Incidental Mutation 'R6410:Camsap2'
ID 514566
Institutional Source Beutler Lab
Gene Symbol Camsap2
Ensembl Gene ENSMUSG00000041570
Gene Name calmodulin regulated spectrin-associated protein family, member 2
Synonyms 1600013L13Rik, 4930541M15Rik, Camsap1l1
MMRRC Submission 044383-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.671) question?
Stock # R6410 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 136195861-136273842 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 136273182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048309] [ENSMUST00000192001] [ENSMUST00000192314]
AlphaFold Q8C1B1
Predicted Effect probably benign
Transcript: ENSMUST00000048309
SMART Domains Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 239 322 3.6e-37 PFAM
low complexity region 379 388 N/A INTRINSIC
low complexity region 397 410 N/A INTRINSIC
low complexity region 483 491 N/A INTRINSIC
low complexity region 671 690 N/A INTRINSIC
low complexity region 706 711 N/A INTRINSIC
Pfam:CAMSAP_CC1 738 795 7.3e-28 PFAM
coiled coil region 878 916 N/A INTRINSIC
low complexity region 922 929 N/A INTRINSIC
low complexity region 943 956 N/A INTRINSIC
low complexity region 1028 1043 N/A INTRINSIC
low complexity region 1093 1107 N/A INTRINSIC
coiled coil region 1155 1227 N/A INTRINSIC
low complexity region 1242 1256 N/A INTRINSIC
CAMSAP_CKK 1337 1466 1.59e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192001
SMART Domains Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570

DomainStartEndE-ValueType
Pfam:CH 178 324 1.1e-37 PFAM
Pfam:CAMSAP_CH 222 305 2.7e-36 PFAM
low complexity region 362 371 N/A INTRINSIC
low complexity region 380 393 N/A INTRINSIC
low complexity region 466 474 N/A INTRINSIC
low complexity region 654 673 N/A INTRINSIC
low complexity region 689 694 N/A INTRINSIC
coiled coil region 729 767 N/A INTRINSIC
coiled coil region 861 899 N/A INTRINSIC
low complexity region 905 912 N/A INTRINSIC
low complexity region 926 939 N/A INTRINSIC
low complexity region 1011 1026 N/A INTRINSIC
low complexity region 1076 1090 N/A INTRINSIC
coiled coil region 1138 1210 N/A INTRINSIC
low complexity region 1225 1239 N/A INTRINSIC
CAMSAP_CKK 1320 1449 1.59e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192314
SMART Domains Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570

DomainStartEndE-ValueType
Pfam:CH 178 335 1.2e-35 PFAM
Pfam:CAMSAP_CH 233 316 3.2e-34 PFAM
low complexity region 373 382 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 477 485 N/A INTRINSIC
low complexity region 665 684 N/A INTRINSIC
low complexity region 700 705 N/A INTRINSIC
coiled coil region 740 778 N/A INTRINSIC
coiled coil region 872 910 N/A INTRINSIC
low complexity region 916 923 N/A INTRINSIC
low complexity region 937 950 N/A INTRINSIC
low complexity region 1022 1037 N/A INTRINSIC
low complexity region 1087 1101 N/A INTRINSIC
coiled coil region 1149 1221 N/A INTRINSIC
low complexity region 1236 1250 N/A INTRINSIC
CAMSAP_CKK 1331 1460 1.2e-90 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194730
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 C T 4: 132,790,210 (GRCm39) R484W probably damaging Het
Arhgap24 T A 5: 103,040,017 (GRCm39) I411N probably benign Het
Armt1 A G 10: 4,403,826 (GRCm39) S304G probably benign Het
Atg9b T A 5: 24,591,108 (GRCm39) N774I possibly damaging Het
C1s1 C T 6: 124,508,117 (GRCm39) C624Y probably damaging Het
Cd109 T C 9: 78,564,798 (GRCm39) S248P probably benign Het
Cd28 A T 1: 60,804,442 (GRCm39) H140L probably benign Het
Csmd3 G A 15: 48,536,803 (GRCm39) T133I probably damaging Het
D430041D05Rik A T 2: 103,998,548 (GRCm39) probably null Het
Defb47 T C 14: 63,238,442 (GRCm39) V56A probably benign Het
Fxyd5 T C 7: 30,734,831 (GRCm39) E132G probably damaging Het
H2-M2 A G 17: 37,794,104 (GRCm39) V40A probably damaging Het
H2-Q7 T C 17: 35,659,152 (GRCm39) L201P probably benign Het
Klra9 T G 6: 130,155,957 (GRCm39) D266A probably damaging Het
Meioc A G 11: 102,565,860 (GRCm39) N492S probably benign Het
Nmt2 A G 2: 3,317,215 (GRCm39) E341G probably damaging Het
Nutm1 A C 2: 112,079,074 (GRCm39) V947G possibly damaging Het
Oga T C 19: 45,764,484 (GRCm39) probably null Het
Or7e177 T A 9: 20,211,748 (GRCm39) I84N probably damaging Het
Pm20d1 G A 1: 131,726,334 (GRCm39) G57D probably benign Het
Pnpla5 A G 15: 84,004,880 (GRCm39) I157T probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sv2b A T 7: 74,789,857 (GRCm39) I392N probably benign Het
Wfdc8 T A 2: 164,439,663 (GRCm39) I240F probably benign Het
Other mutations in Camsap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Camsap2 APN 1 136,225,528 (GRCm39) missense probably benign 0.23
IGL02727:Camsap2 APN 1 136,232,050 (GRCm39) missense probably benign
IGL02803:Camsap2 APN 1 136,208,861 (GRCm39) missense probably damaging 1.00
IGL03037:Camsap2 APN 1 136,202,595 (GRCm39) missense probably damaging 1.00
IGL03124:Camsap2 APN 1 136,202,537 (GRCm39) critical splice donor site probably null
IGL03189:Camsap2 APN 1 136,209,400 (GRCm39) missense probably damaging 1.00
IGL03297:Camsap2 APN 1 136,225,539 (GRCm39) missense probably benign
IGL03347:Camsap2 APN 1 136,208,724 (GRCm39) missense possibly damaging 0.52
ANU23:Camsap2 UTSW 1 136,225,528 (GRCm39) missense probably benign 0.23
PIT4366001:Camsap2 UTSW 1 136,208,055 (GRCm39) missense
R0001:Camsap2 UTSW 1 136,210,626 (GRCm39) unclassified probably benign
R0037:Camsap2 UTSW 1 136,209,630 (GRCm39) missense probably damaging 1.00
R0140:Camsap2 UTSW 1 136,208,120 (GRCm39) missense probably benign
R0194:Camsap2 UTSW 1 136,220,686 (GRCm39) nonsense probably null
R0206:Camsap2 UTSW 1 136,208,738 (GRCm39) missense probably damaging 1.00
R0208:Camsap2 UTSW 1 136,208,738 (GRCm39) missense probably damaging 1.00
R0517:Camsap2 UTSW 1 136,221,126 (GRCm39) missense possibly damaging 0.95
R0648:Camsap2 UTSW 1 136,232,057 (GRCm39) missense probably damaging 0.96
R0735:Camsap2 UTSW 1 136,220,626 (GRCm39) missense probably damaging 1.00
R0790:Camsap2 UTSW 1 136,201,475 (GRCm39) splice site probably benign
R0880:Camsap2 UTSW 1 136,208,708 (GRCm39) missense probably benign 0.08
R1559:Camsap2 UTSW 1 136,209,832 (GRCm39) missense probably benign 0.02
R1728:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1729:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1730:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1739:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1762:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1783:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1784:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1785:Camsap2 UTSW 1 136,209,053 (GRCm39) missense probably benign 0.00
R1823:Camsap2 UTSW 1 136,201,521 (GRCm39) missense possibly damaging 0.65
R1824:Camsap2 UTSW 1 136,201,521 (GRCm39) missense possibly damaging 0.65
R1997:Camsap2 UTSW 1 136,199,283 (GRCm39) missense probably damaging 1.00
R2010:Camsap2 UTSW 1 136,202,606 (GRCm39) missense probably damaging 1.00
R2237:Camsap2 UTSW 1 136,273,069 (GRCm39) missense probably damaging 1.00
R2923:Camsap2 UTSW 1 136,208,547 (GRCm39) missense possibly damaging 0.95
R4275:Camsap2 UTSW 1 136,198,614 (GRCm39) missense probably benign 0.01
R4371:Camsap2 UTSW 1 136,215,701 (GRCm39) missense probably damaging 1.00
R4976:Camsap2 UTSW 1 136,232,124 (GRCm39) missense probably damaging 1.00
R5227:Camsap2 UTSW 1 136,202,629 (GRCm39) intron probably benign
R5513:Camsap2 UTSW 1 136,208,601 (GRCm39) missense probably benign 0.23
R5755:Camsap2 UTSW 1 136,210,065 (GRCm39) missense probably damaging 1.00
R5834:Camsap2 UTSW 1 136,208,126 (GRCm39) missense probably benign
R5966:Camsap2 UTSW 1 136,204,330 (GRCm39) missense probably damaging 1.00
R6031:Camsap2 UTSW 1 136,208,176 (GRCm39) missense possibly damaging 0.46
R6031:Camsap2 UTSW 1 136,208,176 (GRCm39) missense possibly damaging 0.46
R6111:Camsap2 UTSW 1 136,209,036 (GRCm39) missense probably benign
R6147:Camsap2 UTSW 1 136,273,138 (GRCm39) missense probably damaging 1.00
R6284:Camsap2 UTSW 1 136,232,175 (GRCm39) missense possibly damaging 0.63
R6293:Camsap2 UTSW 1 136,215,658 (GRCm39) missense probably damaging 1.00
R6306:Camsap2 UTSW 1 136,208,937 (GRCm39) missense probably benign
R6403:Camsap2 UTSW 1 136,208,538 (GRCm39) nonsense probably null
R6943:Camsap2 UTSW 1 136,232,187 (GRCm39) missense probably damaging 1.00
R7268:Camsap2 UTSW 1 136,201,483 (GRCm39) splice site probably null
R7448:Camsap2 UTSW 1 136,198,644 (GRCm39) missense
R7472:Camsap2 UTSW 1 136,209,131 (GRCm39) missense probably damaging 0.96
R7478:Camsap2 UTSW 1 136,198,678 (GRCm39) missense
R7515:Camsap2 UTSW 1 136,273,108 (GRCm39) missense probably damaging 0.99
R7691:Camsap2 UTSW 1 136,220,742 (GRCm39) missense probably damaging 0.99
R7800:Camsap2 UTSW 1 136,209,639 (GRCm39) missense probably damaging 0.99
R8040:Camsap2 UTSW 1 136,208,985 (GRCm39) missense
R8188:Camsap2 UTSW 1 136,225,132 (GRCm39) splice site probably null
R8238:Camsap2 UTSW 1 136,221,764 (GRCm39) missense probably benign 0.03
R8258:Camsap2 UTSW 1 136,208,077 (GRCm39) missense probably benign 0.00
R8259:Camsap2 UTSW 1 136,208,077 (GRCm39) missense probably benign 0.00
R8537:Camsap2 UTSW 1 136,204,943 (GRCm39) missense probably damaging 0.99
R8782:Camsap2 UTSW 1 136,204,957 (GRCm39) missense
R9301:Camsap2 UTSW 1 136,202,640 (GRCm39) critical splice acceptor site probably null
R9600:Camsap2 UTSW 1 136,204,936 (GRCm39) missense
X0018:Camsap2 UTSW 1 136,204,313 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2018-05-04