Incidental Mutation 'R7046:Camsap1'
ID 547294
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25835201 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 317 (N317S)
Ref Sequence ENSEMBL: ENSMUSP00000117203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000091268
AA Change: N297S

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: N297S

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 benign
Transcript: ENSMUST00000114167
AA Change: N297S

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: N297S

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
SMART Domains Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933
AA Change: N238S

DomainStartEndE-ValueType
Blast:Beach 40 100 5e-6 BLAST
Pfam:CAMSAP_CH 170 253 1.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134882
AA Change: N317S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: N317S

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: ENSMUST00000142028
SMART Domains Protein: ENSMUSP00000119296
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 101 164 7.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143977
Predicted Effect
SMART Domains Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933
AA Change: N156S

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 88 171 5.7e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183461
AA Change: N297S

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: N297S

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
Meta Mutation Damage Score 0.2147 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
Allele List at MGI

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

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Ccdc7a T C 8: 129,774,100 (GRCm39) E145G probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Fmo1 T A 1: 162,667,263 (GRCm39) D184V possibly damaging Het
Ghrl A G 6: 113,696,344 (GRCm39) L16P probably damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Kbtbd12 A G 6: 88,595,497 (GRCm39) M111T possibly damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Mfhas1 T C 8: 36,131,944 (GRCm39) S1037P probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Or2n1b A T 17: 38,459,691 (GRCm39) M71L probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Trio T C 15: 27,832,137 (GRCm39) E1245G probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G possibly 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
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
R8133:Camsap1 UTSW 2 25,824,309 (GRCm39) missense probably damaging 0.99
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'- CGGGGCTGAACAAAATCTGG -3'
(R):5'- GGACTTCAGCCTTGAACTCTC -3'

Sequencing Primer
(F):5'- GCTGAACAAAATCTGGTTTGACG -3'
(R):5'- GGACTTCAGCCTTGAACTCTCAAATG -3'
Posted On 2019-05-13