Incidental Mutation 'R0140:Camsap2'
ID 22230
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 038425-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R0140 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 136195861-136273842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136208120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1124 (V1124D)
Ref Sequence ENSEMBL: ENSMUSP00000142299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048309] [ENSMUST00000192001] [ENSMUST00000192314]
AlphaFold Q8C1B1
Predicted Effect probably benign
Transcript: ENSMUST00000048309
AA Change: V1130D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: V1130D

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
AA Change: V1113D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: V1113D

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
AA Change: V1124D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: V1124D

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 unknown
Transcript: ENSMUST00000194808
AA Change: V456D
Meta Mutation Damage Score 0.0688 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
9330161L09Rik T C 12: 103,373,587 (GRCm39) probably benign Het
Abca2 T G 2: 25,328,097 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,379 (GRCm39) K13R probably benign Het
Arhgap15 C A 2: 44,212,779 (GRCm39) F416L probably damaging Het
Arhgef26 C G 3: 62,355,666 (GRCm39) T746R probably benign Het
Aspm C T 1: 139,408,379 (GRCm39) T2422I probably benign Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
AY358078 T A 14: 52,063,399 (GRCm39) D348E probably benign Het
Blnk A T 19: 40,928,668 (GRCm39) S285T probably damaging Het
Calr3 C T 8: 73,188,732 (GRCm39) probably benign Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Ccdc69 C A 11: 54,941,325 (GRCm39) C196F possibly damaging Het
Cdhr3 T G 12: 33,130,412 (GRCm39) N141T probably benign Het
Cdk4 T C 10: 126,900,214 (GRCm39) V37A probably damaging Het
Celsr2 C T 3: 108,305,249 (GRCm39) R2110K probably benign Het
Clcn7 A G 17: 25,372,728 (GRCm39) Y437C probably damaging Het
Col6a6 A G 9: 105,579,474 (GRCm39) F1917S probably damaging Het
Cps1 T G 1: 67,219,275 (GRCm39) S872A probably benign Het
Crebbp G T 16: 3,935,363 (GRCm39) T842N probably damaging Het
Dennd2d G A 3: 106,399,799 (GRCm39) V234I probably benign Het
Fam227b T C 2: 125,966,523 (GRCm39) M130V possibly damaging Het
Fbxw24 G T 9: 109,434,482 (GRCm39) L373I possibly damaging Het
Fubp3 T C 2: 31,498,196 (GRCm39) Y359H probably damaging Het
Gm19684 T C 17: 36,438,319 (GRCm39) probably benign Het
Hrnr C T 3: 93,238,800 (GRCm39) Q3013* probably null Het
Il12rb1 T C 8: 71,272,415 (GRCm39) probably benign Het
Lepr A T 4: 101,625,264 (GRCm39) D473V probably damaging Het
Myof A T 19: 37,940,004 (GRCm39) Y820* probably null Het
Nfil3 G A 13: 53,121,681 (GRCm39) Q408* probably null Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Npbwr1 A C 1: 5,986,840 (GRCm39) Y225D probably damaging Het
Nrip3 T C 7: 109,361,022 (GRCm39) probably benign Het
Ntrk1 A C 3: 87,685,875 (GRCm39) L749R probably damaging Het
Or10ag53 A G 2: 87,082,969 (GRCm39) I229M probably damaging Het
Or2b11 A G 11: 59,461,804 (GRCm39) L254P probably damaging Het
Or4c126 T A 2: 89,824,463 (GRCm39) V242D probably damaging Het
Or52a24 A G 7: 103,381,349 (GRCm39) D72G probably damaging Het
Or6c211 G T 10: 129,505,557 (GRCm39) T277N probably damaging Het
Paox A T 7: 139,713,971 (GRCm39) T244S probably damaging Het
Pcdhb9 T A 18: 37,536,014 (GRCm39) D669E possibly damaging Het
Pggt1b A G 18: 46,391,150 (GRCm39) probably null Het
Phkg1 T A 5: 129,893,449 (GRCm39) I334F probably benign Het
Phtf1 A T 3: 103,894,876 (GRCm39) R208W probably null Het
Pnliprp2 A T 19: 58,754,795 (GRCm39) I280F probably benign Het
Pnma8a A G 7: 16,694,147 (GRCm39) M1V probably null Het
Prcp A G 7: 92,577,819 (GRCm39) T328A probably damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Racgap1 A T 15: 99,521,532 (GRCm39) N541K probably benign Het
Rnf103 T A 6: 71,486,315 (GRCm39) F315L possibly damaging Het
Septin2 A G 1: 93,429,361 (GRCm39) R237G probably damaging Het
Setd6 T A 8: 96,442,737 (GRCm39) L58Q probably damaging Het
Sipa1l1 G A 12: 82,442,974 (GRCm39) V755I probably damaging Het
Slc16a12 G T 19: 34,650,104 (GRCm39) probably benign Het
Slk G A 19: 47,610,774 (GRCm39) D815N probably damaging Het
Stx1a T C 5: 135,074,439 (GRCm39) probably benign Het
Tbc1d15 T A 10: 115,056,124 (GRCm39) I283F probably damaging Het
Tenm4 T C 7: 96,545,259 (GRCm39) I2425T possibly damaging Het
Tle1 G A 4: 72,038,422 (GRCm39) H702Y probably damaging Het
Tmc6 A G 11: 117,657,077 (GRCm39) probably benign Het
Tmem268 G A 4: 63,496,096 (GRCm39) R179H possibly damaging Het
Tmem9 A G 1: 135,961,900 (GRCm39) K165R probably damaging Het
Trpm6 A G 19: 18,796,558 (GRCm39) probably null Het
Tufm C T 7: 126,089,003 (GRCm39) P88S probably damaging Het
Ubqln1 A G 13: 58,341,103 (GRCm39) I216T probably damaging Het
Urad T G 5: 147,259,141 (GRCm39) M1L probably benign Het
Utp6 A G 11: 79,847,551 (GRCm39) probably benign Het
Vav2 C T 2: 27,163,688 (GRCm39) probably benign Het
Vmn2r55 G T 7: 12,402,104 (GRCm39) Q395K possibly damaging Het
Wwox T G 8: 115,433,027 (GRCm39) V231G probably damaging Het
Zfp646 T A 7: 127,482,678 (GRCm39) N1618K probably benign Het
Zzef1 G A 11: 72,790,377 (GRCm39) M2110I possibly damaging 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
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
R6410:Camsap2 UTSW 1 136,273,182 (GRCm39) start gained probably benign
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 PCR Primer
(F):5'- ACAGGCATGATGGCATGACTGTG -3'
(R):5'- CAAAGGGACTTTGGGACCTTGTGAC -3'

Sequencing Primer
(F):5'- CTCTGAGTCCACACTGGAATATGG -3'
(R):5'- GGGACCTTGTGACCATAATCCTG -3'
Posted On 2013-04-16