Incidental Mutation 'R7233:Camsap3'
ID 562635
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 045343-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R7233 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3637293-3659075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3650371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 223 (F223Y)
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 benign
Transcript: ENSMUST00000057028
SMART Domains Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433

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 benign
Transcript: ENSMUST00000171962
SMART Domains Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433

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: F212Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000207432
AA Change: F223Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect unknown
Transcript: ENSMUST00000207533
AA Change: F212Y
Predicted Effect probably benign
Transcript: ENSMUST00000207712
Predicted Effect probably benign
Transcript: ENSMUST00000207970
Predicted Effect probably benign
Transcript: ENSMUST00000208036
Predicted Effect probably benign
Transcript: ENSMUST00000208240
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,762,641 (GRCm39) K505R probably benign Het
Arhgap24 A G 5: 103,026,367 (GRCm39) K263E probably benign Het
Ark2n C A 18: 77,722,882 (GRCm39) V385F probably damaging Het
Armc2 A T 10: 41,799,800 (GRCm39) V686D probably damaging Het
Bhmt T A 13: 93,758,025 (GRCm39) K229* probably null Het
Birc2 A T 9: 7,827,009 (GRCm39) C326S probably damaging Het
Blzf1 A T 1: 164,123,512 (GRCm39) probably null Het
Ccdc126 C T 6: 49,316,775 (GRCm39) T85M probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2h T A 8: 105,744,088 (GRCm39) C279S probably damaging Het
Cfap44 T A 16: 44,242,771 (GRCm39) L725Q probably damaging Het
Cibar2 A G 8: 120,898,661 (GRCm39) L131P probably damaging Het
Clip1 T C 5: 123,749,922 (GRCm39) E987G probably damaging Het
Cog1 G T 11: 113,540,556 (GRCm39) R57L probably damaging Het
Ctdspl T C 9: 118,849,114 (GRCm39) probably null Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnttip2 T C 3: 122,070,039 (GRCm39) V418A probably benign Het
Dop1a G A 9: 86,403,749 (GRCm39) A186T probably benign Het
Efcab3 T C 11: 104,730,669 (GRCm39) S1966P possibly damaging Het
Engase T A 11: 118,373,827 (GRCm39) V323E probably damaging Het
Farsb A G 1: 78,447,718 (GRCm39) probably null Het
Fpr2 G T 17: 18,113,766 (GRCm39) W254L probably damaging Het
Frmd3 A C 4: 73,932,023 (GRCm39) H6P probably benign Het
Fscn1 C T 5: 142,956,029 (GRCm39) S366L possibly damaging Het
Galt T A 4: 41,758,267 (GRCm39) I344N probably benign Het
Gfra4 A T 2: 130,883,037 (GRCm39) V194E probably damaging Het
Golgb1 T C 16: 36,735,120 (GRCm39) S1497P possibly damaging Het
Igfn1 A C 1: 135,897,873 (GRCm39) S898A probably benign Het
Igkv1-135 T C 6: 67,587,332 (GRCm39) S68P probably benign Het
Lama2 A T 10: 27,107,659 (GRCm39) C784S probably damaging Het
Lars2 G T 9: 123,241,019 (GRCm39) G229* probably null Het
Lats2 A T 14: 57,960,151 (GRCm39) probably null Het
Lgr6 A C 1: 134,928,214 (GRCm39) probably null Het
Lrp1 A T 10: 127,430,930 (GRCm39) I373N probably damaging Het
Maml2 A T 9: 13,532,067 (GRCm39) H427L Het
Mansc1 A G 6: 134,598,806 (GRCm39) V37A probably damaging Het
Map4k3 A G 17: 80,905,077 (GRCm39) V738A possibly damaging Het
Mastl A G 2: 23,023,670 (GRCm39) I351T probably benign Het
Mcmdc2 T G 1: 10,002,408 (GRCm39) probably null Het
Mrgprd A G 7: 144,875,672 (GRCm39) D181G possibly damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Msra T C 14: 64,360,714 (GRCm39) Y209C probably damaging Het
Musk A G 4: 58,373,307 (GRCm39) E759G possibly damaging Het
Nab1 T C 1: 52,498,378 (GRCm39) *487W probably null Het
Or2z9 A G 8: 72,853,900 (GRCm39) T99A probably benign Het
Or5p66 T A 7: 107,885,923 (GRCm39) T137S probably benign Het
Pkdrej A G 15: 85,705,349 (GRCm39) S196P probably damaging Het
Pln A G 10: 53,220,008 (GRCm39) T17A probably damaging Het
Polrmt A T 10: 79,581,619 (GRCm39) probably null Het
Ppp1r14a T A 7: 28,988,949 (GRCm39) Y64N probably damaging Het
Ppp1r9a A T 6: 5,134,804 (GRCm39) H959L probably benign Het
Pramel42 A T 5: 94,685,524 (GRCm39) M395L probably benign Het
Prmt7 A G 8: 106,946,642 (GRCm39) T75A probably damaging Het
Prom1 T C 5: 44,194,816 (GRCm39) S319G possibly damaging Het
Prtg G A 9: 72,819,273 (GRCm39) G1089S probably benign Het
Ptprd T C 4: 75,978,020 (GRCm39) D596G probably benign Het
Rbm12 C T 2: 155,937,894 (GRCm39) G793S unknown Het
Rora A T 9: 69,104,804 (GRCm39) R43* probably null Het
Sez6 T C 11: 77,863,963 (GRCm39) Y482H probably damaging Het
Skint2 A T 4: 112,483,122 (GRCm39) N176Y probably damaging Het
Slc44a2 G T 9: 21,259,445 (GRCm39) probably null Het
Sox6 A G 7: 115,089,044 (GRCm39) V606A possibly damaging Het
Spa17 T C 9: 37,514,587 (GRCm39) probably null Het
Syne1 A C 10: 5,252,160 (GRCm39) L2498R probably damaging Het
Synpo2 T G 3: 122,911,333 (GRCm39) H104P probably benign Het
Tapbp G T 17: 34,138,943 (GRCm39) A46S probably damaging Het
Tbc1d30 C A 10: 121,107,962 (GRCm39) R480L probably benign Het
Tshz1 T C 18: 84,032,944 (GRCm39) D488G possibly damaging Het
Ulk1 A G 5: 110,956,908 (GRCm39) L70P probably damaging Het
Zcchc17 T A 4: 130,221,116 (GRCm39) D145V probably damaging Het
Zfp318 T A 17: 46,716,978 (GRCm39) L1037M probably damaging Het
Zfp324 C T 7: 12,704,524 (GRCm39) Q238* probably null Het
Zfp874a A G 13: 67,590,776 (GRCm39) Y303H possibly damaging Het
Zfp975 T C 7: 42,311,918 (GRCm39) K232E probably benign Het
Zfp982 T A 4: 147,597,718 (GRCm39) N358K probably benign Het
Zmiz1 C T 14: 25,650,092 (GRCm39) P417S possibly 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
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
R8696:Camsap3 UTSW 8 3,653,614 (GRCm39) missense probably damaging 1.00
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'- ACAGGGACCATGTGGATTGG -3'
(R):5'- AGATCCCCAGAGCCAGAATG -3'

Sequencing Primer
(F):5'- CTTGTCAAGGGAGGCTGC -3'
(R):5'- CCAGAGCCAGAATGGGAGG -3'
Posted On 2019-06-26