Incidental Mutation 'R5105:Camsap1'
ID 401965
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission 042693-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R5105 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25926838-25983282 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25940929 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 445 (S445P)
Ref Sequence ENSEMBL: ENSMUSP00000139028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect probably damaging
Transcript: ENSMUST00000091268
AA Change: S445P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: S445P

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: S445P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: S445P

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 possibly damaging
Transcript: ENSMUST00000134882
AA Change: S465P

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: S465P

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: S445P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: S445P

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 0.1446 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (52/54)
Allele List at MGI

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

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T G 5: 107,510,471 (GRCm38) S1124A possibly damaging Het
Ccdc92 G A 5: 124,835,794 (GRCm38) P224S probably damaging Het
Cep135 T C 5: 76,594,092 (GRCm38) V125A probably benign Het
Cep192 T A 18: 67,866,541 (GRCm38) C2159S probably benign Het
Col1a1 G T 11: 94,942,385 (GRCm38) R404L unknown Het
Col6a3 A T 1: 90,798,140 (GRCm38) M1382K possibly damaging Het
Cyp4a12b T C 4: 115,433,761 (GRCm38) S329P probably damaging Het
Dclk1 T G 3: 55,255,939 (GRCm38) S151A probably benign Het
Ddhd1 A T 14: 45,657,407 (GRCm38) V202E probably benign Het
Dlx6 AGG AG 6: 6,865,180 (GRCm38) probably null Het
Dnah10 A G 5: 124,811,482 (GRCm38) E3050G probably benign Het
Dync1h1 T A 12: 110,617,932 (GRCm38) F590I probably damaging Het
Eif4b T C 15: 102,084,196 (GRCm38) Y63H probably benign Het
Fscb T C 12: 64,473,336 (GRCm38) E452G possibly damaging Het
Gpx3 A T 11: 54,907,154 (GRCm38) T39S possibly damaging Het
Grin2b T A 6: 135,732,441 (GRCm38) Y1369F probably benign Het
Kank4 A T 4: 98,779,159 (GRCm38) N350K probably benign Het
Kdm5d A G Y: 941,752 (GRCm38) K1318E probably benign Het
Large1 A T 8: 72,852,244 (GRCm38) Y444* probably null Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,201,423 (GRCm38) probably null Het
Lrrc47 A G 4: 154,012,216 (GRCm38) Q156R probably damaging Het
Lrriq4 T C 3: 30,650,483 (GRCm38) L220P probably damaging Het
Matn2 A G 15: 34,355,668 (GRCm38) D273G possibly damaging Het
Myo18b T A 5: 112,840,778 (GRCm38) I981F probably damaging Het
Olfr1110 A G 2: 87,136,210 (GRCm38) I37T probably benign Het
Olfr135 A C 17: 38,208,317 (GRCm38) E24A possibly damaging Het
Olfr357 G A 2: 36,997,457 (GRCm38) probably null Het
Olfr524 A G 7: 140,202,549 (GRCm38) Y74H probably damaging Het
Olfr974 T C 9: 39,942,398 (GRCm38) V46A probably benign Het
Pkdrej T C 15: 85,816,384 (GRCm38) T1784A probably damaging Het
Ppp3cb A G 14: 20,509,422 (GRCm38) V422A possibly damaging Het
Rlf G A 4: 121,150,367 (GRCm38) T472I probably damaging Het
Scaf11 T C 15: 96,420,432 (GRCm38) E417G probably damaging Het
Shisa2 A T 14: 59,629,814 (GRCm38) T172S possibly damaging Het
Siglec1 T A 2: 131,080,400 (GRCm38) Q585L possibly damaging Het
Sorcs1 A T 19: 50,225,141 (GRCm38) M716K possibly damaging Het
Sparcl1 C T 5: 104,085,763 (GRCm38) M573I probably damaging Het
Stxbp5l C A 16: 37,142,372 (GRCm38) V774F probably benign Het
Tcaf3 A G 6: 42,591,325 (GRCm38) F699S probably damaging Het
Tmem87b T C 2: 128,831,589 (GRCm38) V251A probably damaging Het
Trpc6 T A 9: 8,649,470 (GRCm38) N560K probably benign Het
Trpv4 T A 5: 114,626,920 (GRCm38) I678F probably damaging Het
Ttc3 A T 16: 94,466,934 (GRCm38) H1935L possibly damaging Het
Vmn2r59 T A 7: 42,047,105 (GRCm38) Y71F probably benign Het
Wdfy3 A G 5: 101,855,549 (GRCm38) I2900T probably damaging Het
Zfp184 A G 13: 21,959,629 (GRCm38) T502A possibly damaging Het
Zmym6 A G 4: 127,123,758 (GRCm38) I1019V probably benign Het
Other mutations in Camsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Camsap1 APN 2 25,933,623 (GRCm38) missense possibly damaging 0.95
IGL01555:Camsap1 APN 2 25,939,393 (GRCm38) missense possibly damaging 0.81
IGL01667:Camsap1 APN 2 25,945,281 (GRCm38) splice site probably benign
IGL02167:Camsap1 APN 2 25,934,300 (GRCm38) missense probably damaging 1.00
IGL02191:Camsap1 APN 2 25,929,880 (GRCm38) missense probably damaging 0.97
IGL02285:Camsap1 APN 2 25,929,802 (GRCm38) missense probably damaging 1.00
IGL02393:Camsap1 APN 2 25,938,322 (GRCm38) missense probably benign 0.10
3-1:Camsap1 UTSW 2 25,945,178 (GRCm38) missense probably damaging 1.00
R0631:Camsap1 UTSW 2 25,933,647 (GRCm38) missense probably damaging 0.98
R0828:Camsap1 UTSW 2 25,939,085 (GRCm38) missense probably damaging 1.00
R1434:Camsap1 UTSW 2 25,945,178 (GRCm38) missense probably damaging 1.00
R1687:Camsap1 UTSW 2 25,939,615 (GRCm38) missense probably damaging 1.00
R2027:Camsap1 UTSW 2 25,938,526 (GRCm38) missense possibly damaging 0.51
R2048:Camsap1 UTSW 2 25,929,743 (GRCm38) missense probably benign 0.00
R3732:Camsap1 UTSW 2 25,938,344 (GRCm38) missense probably damaging 1.00
R4437:Camsap1 UTSW 2 25,938,646 (GRCm38) missense possibly damaging 0.89
R4494:Camsap1 UTSW 2 25,952,758 (GRCm38) missense probably damaging 1.00
R4888:Camsap1 UTSW 2 25,935,550 (GRCm38) missense probably benign 0.03
R5028:Camsap1 UTSW 2 25,944,556 (GRCm38) missense probably damaging 1.00
R5058:Camsap1 UTSW 2 25,939,363 (GRCm38) missense probably benign 0.01
R5121:Camsap1 UTSW 2 25,935,550 (GRCm38) missense probably benign 0.03
R5153:Camsap1 UTSW 2 25,933,618 (GRCm38) missense probably damaging 1.00
R5323:Camsap1 UTSW 2 25,965,811 (GRCm38) missense probably damaging 0.98
R6043:Camsap1 UTSW 2 25,929,925 (GRCm38) missense probably benign 0.00
R6479:Camsap1 UTSW 2 25,935,862 (GRCm38) missense possibly damaging 0.88
R6502:Camsap1 UTSW 2 25,956,308 (GRCm38) missense probably damaging 1.00
R6571:Camsap1 UTSW 2 25,939,500 (GRCm38) missense possibly damaging 0.89
R7046:Camsap1 UTSW 2 25,945,189 (GRCm38) missense probably damaging 0.99
R7251:Camsap1 UTSW 2 25,938,886 (GRCm38) missense probably damaging 0.99
R8026:Camsap1 UTSW 2 25,938,202 (GRCm38) missense probably benign 0.17
R8133:Camsap1 UTSW 2 25,934,297 (GRCm38) missense probably damaging 0.99
R8152:Camsap1 UTSW 2 25,940,241 (GRCm38) missense probably damaging 1.00
R8158:Camsap1 UTSW 2 25,944,428 (GRCm38) nonsense probably null
R8325:Camsap1 UTSW 2 25,939,363 (GRCm38) missense probably benign 0.01
R8339:Camsap1 UTSW 2 25,982,805 (GRCm38) missense possibly damaging 0.74
R9187:Camsap1 UTSW 2 25,930,016 (GRCm38) missense probably damaging 1.00
R9379:Camsap1 UTSW 2 25,956,306 (GRCm38) missense
R9419:Camsap1 UTSW 2 25,955,292 (GRCm38) missense
R9525:Camsap1 UTSW 2 25,953,950 (GRCm38) missense probably benign
R9526:Camsap1 UTSW 2 25,953,950 (GRCm38) missense probably benign
R9776:Camsap1 UTSW 2 25,938,154 (GRCm38) missense probably benign 0.00
Z1176:Camsap1 UTSW 2 25,940,881 (GRCm38) missense probably benign 0.01
Z1176:Camsap1 UTSW 2 25,936,639 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATCATACAGTCGCTGTGCC -3'
(R):5'- ACGTATTGCAGCTACTGGAAG -3'

Sequencing Primer
(F):5'- CTGTGGTATCACTAGCTGCCAG -3'
(R):5'- CGTATTGCAGCTACTGGAAGTTACAG -3'
Posted On 2016-07-22