Incidental Mutation 'R8152:Camsap1'
ID 632988
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission 067578-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R8152 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25830253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 490 (D490E)
Ref Sequence ENSEMBL: ENSMUSP00000109804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect probably damaging
Transcript: ENSMUST00000091268
AA Change: D490E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: D490E

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: D490E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: D490E

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: ENSMUST00000134054
SMART Domains Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933

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: D510E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: D510E

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 probably benign
Transcript: ENSMUST00000151593
SMART Domains Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 88 171 5.7e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183461
AA Change: D490E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: D490E

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: 98.3%
  • 20x: 92.4%
Validation Efficiency 99% (74/75)
Allele List at MGI

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

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,044,305 (GRCm39) L195P probably damaging Het
Adgrb1 T C 15: 74,413,460 (GRCm39) V548A probably benign Het
Adgrb1 T C 15: 74,416,849 (GRCm39) I752T probably damaging Het
Adgrb3 T C 1: 25,260,838 (GRCm39) probably null Het
Adh6a G T 3: 138,033,275 (GRCm39) probably null Het
Aldh18a1 A G 19: 40,553,456 (GRCm39) S431P probably benign Het
Arap3 T C 18: 38,124,410 (GRCm39) R310G possibly damaging Het
Atad5 T C 11: 79,985,996 (GRCm39) V361A possibly damaging Het
Atp8a1 C A 5: 67,919,925 (GRCm39) M380I Het
Calcrl C T 2: 84,169,593 (GRCm39) V363M possibly damaging Het
Cd72 T A 4: 43,452,601 (GRCm39) I131F possibly damaging Het
Cdh2 C T 18: 16,762,576 (GRCm39) G513D probably benign Het
Cela1 T C 15: 100,580,822 (GRCm39) T145A probably benign Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cfap99 C T 5: 34,480,735 (GRCm39) R462C probably damaging Het
Cmtm1 A G 8: 105,036,573 (GRCm39) S19P possibly damaging Het
Crebbp A T 16: 3,902,945 (GRCm39) M2098K possibly damaging Het
Csmd3 T C 15: 47,532,860 (GRCm39) probably null Het
Ctsm C G 13: 61,687,463 (GRCm39) V100L probably benign Het
Cyp2c67 C A 19: 39,628,452 (GRCm39) C164F probably benign Het
Cyp2d11 T C 15: 82,276,688 (GRCm39) I84V probably benign Het
Cyp2j11 T C 4: 96,195,529 (GRCm39) D389G probably damaging Het
Dctd A G 8: 48,564,725 (GRCm39) D9G probably benign Het
Fam221a C A 6: 49,355,490 (GRCm39) F197L probably damaging Het
Fbxl4 T G 4: 22,427,225 (GRCm39) C489G possibly damaging Het
Fmn1 C T 2: 113,196,037 (GRCm39) T579M unknown Het
Fndc3a G A 14: 72,811,820 (GRCm39) L337F probably damaging Het
Frmpd2 A G 14: 33,265,244 (GRCm39) probably null Het
Gdnf C T 15: 7,864,243 (GRCm39) S218L probably damaging Het
Gen1 A G 12: 11,293,266 (GRCm39) F444L probably damaging Het
Gk5 A T 9: 96,056,756 (GRCm39) D391V probably damaging Het
Gys2 T C 6: 142,373,136 (GRCm39) T612A probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Isx T C 8: 75,616,627 (GRCm39) F85L probably damaging Het
Kcnh5 T C 12: 74,944,633 (GRCm39) D872G possibly damaging Het
Kif26b T G 1: 178,506,794 (GRCm39) V290G possibly damaging Het
Ksr2 T C 5: 117,809,523 (GRCm39) C429R probably damaging Het
Loxhd1 A C 18: 77,476,095 (GRCm39) I1121L possibly damaging Het
Map2 T C 1: 66,453,902 (GRCm39) F931L probably benign Het
Mepce T C 5: 137,782,935 (GRCm39) I464V probably benign Het
Mpo G T 11: 87,692,475 (GRCm39) V538L probably benign Het
Mtarc2 T A 1: 184,573,509 (GRCm39) M130L possibly damaging Het
Mtrex T A 13: 113,009,517 (GRCm39) K961* probably null Het
Myom1 T C 17: 71,391,290 (GRCm39) V933A probably damaging Het
Nckap1l T G 15: 103,386,957 (GRCm39) probably null Het
Ncmap C A 4: 135,104,375 (GRCm39) M19I possibly damaging Het
Neb T A 2: 52,073,848 (GRCm39) I5920F probably benign Het
Nnt C T 13: 119,511,212 (GRCm39) V355I probably benign Het
Nr1i2 C T 16: 38,073,326 (GRCm39) G217S probably damaging Het
Nsd1 A G 13: 55,458,180 (GRCm39) R2098G possibly damaging Het
Parp4 A G 14: 56,884,703 (GRCm39) T1261A probably benign Het
Pcgf3 A T 5: 108,635,723 (GRCm39) N131I probably benign Het
Plcb2 C T 2: 118,541,302 (GRCm39) D1012N probably benign Het
Plcl2 T C 17: 50,914,689 (GRCm39) I566T probably damaging Het
Plekha1 G A 7: 130,510,102 (GRCm39) A283T probably damaging Het
Prag1 A T 8: 36,567,079 (GRCm39) M77L possibly damaging Het
Rhbdl2 A T 4: 123,718,711 (GRCm39) I222L probably benign Het
Rnh1 A C 7: 140,740,617 (GRCm39) V446G probably damaging Het
Sash1 C T 10: 8,626,805 (GRCm39) R193H possibly damaging Het
Sgf29 G T 7: 126,271,826 (GRCm39) V284L possibly damaging Het
Slc12a3 G A 8: 95,057,012 (GRCm39) G95D probably benign Het
Slc17a7 T C 7: 44,819,714 (GRCm39) V172A probably damaging Het
Spta1 T C 1: 174,045,510 (GRCm39) V1556A probably benign Het
Tex15 G A 8: 34,062,921 (GRCm39) E784K possibly damaging Het
Ttn T C 2: 76,673,132 (GRCm39) E11224G unknown Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zdbf2 C T 1: 63,345,572 (GRCm39) T1317I possibly damaging Het
Zfat C T 15: 67,973,355 (GRCm39) A1147T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zhx3 T G 2: 160,622,695 (GRCm39) I491L probably benign Het
Zranb3 T C 1: 127,882,732 (GRCm39) D1061G 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
R8133:Camsap1 UTSW 2 25,824,309 (GRCm39) missense probably damaging 0.99
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'- ACCTGATACTTGCTACCAGGC -3'
(R):5'- TGTCCTAAAGCGTTTGTATAAGGC -3'

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