Incidental Mutation 'R8133:Camsap1'
ID 632100
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission 067561-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R8133 (G1)
Quality Score 180.009
Status Validated
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25824309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1417 (N1417S)
Ref Sequence ENSEMBL: ENSMUSP00000109804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000091268
AA Change: N1417S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: N1417S

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 228 311 3.3e-35 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
Pfam:CAMSAP_CC1 859 917 3.8e-29 PFAM
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114167
AA Change: N1417S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: N1417S

DomainStartEndE-ValueType
Pfam:CH 185 330 5.4e-34 PFAM
Pfam:CAMSAP_CH 228 311 2.3e-34 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
coiled coil region 869 905 N/A INTRINSIC
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134882
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Pfam:CH 185 350 1.3e-33 PFAM
Pfam:CAMSAP_CH 248 331 2.6e-34 PFAM
low complexity region 752 767 N/A INTRINSIC
low complexity region 812 827 N/A INTRINSIC
low complexity region 846 857 N/A INTRINSIC
coiled coil region 889 925 N/A INTRINSIC
coiled coil region 1030 1057 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143977
Predicted Effect possibly damaging
Transcript: ENSMUST00000183461
AA Change: N1417S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: N1417S

DomainStartEndE-ValueType
Pfam:CH 185 330 5.4e-34 PFAM
Pfam:CAMSAP_CH 228 311 2.3e-34 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
coiled coil region 869 905 N/A INTRINSIC
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.3%
Validation Efficiency 98% (48/49)
Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,018,289 (GRCm39) S1110R possibly damaging Het
Adam15 C T 3: 89,254,513 (GRCm39) R123Q probably benign Het
AI987944 A G 7: 41,024,489 (GRCm39) probably null Het
Ankrd31 T C 13: 97,003,003 (GRCm39) probably null Het
Arfgef3 C A 10: 18,486,951 (GRCm39) probably null Het
Atp6v0c C T 17: 24,383,553 (GRCm39) S98N possibly damaging Het
Cct7 T C 6: 85,438,045 (GRCm39) S96P probably damaging Het
Cd200l1 T C 16: 45,264,304 (GRCm39) T85A probably benign Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cib4 T C 5: 30,691,562 (GRCm39) D53G probably benign Het
Cntn6 T A 6: 104,705,298 (GRCm39) S244T probably benign Het
Cubn G T 2: 13,393,659 (GRCm39) D1447E probably damaging Het
Ebf3 T C 7: 136,914,872 (GRCm39) E102G probably damaging Het
Elmo1 T A 13: 20,557,256 (GRCm39) V399E probably damaging Het
Etl4 A G 2: 20,811,082 (GRCm39) E1423G possibly damaging Het
Glis3 A G 19: 28,327,406 (GRCm39) S669P probably benign Het
Hipk1 T C 3: 103,660,710 (GRCm39) T742A possibly damaging Het
Igdcc4 C A 9: 65,039,023 (GRCm39) T890N possibly damaging Het
Jcad C T 18: 4,649,384 (GRCm39) T85I probably benign Het
Kmt2d T C 15: 98,762,823 (GRCm39) K316E probably damaging Het
Lrig1 T C 6: 94,588,610 (GRCm39) D513G possibly damaging Het
Lrrn4 T C 2: 132,719,934 (GRCm39) N289D probably damaging Het
Mcf2l A G 8: 13,061,487 (GRCm39) M829V probably damaging Het
Mib2 C T 4: 155,741,458 (GRCm39) R495H probably benign Het
Nqo2 T C 13: 34,169,461 (GRCm39) Y228H probably benign Het
Nrg2 T A 18: 36,165,430 (GRCm39) E394V probably benign Het
Oas1e T C 5: 120,926,060 (GRCm39) N336S probably benign Het
Obi1 G T 14: 104,716,681 (GRCm39) S564* probably null Het
Or51i2 G T 7: 103,689,122 (GRCm39) G40W probably benign Het
Or52b4i T A 7: 102,192,065 (GRCm39) H307Q probably benign Het
Or5b95 T G 19: 12,657,844 (GRCm39) V124G probably damaging Het
Pax4 T C 6: 28,442,513 (GRCm39) D305G probably benign Het
Pcdhb16 T A 18: 37,611,185 (GRCm39) N48K probably damaging Het
Pcdhb20 G T 18: 37,639,663 (GRCm39) E730* probably null Het
Pde4a A T 9: 21,102,673 (GRCm39) D119V possibly damaging Het
Pgam1 T C 19: 41,904,149 (GRCm39) V82A probably benign Het
Phf11a C T 14: 59,521,773 (GRCm39) G133S probably damaging Het
Phlpp1 TGCGCGCGCGC TGCGCGCGC 1: 106,100,522 (GRCm39) probably null Het
Piwil1 T C 5: 128,826,914 (GRCm39) V558A probably damaging Het
Prpf40b T C 15: 99,202,319 (GRCm39) V59A unknown Het
Psd4 T A 2: 24,286,701 (GRCm39) S353T probably benign Het
Ryr2 A T 13: 11,618,584 (GRCm39) L3877H probably damaging Het
S100a2 T C 3: 90,498,616 (GRCm39) V39A possibly damaging Het
Tanc2 T A 11: 105,814,048 (GRCm39) S1831T probably damaging Het
Zfhx4 A G 3: 5,465,554 (GRCm39) K1904R probably damaging Het
Zfp141 A G 7: 42,124,481 (GRCm39) C664R probably damaging Het
Other mutations in Camsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Camsap1 APN 2 25,823,635 (GRCm39) missense possibly damaging 0.95
IGL01555:Camsap1 APN 2 25,829,405 (GRCm39) missense possibly damaging 0.81
IGL01667:Camsap1 APN 2 25,835,293 (GRCm39) splice site probably benign
IGL02167:Camsap1 APN 2 25,824,312 (GRCm39) missense probably damaging 1.00
IGL02191:Camsap1 APN 2 25,819,892 (GRCm39) missense probably damaging 0.97
IGL02285:Camsap1 APN 2 25,819,814 (GRCm39) missense probably damaging 1.00
IGL02393:Camsap1 APN 2 25,828,334 (GRCm39) missense probably benign 0.10
3-1:Camsap1 UTSW 2 25,835,190 (GRCm39) missense probably damaging 1.00
R0631:Camsap1 UTSW 2 25,823,659 (GRCm39) missense probably damaging 0.98
R0828:Camsap1 UTSW 2 25,829,097 (GRCm39) missense probably damaging 1.00
R1434:Camsap1 UTSW 2 25,835,190 (GRCm39) missense probably damaging 1.00
R1687:Camsap1 UTSW 2 25,829,627 (GRCm39) missense probably damaging 1.00
R2027:Camsap1 UTSW 2 25,828,538 (GRCm39) missense possibly damaging 0.51
R2048:Camsap1 UTSW 2 25,819,755 (GRCm39) missense probably benign 0.00
R3732:Camsap1 UTSW 2 25,828,356 (GRCm39) missense probably damaging 1.00
R4437:Camsap1 UTSW 2 25,828,658 (GRCm39) missense possibly damaging 0.89
R4494:Camsap1 UTSW 2 25,842,770 (GRCm39) missense probably damaging 1.00
R4888:Camsap1 UTSW 2 25,825,562 (GRCm39) missense probably benign 0.03
R5028:Camsap1 UTSW 2 25,834,568 (GRCm39) missense probably damaging 1.00
R5058:Camsap1 UTSW 2 25,829,375 (GRCm39) missense probably benign 0.01
R5105:Camsap1 UTSW 2 25,830,941 (GRCm39) missense probably damaging 1.00
R5121:Camsap1 UTSW 2 25,825,562 (GRCm39) missense probably benign 0.03
R5153:Camsap1 UTSW 2 25,823,630 (GRCm39) missense probably damaging 1.00
R5323:Camsap1 UTSW 2 25,855,823 (GRCm39) missense probably damaging 0.98
R6043:Camsap1 UTSW 2 25,819,937 (GRCm39) missense probably benign 0.00
R6479:Camsap1 UTSW 2 25,825,874 (GRCm39) missense possibly damaging 0.88
R6502:Camsap1 UTSW 2 25,846,320 (GRCm39) missense probably damaging 1.00
R6571:Camsap1 UTSW 2 25,829,512 (GRCm39) missense possibly damaging 0.89
R7046:Camsap1 UTSW 2 25,835,201 (GRCm39) missense probably damaging 0.99
R7251:Camsap1 UTSW 2 25,828,898 (GRCm39) missense probably damaging 0.99
R8026:Camsap1 UTSW 2 25,828,214 (GRCm39) missense probably benign 0.17
R8152:Camsap1 UTSW 2 25,830,253 (GRCm39) missense probably damaging 1.00
R8158:Camsap1 UTSW 2 25,834,440 (GRCm39) nonsense probably null
R8325:Camsap1 UTSW 2 25,829,375 (GRCm39) missense probably benign 0.01
R8339:Camsap1 UTSW 2 25,872,817 (GRCm39) missense possibly damaging 0.74
R9187:Camsap1 UTSW 2 25,820,028 (GRCm39) missense probably damaging 1.00
R9379:Camsap1 UTSW 2 25,846,318 (GRCm39) missense
R9419:Camsap1 UTSW 2 25,845,304 (GRCm39) missense
R9525:Camsap1 UTSW 2 25,843,962 (GRCm39) missense probably benign
R9526:Camsap1 UTSW 2 25,843,962 (GRCm39) missense probably benign
R9776:Camsap1 UTSW 2 25,828,166 (GRCm39) missense probably benign 0.00
Z1176:Camsap1 UTSW 2 25,830,893 (GRCm39) missense probably benign 0.01
Z1176:Camsap1 UTSW 2 25,826,651 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAGCAGTTAGAGATAGCTC -3'
(R):5'- GCAGTGGTTGACAAAGGCTC -3'

Sequencing Primer
(F):5'- TCTATACCCAAGTGCCTC -3'
(R):5'- GTGGTTGACAAAGGCTCACCAAATC -3'
Posted On 2020-06-30