Incidental Mutation 'R8696:Camsap3'
ID 668705
Institutional Source Beutler Lab
Gene Symbol Camsap3
Ensembl Gene ENSMUSG00000044433
Gene Name calmodulin regulated spectrin-associated protein family, member 3
Synonyms Nezha, 2310057J16Rik
MMRRC Submission 068550-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R8696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 3637293-3659075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3653614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 428 (L428P)
Ref Sequence ENSEMBL: ENSMUSP00000146896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057028] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208036] [ENSMUST00000208240]
AlphaFold Q80VC9
Predicted Effect probably damaging
Transcript: ENSMUST00000057028
AA Change: L401P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: L401P

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
Pfam:CH 166 315 5.5e-27 PFAM
Pfam:CAMSAP_CH 214 296 1.2e-29 PFAM
low complexity region 359 373 N/A INTRINSIC
coiled coil region 595 633 N/A INTRINSIC
low complexity region 645 655 N/A INTRINSIC
coiled coil region 696 727 N/A INTRINSIC
low complexity region 749 779 N/A INTRINSIC
low complexity region 828 837 N/A INTRINSIC
low complexity region 866 881 N/A INTRINSIC
coiled coil region 900 943 N/A INTRINSIC
low complexity region 944 965 N/A INTRINSIC
low complexity region 1002 1024 N/A INTRINSIC
CAMSAP_CKK 1111 1240 1.29e-86 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171962
AA Change: L402P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: L402P

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
Pfam:CAMSAP_CH 214 296 6e-31 PFAM
low complexity region 360 374 N/A INTRINSIC
Pfam:CAMSAP_CC1 587 645 1.1e-27 PFAM
low complexity region 646 656 N/A INTRINSIC
coiled coil region 697 728 N/A INTRINSIC
low complexity region 750 780 N/A INTRINSIC
low complexity region 829 838 N/A INTRINSIC
low complexity region 867 882 N/A INTRINSIC
coiled coil region 901 944 N/A INTRINSIC
low complexity region 945 966 N/A INTRINSIC
low complexity region 1003 1025 N/A INTRINSIC
CAMSAP_CKK 1112 1241 1.29e-86 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207077
AA Change: L417P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207152
Predicted Effect probably damaging
Transcript: ENSMUST00000207432
AA Change: L428P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207533
Predicted Effect probably benign
Transcript: ENSMUST00000207712
Predicted Effect probably damaging
Transcript: ENSMUST00000207970
AA Change: L412P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000208036
Predicted Effect probably benign
Transcript: ENSMUST00000208240
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display variable penetrance of vascular, liver, nervous system, rib and eye abnormalities. Mice homozygous for an allele with loss of microtubule binding show partial lethality, decreased body size and abnormal alignment of microtubles in polarized epithelial cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,687,235 (GRCm39) N423S probably benign Het
Adgrl4 T C 3: 151,248,344 (GRCm39) L672P probably damaging Het
Akr1b10 C T 6: 34,369,067 (GRCm39) T182I possibly damaging Het
Ankrd33 A G 15: 101,014,864 (GRCm39) I84V probably benign Het
Arhgap32 A G 9: 32,159,799 (GRCm39) Y272C possibly damaging Het
Arid4a T C 12: 71,110,090 (GRCm39) S144P probably damaging Het
Bicd1 A G 6: 149,415,285 (GRCm39) D666G probably damaging Het
Blk A T 14: 63,618,149 (GRCm39) probably benign Het
Btbd2 C T 10: 80,480,515 (GRCm39) R366Q possibly damaging Het
Cacna1i T C 15: 80,266,175 (GRCm39) V1554A probably damaging Het
Ccdc30 T G 4: 119,234,505 (GRCm39) Y69S possibly damaging Het
Ccdc7a T A 8: 129,715,244 (GRCm39) E280V probably damaging Het
Cdk11b T C 4: 155,732,779 (GRCm39) V539A unknown Het
Ceacam3 A T 7: 16,893,937 (GRCm39) N483Y Het
Cenpf C T 1: 189,390,194 (GRCm39) A1213T probably benign Het
Chrna6 G T 8: 27,897,195 (GRCm39) Y227* probably null Het
Cntnap5c A T 17: 58,601,294 (GRCm39) D814V probably damaging Het
Csl A T 10: 99,594,826 (GRCm39) Y80N probably damaging Het
Ctsm A G 13: 61,685,521 (GRCm39) L297P probably damaging Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dhx8 T C 11: 101,623,958 (GRCm39) V31A unknown Het
Dis3l2 G T 1: 86,719,162 (GRCm39) G131* probably null Het
Dkk1 G A 19: 30,526,688 (GRCm39) A31V probably damaging Het
Dlx3 C T 11: 95,012,596 (GRCm39) R130* probably null Het
Dnajc24 T C 2: 105,832,315 (GRCm39) M23V probably benign Het
Dnmbp T A 19: 43,862,662 (GRCm39) N76I probably damaging Het
Ezh1 T C 11: 101,100,305 (GRCm39) N226S probably benign Het
Fabp9 C T 3: 10,259,047 (GRCm39) V120M possibly damaging Het
Fcrlb A G 1: 170,739,648 (GRCm39) C85R probably damaging Het
Gnai2 A C 9: 107,496,968 (GRCm39) L131R Het
Gprin1 A G 13: 54,885,764 (GRCm39) W837R probably damaging Het
Grm3 C T 5: 9,562,311 (GRCm39) C513Y probably damaging Het
H60c T A 10: 3,210,265 (GRCm39) I95F possibly damaging Het
Hecw1 A G 13: 14,531,743 (GRCm39) V177A possibly damaging Het
Herc6 T A 6: 57,624,134 (GRCm39) C635S probably benign Het
Itga4 A T 2: 79,112,125 (GRCm39) M347L probably benign Het
Kif20b A G 19: 34,914,752 (GRCm39) H436R probably benign Het
Klrg2 G T 6: 38,613,430 (GRCm39) P191Q possibly damaging Het
Krt5 A G 15: 101,618,742 (GRCm39) Y340H probably damaging Het
Map9 T A 3: 82,270,668 (GRCm39) H77Q possibly damaging Het
Mfsd13a A G 19: 46,356,557 (GRCm39) T221A probably benign Het
Myo10 C G 15: 25,799,572 (GRCm39) H1378Q probably damaging Het
Nkx6-1 T C 5: 101,807,513 (GRCm39) T290A possibly damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Notch1 T A 2: 26,368,004 (GRCm39) probably benign Het
Nr1d2 A T 14: 18,216,661 (GRCm38) M169K probably damaging Het
Or10ak8 C T 4: 118,774,635 (GRCm39) V10I probably benign Het
Or11g1 A G 14: 50,651,420 (GRCm39) M140V possibly damaging Het
Or13c7c A G 4: 43,836,193 (GRCm39) V99A probably benign Het
Or6c69b A T 10: 129,626,562 (GRCm39) F299I possibly damaging Het
Or8b41 A G 9: 38,054,433 (GRCm39) M1V probably null Het
Pdia6 T A 12: 17,329,662 (GRCm39) I266K probably damaging Het
Phactr4 T C 4: 132,091,105 (GRCm39) probably null Het
Polr1b T A 2: 128,967,571 (GRCm39) L988Q probably damaging Het
Por A T 5: 135,763,112 (GRCm39) M541L probably benign Het
Ppid T C 3: 79,498,689 (GRCm39) probably benign Het
Prp2 A T 6: 132,577,322 (GRCm39) Q203L unknown Het
Psme4 T G 11: 30,759,896 (GRCm39) F340V probably damaging Het
Ptges2 T C 2: 32,290,077 (GRCm39) S164P probably damaging Het
Rab18 G A 18: 6,788,635 (GRCm39) G201S probably damaging Het
Rbm19 A G 5: 120,265,132 (GRCm39) E391G probably damaging Het
Rcbtb2 T G 14: 73,404,305 (GRCm39) V259G probably damaging Het
Rpn1 C A 6: 88,080,359 (GRCm39) Q553K possibly damaging Het
Sash1 A G 10: 8,609,459 (GRCm39) S697P probably damaging Het
Sdad1 T G 5: 92,437,645 (GRCm39) H603P probably damaging Het
Serpini1 T C 3: 75,520,544 (GRCm39) L47P probably damaging Het
Sorbs2 T A 8: 46,248,686 (GRCm39) S646T possibly damaging Het
Spdye4a T A 5: 143,210,754 (GRCm39) E105D probably benign Het
Srsf12 G A 4: 33,231,181 (GRCm39) C230Y possibly damaging Het
Stard9 A T 2: 120,531,595 (GRCm39) R2617S probably benign Het
Tas2r118 G T 6: 23,969,344 (GRCm39) T239K probably damaging Het
Tlr1 A G 5: 65,084,094 (GRCm39) L161P probably benign Het
Ttc21a T G 9: 119,772,977 (GRCm39) V218G possibly damaging Het
Ttc6 T C 12: 57,784,492 (GRCm39) S1854P probably benign Het
Unc93a A G 17: 13,341,852 (GRCm39) L93P probably damaging Het
Vcan A T 13: 89,839,217 (GRCm39) I2109N probably benign Het
Vmn1r225 A T 17: 20,723,419 (GRCm39) S287C probably damaging Het
Vmn1r43 A G 6: 89,847,321 (GRCm39) F55S probably damaging Het
Zfp772 T C 7: 7,208,518 (GRCm39) T109A possibly damaging Het
Zfp87 A G 13: 74,520,599 (GRCm39) Y160H probably damaging Het
Other mutations in Camsap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Camsap3 APN 8 3,652,077 (GRCm39) missense probably damaging 1.00
IGL00797:Camsap3 APN 8 3,652,115 (GRCm39) splice site probably benign
IGL01457:Camsap3 APN 8 3,654,795 (GRCm39) missense probably damaging 0.98
IGL01833:Camsap3 APN 8 3,658,508 (GRCm39) missense probably damaging 1.00
IGL02095:Camsap3 APN 8 3,653,845 (GRCm39) missense probably damaging 1.00
IGL02880:Camsap3 APN 8 3,653,913 (GRCm39) missense probably damaging 1.00
R0005:Camsap3 UTSW 8 3,654,288 (GRCm39) missense probably damaging 1.00
R0049:Camsap3 UTSW 8 3,648,772 (GRCm39) missense probably benign 0.11
R0049:Camsap3 UTSW 8 3,648,772 (GRCm39) missense probably benign 0.11
R0347:Camsap3 UTSW 8 3,652,029 (GRCm39) missense probably damaging 1.00
R0926:Camsap3 UTSW 8 3,637,960 (GRCm39) critical splice donor site probably null
R0946:Camsap3 UTSW 8 3,654,442 (GRCm39) missense probably benign 0.00
R1169:Camsap3 UTSW 8 3,653,866 (GRCm39) missense probably damaging 1.00
R1206:Camsap3 UTSW 8 3,654,708 (GRCm39) missense probably damaging 1.00
R1207:Camsap3 UTSW 8 3,654,708 (GRCm39) missense probably damaging 1.00
R1207:Camsap3 UTSW 8 3,654,708 (GRCm39) missense probably damaging 1.00
R1454:Camsap3 UTSW 8 3,653,968 (GRCm39) missense possibly damaging 0.58
R1475:Camsap3 UTSW 8 3,654,708 (GRCm39) missense probably damaging 1.00
R1581:Camsap3 UTSW 8 3,654,708 (GRCm39) missense probably damaging 1.00
R1618:Camsap3 UTSW 8 3,648,740 (GRCm39) missense probably benign 0.25
R1820:Camsap3 UTSW 8 3,653,485 (GRCm39) missense probably damaging 1.00
R1899:Camsap3 UTSW 8 3,653,922 (GRCm39) nonsense probably null
R1914:Camsap3 UTSW 8 3,654,708 (GRCm39) missense probably damaging 1.00
R1952:Camsap3 UTSW 8 3,654,789 (GRCm39) missense probably damaging 0.99
R2338:Camsap3 UTSW 8 3,656,808 (GRCm39) missense probably damaging 1.00
R3725:Camsap3 UTSW 8 3,653,785 (GRCm39) missense probably damaging 1.00
R3726:Camsap3 UTSW 8 3,653,785 (GRCm39) missense probably damaging 1.00
R4528:Camsap3 UTSW 8 3,656,515 (GRCm39) missense possibly damaging 0.79
R4652:Camsap3 UTSW 8 3,650,689 (GRCm39) missense possibly damaging 0.87
R5025:Camsap3 UTSW 8 3,654,244 (GRCm39) missense probably damaging 1.00
R5120:Camsap3 UTSW 8 3,650,680 (GRCm39) missense probably damaging 0.97
R5381:Camsap3 UTSW 8 3,653,812 (GRCm39) missense probably damaging 1.00
R5388:Camsap3 UTSW 8 3,654,276 (GRCm39) missense probably damaging 1.00
R5829:Camsap3 UTSW 8 3,647,899 (GRCm39) missense probably damaging 1.00
R5846:Camsap3 UTSW 8 3,653,980 (GRCm39) missense probably damaging 1.00
R5935:Camsap3 UTSW 8 3,651,999 (GRCm39) missense probably damaging 1.00
R6363:Camsap3 UTSW 8 3,651,971 (GRCm39) missense probably damaging 1.00
R6469:Camsap3 UTSW 8 3,653,941 (GRCm39) missense possibly damaging 0.79
R6595:Camsap3 UTSW 8 3,658,742 (GRCm39) missense probably damaging 1.00
R6595:Camsap3 UTSW 8 3,654,186 (GRCm39) missense probably damaging 1.00
R7024:Camsap3 UTSW 8 3,658,242 (GRCm39) missense probably damaging 0.98
R7062:Camsap3 UTSW 8 3,657,834 (GRCm39) unclassified probably benign
R7109:Camsap3 UTSW 8 3,648,087 (GRCm39) missense possibly damaging 0.53
R7233:Camsap3 UTSW 8 3,650,371 (GRCm39) missense probably damaging 0.99
R7236:Camsap3 UTSW 8 3,654,116 (GRCm39) missense probably damaging 1.00
R7316:Camsap3 UTSW 8 3,654,648 (GRCm39) missense possibly damaging 0.51
R7340:Camsap3 UTSW 8 3,637,960 (GRCm39) critical splice donor site probably null
R7512:Camsap3 UTSW 8 3,648,740 (GRCm39) missense probably benign 0.25
R7779:Camsap3 UTSW 8 3,647,887 (GRCm39) missense probably damaging 1.00
R8134:Camsap3 UTSW 8 3,648,075 (GRCm39) missense probably benign 0.00
R8356:Camsap3 UTSW 8 3,650,679 (GRCm39) nonsense probably null
R8456:Camsap3 UTSW 8 3,650,679 (GRCm39) nonsense probably null
R8804:Camsap3 UTSW 8 3,652,624 (GRCm39) missense probably benign 0.14
R9022:Camsap3 UTSW 8 3,656,575 (GRCm39) missense probably benign 0.08
R9380:Camsap3 UTSW 8 3,653,999 (GRCm39) missense probably benign 0.09
R9706:Camsap3 UTSW 8 3,658,689 (GRCm39) missense possibly damaging 0.92
Z1192:Camsap3 UTSW 8 3,654,124 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGCACAGTGACCATTTACTG -3'
(R):5'- TTCAATCGTGGGTAGGTCTCC -3'

Sequencing Primer
(F):5'- AGGCTCCCTGAAGTCCTC -3'
(R):5'- CAATCGTGGGTAGGTCTCCAGATTC -3'
Posted On 2021-04-30