Incidental Mutation 'R0828:Camsap1'
ID 78359
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission 039008-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R0828 (G1)
Quality Score 221
Status Validated
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25829097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 876 (Q876K)
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: Q876K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: Q876K

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: Q876K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: Q876K

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 damaging
Transcript: ENSMUST00000134882
AA Change: Q896K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: Q896K

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 noncoding transcript
Transcript: ENSMUST00000134970
Predicted Effect probably benign
Transcript: ENSMUST00000143977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148146
Predicted Effect probably damaging
Transcript: ENSMUST00000183461
AA Change: Q876K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: Q876K

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 0.1573 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 98% (59/60)
Allele List at MGI

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

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik C T 11: 25,602,020 (GRCm39) C70Y unknown Het
Abi3bp C T 16: 56,498,193 (GRCm39) T929I probably damaging Het
Adap2 C A 11: 80,056,490 (GRCm39) probably benign Het
Adgrg5 A G 8: 95,668,413 (GRCm39) probably null Het
Afdn C A 17: 14,124,260 (GRCm39) N1803K probably damaging Het
Alox12b T C 11: 69,057,132 (GRCm39) L451P possibly damaging Het
Ankrd26 T C 6: 118,510,434 (GRCm39) probably benign Het
Bcr A T 10: 74,993,039 (GRCm39) probably benign Het
Cacna1c T C 6: 118,734,347 (GRCm39) N300D probably benign Het
Cdh10 A G 15: 18,986,837 (GRCm39) D356G possibly damaging Het
Cdipt T A 7: 126,576,092 (GRCm39) Y16N probably damaging Het
Cebpz T C 17: 79,233,411 (GRCm39) E772G probably benign Het
Cep350 A G 1: 155,828,992 (GRCm39) I304T probably benign Het
Chpt1 C A 10: 88,312,277 (GRCm39) G9V probably damaging Het
Col6a5 T A 9: 105,739,263 (GRCm39) probably null Het
Dock7 G T 4: 98,903,982 (GRCm39) P688T probably damaging Het
Ephb3 T A 16: 21,037,784 (GRCm39) probably benign Het
Fcgr2b T C 1: 170,788,599 (GRCm39) Y336C probably damaging Het
Flg2 A T 3: 93,110,639 (GRCm39) H889L unknown Het
Gucy2c C T 6: 136,686,746 (GRCm39) V806M probably damaging Het
Hmgxb3 T A 18: 61,304,426 (GRCm39) I55F probably damaging Het
Igsf9b T A 9: 27,230,901 (GRCm39) Y301* probably null Het
Il12rb2 C T 6: 67,333,691 (GRCm39) R196H probably benign Het
Itgam T C 7: 127,715,677 (GRCm39) probably null Het
Klhl25 T C 7: 75,515,943 (GRCm39) V283A probably damaging Het
Klhl5 T C 5: 65,320,135 (GRCm39) L423P probably damaging Het
Krt6a T C 15: 101,602,271 (GRCm39) N138S probably damaging Het
Lrba A T 3: 86,515,677 (GRCm39) probably null Het
Map4k5 T C 12: 69,852,100 (GRCm39) T828A probably damaging Het
Marchf8 T A 6: 116,382,639 (GRCm39) M434K probably benign Het
Mink1 C T 11: 70,500,971 (GRCm39) Q743* probably null Het
Mrgpra3 T C 7: 47,239,884 (GRCm39) N14S probably benign Het
Mroh7 T C 4: 106,557,073 (GRCm39) S808G probably damaging Het
Msi1 T C 5: 115,568,953 (GRCm39) probably null Het
Nrap A G 19: 56,333,990 (GRCm39) Y874H probably damaging Het
Nup205 T C 6: 35,171,501 (GRCm39) F455L probably benign Het
Or2t1 G T 14: 14,328,800 (GRCm38) V230L probably benign Het
Piwil2 A G 14: 70,613,466 (GRCm39) V894A probably damaging Het
Polr1c A G 17: 46,555,990 (GRCm39) S173P probably damaging Het
Pphln1-ps1 A G 16: 13,495,669 (GRCm39) Y256C probably damaging Het
Prep C T 10: 45,031,621 (GRCm39) A564V probably benign Het
Rab3gap1 T C 1: 127,865,922 (GRCm39) probably benign Het
Rcc1 G C 4: 132,063,136 (GRCm39) probably benign Het
Scn11a T A 9: 119,584,073 (GRCm39) D1514V probably benign Het
Setdb1 G A 3: 95,246,171 (GRCm39) P584S probably damaging Het
Slc12a7 A G 13: 73,936,771 (GRCm39) I144V probably benign Het
Slc45a4 T C 15: 73,458,665 (GRCm39) M295V probably benign Het
Slco1a1 T A 6: 141,867,565 (GRCm39) D456V possibly damaging Het
Sspo G T 6: 48,475,668 (GRCm39) C4928F probably damaging Het
St6galnac1 T A 11: 116,659,823 (GRCm39) K163N probably benign Het
Tcp11l1 A T 2: 104,530,181 (GRCm39) probably benign Het
Tns1 T A 1: 73,958,825 (GRCm39) I1715F probably damaging Het
Trpa1 C T 1: 14,946,108 (GRCm39) V1008M probably damaging Het
Ttc28 A G 5: 111,371,312 (GRCm39) E587G probably damaging Het
Ubr4 T C 4: 139,177,864 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp8 G A 2: 126,584,034 (GRCm39) probably benign Het
Zfc3h1 G T 10: 115,237,612 (GRCm39) A464S possibly damaging Het
Zfp106 T C 2: 120,366,084 (GRCm39) I108V probably benign 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
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
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'- GCTTCTCTCCATCATGCAGAGCAG -3'
(R):5'- ACTTCTCAGCTCAGCAGCATGTC -3'

Sequencing Primer
(F):5'- GCTTATGTAGCTGGACAAATGCC -3'
(R):5'- CTTTGCTGAAAGGAAGCTCC -3'
Posted On 2013-10-16