Incidental Mutation 'R9419:Camsap1'
ID 712205
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R9419 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25845304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000139937] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect probably benign
Transcript: ENSMUST00000091268
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933

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
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933

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: S152P

DomainStartEndE-ValueType
Blast:Beach 40 100 5e-6 BLAST
Pfam:CAMSAP_CH 170 253 1.4e-36 PFAM
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: ENSMUST00000139937
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 benign
Transcript: ENSMUST00000183461
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
Allele List at MGI

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

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,682,685 (GRCm39) T30A unknown Het
Abca12 A G 1: 71,342,649 (GRCm39) Y944H possibly damaging Het
Adgrv1 T C 13: 81,656,887 (GRCm39) N2869S probably benign Het
Ank1 C A 8: 23,574,825 (GRCm39) Q140K probably damaging Het
Aspm T A 1: 139,384,923 (GRCm39) M189K probably benign Het
Atp2b1 G T 10: 98,837,178 (GRCm39) R539L possibly damaging Het
Catsperd A T 17: 56,958,821 (GRCm39) I276L probably benign Het
Cbarp A G 10: 79,967,861 (GRCm39) V460A probably damaging Het
Ccdc168 T C 1: 44,096,935 (GRCm39) I1388V probably benign Het
Cd40 A T 2: 164,904,162 (GRCm39) probably benign Het
Cdk11b A T 4: 155,724,302 (GRCm39) T307S unknown Het
Chfr C T 5: 110,317,056 (GRCm39) T643I probably damaging Het
Cnbd1 T C 4: 19,098,156 (GRCm39) Q88R probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Ghdc G T 11: 100,661,081 (GRCm39) A28D probably damaging Het
Gm5114 T C 7: 39,057,540 (GRCm39) H693R possibly damaging Het
H2-M1 G T 17: 36,981,231 (GRCm39) A268E probably damaging Het
Hsf5 A G 11: 87,528,935 (GRCm39) N557D probably benign Het
Ighg2c A G 12: 113,251,015 (GRCm39) probably benign Het
Il17ra C A 6: 120,458,255 (GRCm39) Q469K possibly damaging Het
Ipo8 T A 6: 148,686,064 (GRCm39) N809Y probably benign Het
Klra10 T A 6: 130,256,435 (GRCm39) Q73L probably damaging Het
Lamb2 T C 9: 108,356,959 (GRCm39) V3A unknown Het
Map3k9 T C 12: 81,827,341 (GRCm39) Y103C probably damaging Het
Map4 T C 9: 109,882,029 (GRCm39) S298P possibly damaging Het
Mtus2 T A 5: 148,243,451 (GRCm39) N1254K probably damaging Het
Nap1l5 T A 6: 58,883,952 (GRCm39) M1L probably benign Het
Nfxl1 G A 5: 72,716,641 (GRCm39) probably benign Het
Nmd3 T C 3: 69,643,349 (GRCm39) I227T probably benign Het
Or8c10 T G 9: 38,279,162 (GRCm39) C97G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd3 G A 11: 121,732,356 (GRCm39) M415I possibly damaging Het
Rab28 A T 5: 41,793,182 (GRCm39) S154R possibly damaging Het
Rin1 A G 19: 5,103,735 (GRCm39) E567G probably damaging Het
Rrbp1 A C 2: 143,811,436 (GRCm39) V806G probably benign Het
Sec63 T A 10: 42,679,901 (GRCm39) L326Q probably damaging Het
Serinc2 T C 4: 130,149,315 (GRCm39) T296A probably damaging Het
Skint10 G A 4: 112,572,981 (GRCm39) L272F probably damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Stag1 A G 9: 100,811,967 (GRCm39) Q815R probably benign Het
Stat3 A G 11: 100,780,357 (GRCm39) M735T possibly damaging Het
Stat3 A G 11: 100,784,738 (GRCm39) I576T probably benign Het
Styxl2 T C 1: 165,927,755 (GRCm39) Q619R probably damaging Het
Syne1 T C 10: 5,155,071 (GRCm39) K5623E probably benign Het
Tas1r2 T C 4: 139,387,036 (GRCm39) V165A possibly damaging Het
Tcaf3 A T 6: 42,573,716 (GRCm39) D165E probably benign Het
Tex2 G A 11: 106,457,835 (GRCm39) Q532* probably null Het
Utrn T C 10: 12,564,125 (GRCm39) E1245G 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
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
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'- ACATGGCATCCCAATGTGC -3'
(R):5'- CCTTCCAGTTAAATTGCCTGG -3'

Sequencing Primer
(F):5'- AGCAGGGCTCATGCTAGAC -3'
(R):5'- CCTTCCAGTTAAATTGCCTGGTGTTG -3'
Posted On 2022-05-16