrc A C 4: 141,567,695 (GRCm39) I136S probably damaging Het
Cysltr2 A C 14: 73,266,951 (GRCm39) L253R probably damaging Het
Ddr2 G A 1: 169,812,530 (GRCm39) T654M probably damaging Het
Derl2 G T 11: 70,910,073 (GRCm39) probably null Het
Dnai7 A T 6: 145,124,794 (GRCm39) D510E probably damaging Het
Dock5 T C 14: 68,013,733 (GRCm39) S1330G probably benign Het
Emp3 T C 7: 45,569,373 (GRCm39) N56S probably benign Het
Fam161a A T 11: 22,970,583 (GRCm39) K195* probably null Het
Ficd T A 5: 113,875,072 (GRCm39) V47E probably benign Het
Garin3 T C 11: 46,295,990 (GRCm39) S121P probably benign Het
Gbp10 T C 5: 105,372,575 (GRCm39) T123A probably benign Het
Gdf7 C T 12: 8,348,371 (GRCm39) A309T unknown Het
Gm14486 G T 2: 30,548,572 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,307,151 (GRCm39) C990* probably null Het
Itgb4 T C 11: 115,897,365 (GRCm39) V1530A probably damaging Het
Itpka G A 2: 119,580,974 (GRCm39) R374H probably damaging Het
Lacc1 T A 14: 77,271,594 (GRCm39) probably null Het
Med23 A T 10: 24,771,734 (GRCm39) K225* probably null Het
Mrgpra3 T A 7: 47,239,909 (GRCm39) T6S probably benign Het
Mroh7 T A 4: 106,578,583 (GRCm39) N32Y probably damaging Het
Mrps2 A G 2: 28,359,763 (GRCm39) R207G probably damaging Het
Mup20 A C 4: 61,969,823 (GRCm39) probably null Het
Nagpa A G 16: 5,017,478 (GRCm39) probably null Het
Nek3 A T 8: 22,622,243 (GRCm39) probably benign Het
Nes G A 3: 87,885,935 (GRCm39) G1398E probably damaging Het
Nf1 G T 11: 79,345,015 (GRCm39) V1323L probably damaging Het
Or5b96 T A 19: 12,867,801 (GRCm39) I47F probably benign Het
Or6b2 A T 1: 92,407,594 (GRCm39) F250I probably benign Het
Or6c2 T C 10: 129,362,773 (GRCm39) F226L probably benign Het
Paqr8 G T 1: 21,005,482 (GRCm39) C212F probably benign Het
Pcdhb1 T C 18: 37,399,515 (GRCm39) Y489H probably damaging Het
Piwil2 T C 14: 70,629,966 (GRCm39) K683E probably damaging Het
Pjvk A C 2: 76,480,734 (GRCm39) probably null Het
Pkd1l3 A T 8: 110,359,823 (GRCm39) S893C probably damaging Het
Ppp2r2b A T 18: 42,821,417 (GRCm39) I247N probably damaging Het
Rac2 T C 15: 78,449,654 (GRCm39) N92S probably damaging Het
Senp2 A T 16: 21,860,130 (GRCm39) H501L possibly damaging Het
Snx29 A T 16: 11,556,227 (GRCm39) I753F probably damaging Het
Tcf20 T A 15: 82,740,386 (GRCm39) H355L probably damaging Het
Tex2 T C 11: 106,437,666 (GRCm39) D668G unknown Het
Tlr12 G A 4: 128,510,502 (GRCm39) Q583* probably null Het
Tmem119 T C 5: 113,933,289 (GRCm39) I171V probably damaging Het
Ube2m C T 7: 12,770,249 (GRCm39) probably null Het
Vmn2r25 A T 6: 123,817,062 (GRCm39) I173N probably damaging Het
Whrn A T 4: 63,350,951 (GRCm39) V15E probably damaging Het
Zfp558 A C 9: 18,368,296 (GRCm39) V164G possibly damaging Het
Other mutations in Plxna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Plxna2 APN 1 194,326,965 (GRCm39) missense probably damaging 1.00
IGL00332:Plxna2 APN 1 194,472,138 (GRCm39) missense probably damaging 0.98
IGL00392:Plxna2 APN 1 194,482,876 (GRCm39) missense probably damaging 1.00
IGL00432:Plxna2 APN 1 194,326,404 (GRCm39) missense probably benign 0.03
IGL00704:Plxna2 APN 1 194,433,769 (GRCm39) missense probably damaging 0.99
IGL00737:Plxna2 APN 1 194,428,547 (GRCm39) splice site probably benign
IGL01078:Plxna2 APN 1 194,469,001 (GRCm39) unclassified probably benign
IGL01354:Plxna2 APN 1 194,444,743 (GRCm39) missense probably benign 0.02
IGL01432:Plxna2 APN 1 194,326,626 (GRCm39) missense possibly damaging 0.58
IGL01459:Plxna2 APN 1 194,446,878 (GRCm39) missense probably benign 0.00
IGL01525:Plxna2 APN 1 194,394,619 (GRCm39) missense probably benign 0.00
IGL01656:Plxna2 APN 1 194,472,469 (GRCm39) missense possibly damaging 0.52
IGL01825:Plxna2 APN 1 194,471,210 (GRCm39) missense probably damaging 0.98
IGL01862:Plxna2 APN 1 194,326,258 (GRCm39) missense possibly damaging 0.87
IGL01899:Plxna2 APN 1 194,433,796 (GRCm39) missense probably damaging 1.00
IGL01996:Plxna2 APN 1 194,482,084 (GRCm39) missense probably damaging 0.99
IGL02123:Plxna2 APN 1 194,476,691 (GRCm39) missense probably damaging 1.00
IGL02226:Plxna2 APN 1 194,326,732 (GRCm39) missense probably damaging 1.00
IGL02227:Plxna2 APN 1 194,434,397 (GRCm39) missense probably damaging 1.00
IGL02415:Plxna2 APN 1 194,326,272 (GRCm39) missense probably damaging 1.00
IGL02440:Plxna2 APN 1 194,428,458 (GRCm39) missense probably benign 0.10
IGL02545:Plxna2 APN 1 194,468,998 (GRCm39) unclassified probably benign
IGL02553:Plxna2 APN 1 194,433,746 (GRCm39) missense probably benign 0.08
IGL02882:Plxna2 APN 1 194,444,878 (GRCm39) missense probably damaging 1.00
IGL02946:Plxna2 APN 1 194,431,617 (GRCm39) splice site probably benign
IGL03062:Plxna2 APN 1 194,444,858 (GRCm39) missense possibly damaging 0.72
IGL03095:Plxna2 APN 1 194,483,435 (GRCm39) missense probably damaging 1.00
IGL03293:Plxna2 APN 1 194,487,253 (GRCm39) missense probably damaging 0.99
G1Funyon:Plxna2 UTSW 1 194,472,483 (GRCm39) missense probably benign 0.01
PIT4514001:Plxna2 UTSW 1 194,477,245 (GRCm39) missense probably benign 0.00
R0024:Plxna2 UTSW 1 194,326,303 (GRCm39) missense possibly damaging 0.57
R0040:Plxna2 UTSW 1 194,326,204 (GRCm39) missense probably benign 0.13
R0040:Plxna2 UTSW 1 194,326,204 (GRCm39) missense probably benign 0.13
R0063:Plxna2 UTSW 1 194,327,247 (GRCm39) missense probably benign 0.00
R0063:Plxna2 UTSW 1 194,327,247 (GRCm39) missense probably benign 0.00
R0217:Plxna2 UTSW 1 194,326,906 (GRCm39) missense probably damaging 1.00
R0316:Plxna2 UTSW 1 194,326,458 (GRCm39) missense probably damaging 1.00
R0440:Plxna2 UTSW 1 194,326,712 (GRCm39) nonsense probably null
R0505:Plxna2 UTSW 1 194,326,656 (GRCm39) missense possibly damaging 0.93
R0568:Plxna2 UTSW 1 194,433,694 (GRCm39) missense probably benign 0.00
R0669:Plxna2 UTSW 1 194,471,145 (GRCm39) missense probably damaging 0.99
R0674:Plxna2 UTSW 1 194,331,783 (GRCm39) missense probably benign 0.00
R0885:Plxna2 UTSW 1 194,326,864 (GRCm39) missense probably benign
R0898:Plxna2 UTSW 1 194,479,332 (GRCm39) missense probably damaging 1.00
R0940:Plxna2 UTSW 1 194,482,863 (GRCm39) missense probably benign 0.01
R1061:Plxna2 UTSW 1 194,326,401 (GRCm39) missense probably damaging 1.00
R1067:Plxna2 UTSW 1 194,462,818 (GRCm39) splice site probably null
R1222:Plxna2 UTSW 1 194,482,957 (GRCm39) missense probably damaging 1.00
R1345:Plxna2 UTSW 1 194,326,794 (GRCm39) missense probably damaging 1.00
R1363:Plxna2 UTSW 1 194,487,247 (GRCm39) nonsense probably null
R1432:Plxna2 UTSW 1 194,449,771 (GRCm39) missense probably benign 0.10
R1434:Plxna2 UTSW 1 194,433,848 (GRCm39) splice site probably benign
R1597:Plxna2 UTSW 1 194,431,614 (GRCm39) splice site probably benign
R1719:Plxna2 UTSW 1 194,326,678 (GRCm39) missense possibly damaging 0.93
R1778:Plxna2 UTSW 1 194,493,278 (GRCm39) missense probably benign 0.01
R1795:Plxna2 UTSW 1 194,488,611 (GRCm39) missense probably damaging 0.99
R1819:Plxna2 UTSW 1 194,472,494 (GRCm39) missense probably benign 0.03
R1926:Plxna2 UTSW 1 194,444,758 (GRCm39) missense probably benign 0.02
R1966:Plxna2 UTSW 1 194,327,008 (GRCm39) missense possibly damaging 0.91
R1987:Plxna2 UTSW 1 194,326,297 (GRCm39) missense probably damaging 1.00
R1988:Plxna2 UTSW 1 194,326,297 (GRCm39) missense probably damaging 1.00
R2034:Plxna2 UTSW 1 194,462,902 (GRCm39) missense probably benign 0.00
R2131:Plxna2 UTSW 1 194,327,058 (GRCm39) missense probably benign 0.01
R2171:Plxna2 UTSW 1 194,482,925 (GRCm39) missense probably damaging 1.00
R2217:Plxna2 UTSW 1 194,480,056 (GRCm39) missense probably damaging 1.00
R2311:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R2340:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R2342:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R2423:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R2424:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R2425:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R2842:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R2971:Plxna2 UTSW 1 194,480,039 (GRCm39) missense probably damaging 1.00
R3236:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R3731:Plxna2 UTSW 1 194,471,193 (GRCm39) missense probably benign 0.42
R3783:Plxna2 UTSW 1 194,489,829 (GRCm39) missense probably damaging 1.00
R3784:Plxna2 UTSW 1 194,326,925 (GRCm39) missense probably benign
R3787:Plxna2 UTSW 1 194,326,242 (GRCm39) missense probably benign 0.10
R3845:Plxna2 UTSW 1 194,476,098 (GRCm39) missense probably damaging 0.96
R3927:Plxna2 UTSW 1 194,428,465 (GRCm39) missense probably benign 0.02
R3930:Plxna2 UTSW 1 194,477,218 (GRCm39) missense probably benign 0.17
R3964:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R3980:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4067:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4120:Plxna2 UTSW 1 194,462,935 (GRCm39) missense probably damaging 1.00
R4231:Plxna2 UTSW 1 194,326,762 (GRCm39) missense probably damaging 1.00
R4257:Plxna2 UTSW 1 194,327,083 (GRCm39) missense probably damaging 1.00
R4396:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4397:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4418:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4444:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4446:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4482:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4487:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4489:Plxna2 UTSW 1 194,431,625 (GRCm39) missense probably damaging 1.00
R4571:Plxna2 UTSW 1 194,493,296 (GRCm39) missense possibly damaging 0.91
R4622:Plxna2 UTSW 1 194,494,458 (GRCm39) missense probably benign
R4623:Plxna2 UTSW 1 194,494,458 (GRCm39) missense probably benign
R4684:Plxna2 UTSW 1 194,444,902 (GRCm39) missense probably benign 0.42
R4688:Plxna2 UTSW 1 194,326,753 (GRCm39) missense probably damaging 1.00
R4855:Plxna2 UTSW 1 194,480,040 (GRCm39) missense probably benign 0.39
R4876:Plxna2 UTSW 1 194,326,083 (GRCm39) missense probably benign 0.02
R5161:Plxna2 UTSW 1 194,433,712 (GRCm39) missense probably benign
R5479:Plxna2 UTSW 1 194,476,181 (GRCm39) missense probably benign
R5931:Plxna2 UTSW 1 194,493,178 (GRCm39) missense probably damaging 1.00
R6026:Plxna2 UTSW 1 194,482,122 (GRCm39) missense probably damaging 1.00
R6029:Plxna2 UTSW 1 194,481,883 (GRCm39) missense probably damaging 1.00
R6029:Plxna2 UTSW 1 194,476,735 (GRCm39) missense probably benign 0.00
R6059:Plxna2 UTSW 1 194,493,279 (GRCm39) missense possibly damaging 0.79
R6238:Plxna2 UTSW 1 194,472,504 (GRCm39) missense probably benign 0.01
R6322:Plxna2 UTSW 1 194,436,675 (GRCm39) missense possibly damaging 0.89
R6668:Plxna2 UTSW 1 194,492,396 (GRCm39) missense possibly damaging 0.68
R6709:Plxna2 UTSW 1 194,472,074 (GRCm39) missense probably benign 0.01
R6748:Plxna2 UTSW 1 194,476,490 (GRCm39) splice site probably null
R6838:Plxna2 UTSW 1 194,487,222 (GRCm39) missense possibly damaging 0.90
R6844:Plxna2 UTSW 1 194,476,136 (GRCm39) missense probably benign 0.08
R7069:Plxna2 UTSW 1 194,476,212 (GRCm39) missense possibly damaging 0.51
R7122:Plxna2 UTSW 1 194,326,876 (GRCm39) nonsense probably null
R7145:Plxna2 UTSW 1 194,331,830 (GRCm39) missense probably benign 0.31
R7189:Plxna2 UTSW 1 194,483,366 (GRCm39) missense possibly damaging 0.58
R7207:Plxna2 UTSW 1 194,326,327 (GRCm39) missense probably damaging 1.00
R7232:Plxna2 UTSW 1 194,394,568 (GRCm39) missense probably damaging 1.00
R7234:Plxna2 UTSW 1 194,488,698 (GRCm39) missense probably damaging 0.96
R7246:Plxna2 UTSW 1 194,326,590 (GRCm39) missense possibly damaging 0.74
R7255:Plxna2 UTSW 1 194,434,411 (GRCm39) missense probably benign 0.03
R7283:Plxna2 UTSW 1 194,327,191 (GRCm39) missense probably damaging 0.99
R7288:Plxna2 UTSW 1 194,479,227 (GRCm39) missense probably damaging 1.00
R7361:Plxna2 UTSW 1 194,482,087 (GRCm39) missense probably damaging 1.00
R7424:Plxna2 UTSW 1 194,488,647 (GRCm39) missense probably damaging 0.98
R7501:Plxna2 UTSW 1 194,326,203 (GRCm39) missense possibly damaging 0.95
R7528:Plxna2 UTSW 1 194,494,464 (GRCm39) missense probably damaging 1.00
R7529:Plxna2 UTSW 1 194,326,179 (GRCm39) missense probably benign 0.25
R7532:Plxna2 UTSW 1 194,327,127 (GRCm39) missense probably benign 0.13
R7959:Plxna2 UTSW 1 194,493,270 (GRCm39) missense probably damaging 1.00
R7959:Plxna2 UTSW 1 194,476,172 (GRCm39) frame shift probably null
R7960:Plxna2 UTSW 1 194,476,172 (GRCm39) frame shift probably null
R8261:Plxna2 UTSW 1 194,431,724 (GRCm39) missense probably damaging 1.00
R8301:Plxna2 UTSW 1 194,472,483 (GRCm39) missense probably benign 0.01
R8463:Plxna2 UTSW 1 194,326,354 (GRCm39) missense probably damaging 1.00
R8519:Plxna2 UTSW 1 194,476,266 (GRCm39) missense probably damaging 1.00
R8836:Plxna2 UTSW 1 194,479,243 (GRCm39) missense possibly damaging 0.94
R9010:Plxna2 UTSW 1 194,471,217 (GRCm39) missense possibly damaging 0.95
R9034:Plxna2 UTSW 1 194,476,197 (GRCm39) missense probably damaging 1.00
R9254:Plxna2 UTSW 1 194,492,474 (GRCm39) missense probably damaging 1.00
R9274:Plxna2 UTSW 1 194,471,136 (GRCm39) missense probably damaging 1.00
R9379:Plxna2 UTSW 1 194,492,474 (GRCm39) missense probably damaging 1.00
R9385:Plxna2 UTSW 1 194,431,724 (GRCm39) missense possibly damaging 0.95
R9422:Plxna2 UTSW 1 194,326,730 (GRCm39) missense probably damaging 1.00
R9451:Plxna2 UTSW 1 194,326,692 (GRCm39) missense probably benign 0.05
R9484:Plxna2 UTSW 1 194,327,202 (GRCm39) missense probably damaging 1.00
X0027:Plxna2 UTSW 1 194,326,741 (GRCm39) missense probably damaging 1.00
Z1088:Plxna2 UTSW 1 194,446,847 (GRCm39) missense probably benign 0.06
Z1088:Plxna2 UTSW 1 194,326,749 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- GGTCTATCCTTGGACCTAAGC -3'
(R):5'- TGAAACTTAGCCTGGGGAGC -3'

Sequencing Primer
(F):5'- CTAAGCTAGGAATGTTTCTCTGTTTC -3'
(R):5'- GGAGCTCCTGGAGTTATTCC -3'
Posted On 2016-07-22