Incidental Mutation 'R0401:Pom121l2'
ID 38243
Institutional Source Beutler Lab
Gene Symbol Pom121l2
Ensembl Gene ENSMUSG00000016982
Gene Name POM121 transmembrane nucleoporin like 2
Synonyms LOC195236
MMRRC Submission 038606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0401 (G1)
Quality Score 195
Status Validated
Chromosome 13
Chromosomal Location 22165364-22172904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22166395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 222 (D222V)
Ref Sequence ENSEMBL: ENSMUSP00000017126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017126] [ENSMUST00000117882]
AlphaFold Q5SW25
Predicted Effect probably benign
Transcript: ENSMUST00000017126
AA Change: D222V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: D222V

DomainStartEndE-ValueType
low complexity region 42 60 N/A INTRINSIC
Pfam:POM121 162 301 3.5e-24 PFAM
low complexity region 367 379 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
low complexity region 517 526 N/A INTRINSIC
low complexity region 558 572 N/A INTRINSIC
low complexity region 697 712 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117882
AA Change: D222V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: D222V

DomainStartEndE-ValueType
low complexity region 42 60 N/A INTRINSIC
Pfam:POM121 162 301 2e-24 PFAM
low complexity region 367 379 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,776,067 (GRCm39) H1752L possibly damaging Het
Abcc5 T C 16: 20,195,308 (GRCm39) K730E probably benign Het
Ahnak A G 19: 8,992,480 (GRCm39) D4588G probably benign Het
AI467606 G A 7: 126,691,608 (GRCm39) R61H probably damaging Het
Apoa4 T A 9: 46,154,356 (GRCm39) V319E probably damaging Het
Ark2n C A 18: 77,761,658 (GRCm39) S218I probably damaging Het
Atad5 T A 11: 80,011,525 (GRCm39) D1297E probably benign Het
BC005624 G A 2: 30,870,021 (GRCm39) T62I probably benign Het
Bcl6 T C 16: 23,791,344 (GRCm39) K337E probably damaging Het
Cad T A 5: 31,231,330 (GRCm39) probably benign Het
Ccdc73 T C 2: 104,821,634 (GRCm39) S528P probably benign Het
Ccng2 T G 5: 93,421,272 (GRCm39) C261G possibly damaging Het
Cdh11 A T 8: 103,400,638 (GRCm39) I110N probably damaging Het
Cgnl1 A G 9: 71,612,521 (GRCm39) V767A probably damaging Het
Cit A G 5: 116,123,538 (GRCm39) T1460A probably benign Het
Clec4b2 C T 6: 123,158,259 (GRCm39) Q42* probably null Het
Clip1 A G 5: 123,791,852 (GRCm39) V106A probably damaging Het
Crb1 T C 1: 139,126,529 (GRCm39) probably benign Het
Cts6 T C 13: 61,346,153 (GRCm39) probably benign Het
Cul9 T C 17: 46,852,630 (GRCm39) E244G probably damaging Het
Dcaf8l C A X: 88,448,815 (GRCm39) R438L probably benign Het
Ddx55 A T 5: 124,706,014 (GRCm39) I480F probably damaging Het
Dixdc1 A G 9: 50,604,974 (GRCm39) S17P possibly damaging Het
Drosha T A 15: 12,926,117 (GRCm39) Y1235* probably null Het
Dsg2 G T 18: 20,725,565 (GRCm39) probably benign Het
E2f5 T C 3: 14,644,085 (GRCm39) probably null Het
Epc2 A G 2: 49,418,986 (GRCm39) T265A probably damaging Het
Etaa1 T G 11: 17,897,514 (GRCm39) D201A probably damaging Het
Fancd2 T C 6: 113,525,304 (GRCm39) I260T possibly damaging Het
Fhdc1 G A 3: 84,351,931 (GRCm39) A1098V probably benign Het
Gpd2 G A 2: 57,230,105 (GRCm39) V286I possibly damaging Het
Gpr141b A T 13: 19,913,664 (GRCm39) noncoding transcript Het
H2-T9 C T 17: 36,439,597 (GRCm39) V128M probably damaging Het
Herc2 A C 7: 55,807,480 (GRCm39) E2523A probably damaging Het
Irag1 G A 7: 110,476,104 (GRCm39) P757S probably benign Het
Jmjd1c G A 10: 67,056,161 (GRCm39) R527H probably damaging Het
Kif12 G A 4: 63,087,762 (GRCm39) probably benign Het
Lrp2 A T 2: 69,309,492 (GRCm39) N2802K probably damaging Het
Mab21l2 C G 3: 86,454,296 (GRCm39) G235R probably benign Het
Mapk8 T C 14: 33,104,165 (GRCm39) E417G probably benign Het
Mapk8ip3 G A 17: 25,128,145 (GRCm39) probably benign Het
Mettl1 A G 10: 126,880,946 (GRCm39) T203A probably benign Het
Mettl9 T C 7: 120,675,536 (GRCm39) V312A probably damaging Het
Mex3d A G 10: 80,222,728 (GRCm39) V176A probably benign Het
Mmp3 T C 9: 7,449,790 (GRCm39) S225P probably damaging Het
Neb G A 2: 52,078,689 (GRCm39) probably benign Het
Ninj2 C T 6: 120,175,012 (GRCm39) A51V possibly damaging Het
Nle1 A G 11: 82,796,205 (GRCm39) probably benign Het
Nol9 T C 4: 152,137,062 (GRCm39) Y532H probably benign Het
Nr2c1 T A 10: 94,007,020 (GRCm39) V286E probably benign Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or4c31 T G 2: 88,292,269 (GRCm39) L195R probably damaging Het
Or52e18 T A 7: 104,609,150 (GRCm39) H263L probably damaging Het
Or5p4 T A 7: 107,680,079 (GRCm39) I26N possibly damaging Het
Or6c69 A G 10: 129,747,785 (GRCm39) Y121H probably benign Het
Or6f1 T C 7: 85,970,500 (GRCm39) Y220C probably benign Het
Or9k7 A G 10: 130,046,489 (GRCm39) L170P probably damaging Het
Ovch2 A T 7: 107,400,343 (GRCm39) V15D probably damaging Het
Pate8 G T 9: 36,493,924 (GRCm39) A3E unknown Het
Pclo T G 5: 14,731,748 (GRCm39) S3417A unknown Het
Pex1 T A 5: 3,683,759 (GRCm39) M1085K probably damaging Het
Plscr2 T C 9: 92,164,188 (GRCm39) S6P probably benign Het
Pogz C T 3: 94,784,336 (GRCm39) P722S possibly damaging Het
Prpf40a T C 2: 53,049,325 (GRCm39) Y179C probably damaging Het
R3hdm2 A G 10: 127,294,042 (GRCm39) I179V possibly damaging Het
Ranbp9 A C 13: 43,576,134 (GRCm39) V355G probably damaging Het
Rims2 T C 15: 39,373,028 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,570 (GRCm39) S2693T probably benign Het
Sbno1 G A 5: 124,548,348 (GRCm39) T111I probably damaging Het
Sdk1 A C 5: 142,031,916 (GRCm39) N997T possibly damaging Het
Setx G T 2: 29,056,301 (GRCm39) E39* probably null Het
Skint7 T A 4: 111,837,559 (GRCm39) N112K probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a10 A T 2: 62,021,192 (GRCm39) D80V probably benign Het
Susd2 C A 10: 75,474,437 (GRCm39) probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcf3 G T 10: 80,256,992 (GRCm39) S77R probably damaging Het
Tdpoz3 T C 3: 93,733,672 (GRCm39) Y116H probably benign Het
Tex26 C A 5: 149,384,323 (GRCm39) D164E probably benign Het
Thoc5 G A 11: 4,852,213 (GRCm39) probably benign Het
Tiparp A G 3: 65,438,857 (GRCm39) R58G probably benign Het
Trim66 A T 7: 109,074,471 (GRCm39) C597S probably damaging Het
Ugt2a3 T A 5: 87,484,349 (GRCm39) Q225L probably benign Het
Vmn1r25 T A 6: 57,955,696 (GRCm39) I198L probably benign Het
Vmn2r106 A T 17: 20,499,281 (GRCm39) V210D possibly damaging Het
Vmn2r124 T C 17: 18,284,407 (GRCm39) F483L probably damaging Het
Vmn2r78 A G 7: 86,570,519 (GRCm39) K346E probably benign Het
Zfhx4 T A 3: 5,466,221 (GRCm39) S2126R possibly damaging Het
Zfp608 C T 18: 55,032,066 (GRCm39) G625R probably benign Het
Zkscan5 A G 5: 145,149,385 (GRCm39) D234G probably damaging Het
Zscan10 T A 17: 23,824,889 (GRCm39) V115E probably damaging Het
Other mutations in Pom121l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Pom121l2 APN 13 22,166,445 (GRCm39) missense possibly damaging 0.70
IGL02223:Pom121l2 APN 13 22,166,265 (GRCm39) missense probably benign 0.01
R0402:Pom121l2 UTSW 13 22,172,649 (GRCm39) splice site probably benign
R0437:Pom121l2 UTSW 13 22,167,375 (GRCm39) missense possibly damaging 0.72
R0575:Pom121l2 UTSW 13 22,168,338 (GRCm39) missense probably damaging 0.99
R0605:Pom121l2 UTSW 13 22,166,206 (GRCm39) missense probably damaging 1.00
R0892:Pom121l2 UTSW 13 22,166,644 (GRCm39) missense possibly damaging 0.49
R0992:Pom121l2 UTSW 13 22,166,929 (GRCm39) missense probably benign 0.01
R1259:Pom121l2 UTSW 13 22,166,297 (GRCm39) nonsense probably null
R1564:Pom121l2 UTSW 13 22,167,523 (GRCm39) missense possibly damaging 0.86
R1603:Pom121l2 UTSW 13 22,167,514 (GRCm39) missense probably damaging 1.00
R1836:Pom121l2 UTSW 13 22,167,954 (GRCm39) missense probably benign 0.03
R1970:Pom121l2 UTSW 13 22,167,642 (GRCm39) missense probably damaging 0.98
R2018:Pom121l2 UTSW 13 22,166,904 (GRCm39) missense possibly damaging 0.54
R2180:Pom121l2 UTSW 13 22,166,145 (GRCm39) missense probably benign 0.08
R2277:Pom121l2 UTSW 13 22,168,417 (GRCm39) missense probably benign
R2365:Pom121l2 UTSW 13 22,167,954 (GRCm39) missense probably benign 0.20
R3951:Pom121l2 UTSW 13 22,166,298 (GRCm39) missense probably damaging 1.00
R4371:Pom121l2 UTSW 13 22,166,409 (GRCm39) missense probably benign 0.01
R4574:Pom121l2 UTSW 13 22,168,572 (GRCm39) missense probably benign 0.02
R4593:Pom121l2 UTSW 13 22,168,623 (GRCm39) missense probably damaging 1.00
R4983:Pom121l2 UTSW 13 22,167,984 (GRCm39) missense probably benign 0.02
R5320:Pom121l2 UTSW 13 22,166,015 (GRCm39) nonsense probably null
R5661:Pom121l2 UTSW 13 22,168,425 (GRCm39) missense possibly damaging 0.90
R5662:Pom121l2 UTSW 13 22,166,358 (GRCm39) missense probably benign 0.01
R5908:Pom121l2 UTSW 13 22,165,984 (GRCm39) missense probably damaging 0.99
R5980:Pom121l2 UTSW 13 22,167,546 (GRCm39) missense probably damaging 0.96
R6145:Pom121l2 UTSW 13 22,166,472 (GRCm39) nonsense probably null
R6160:Pom121l2 UTSW 13 22,167,838 (GRCm39) missense possibly damaging 0.52
R6327:Pom121l2 UTSW 13 22,166,502 (GRCm39) missense probably damaging 1.00
R6504:Pom121l2 UTSW 13 22,167,631 (GRCm39) missense possibly damaging 0.55
R6745:Pom121l2 UTSW 13 22,167,868 (GRCm39) missense probably benign 0.00
R6750:Pom121l2 UTSW 13 22,166,107 (GRCm39) missense probably damaging 1.00
R6752:Pom121l2 UTSW 13 22,165,939 (GRCm39) missense probably damaging 0.99
R6796:Pom121l2 UTSW 13 22,167,694 (GRCm39) missense probably benign 0.09
R6984:Pom121l2 UTSW 13 22,166,191 (GRCm39) missense probably benign 0.33
R7284:Pom121l2 UTSW 13 22,166,775 (GRCm39) missense probably damaging 1.00
R7287:Pom121l2 UTSW 13 22,168,502 (GRCm39) missense probably benign 0.16
R7568:Pom121l2 UTSW 13 22,166,796 (GRCm39) missense probably benign 0.03
R7624:Pom121l2 UTSW 13 22,167,699 (GRCm39) missense probably damaging 0.97
R7832:Pom121l2 UTSW 13 22,168,048 (GRCm39) missense possibly damaging 0.49
R7956:Pom121l2 UTSW 13 22,167,316 (GRCm39) missense probably damaging 1.00
R8103:Pom121l2 UTSW 13 22,166,544 (GRCm39) missense probably benign 0.00
R8506:Pom121l2 UTSW 13 22,167,789 (GRCm39) missense probably benign 0.04
R9167:Pom121l2 UTSW 13 22,167,160 (GRCm39) missense probably damaging 0.97
R9313:Pom121l2 UTSW 13 22,168,506 (GRCm39) missense probably benign 0.09
R9332:Pom121l2 UTSW 13 22,165,852 (GRCm39) missense probably damaging 1.00
R9463:Pom121l2 UTSW 13 22,168,402 (GRCm39) missense probably benign 0.18
Z1177:Pom121l2 UTSW 13 22,172,656 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACATGGAGTCCGGTGACAGTCAAG -3'
(R):5'- TGGCAAGGTATAGTTAGCAGGTCCC -3'

Sequencing Primer
(F):5'- GTCTCAAGAGTGGTGAACTCC -3'
(R):5'- AGGTGAGAATTAGGACTCTCTCC -3'
Posted On 2013-05-23