Incidental Mutation 'R4933:Cabyr'
ID 380747
Institutional Source Beutler Lab
Gene Symbol Cabyr
Ensembl Gene ENSMUSG00000024430
Gene Name calcium binding tyrosine phosphorylation regulated
Synonyms FSP-2, 1700016C01Rik, 4933421A18Rik, CBP86
MMRRC Submission 042533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4933 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 12874141-12888203 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 12877549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000119108] [ENSMUST00000121018] [ENSMUST00000150758] [ENSMUST00000186263] [ENSMUST00000191078]
AlphaFold Q9D424
Predicted Effect probably benign
Transcript: ENSMUST00000080415
SMART Domains Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115857
SMART Domains Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.2e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119108
SMART Domains Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 8.5e-13 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121018
SMART Domains Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 6.7e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
low complexity region 213 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121453
Predicted Effect probably benign
Transcript: ENSMUST00000150758
SMART Domains Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186263
SMART Domains Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191078
SMART Domains Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout affects sperm flagellum morphology, resulting in reduced sperm motility. These mutant males are subfertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,276,226 (GRCm39) E643G probably damaging Het
Abca2 T C 2: 25,334,839 (GRCm39) V1937A probably benign Het
Acot10 A T 15: 20,666,416 (GRCm39) N108K possibly damaging Het
Agtpbp1 A T 13: 59,648,386 (GRCm39) M478K probably benign Het
Akirin1 G A 4: 123,630,651 (GRCm39) S191F probably damaging Het
Aoc1l3 T C 6: 48,964,426 (GRCm39) S145P probably damaging Het
Aurkb T C 11: 68,938,970 (GRCm39) probably benign Het
Ccp110 A G 7: 118,324,542 (GRCm39) E688G probably damaging Het
Champ1 T A 8: 13,929,137 (GRCm39) S432T probably benign Het
Crybg1 T A 10: 43,875,209 (GRCm39) N633I probably damaging Het
Dagla A T 19: 10,247,079 (GRCm39) probably null Het
Dkkl1 A T 7: 44,860,949 (GRCm39) L10Q probably null Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fndc7 G T 3: 108,783,986 (GRCm39) Q208K probably benign Het
Gins4 A T 8: 23,724,796 (GRCm39) C53S probably damaging Het
Gja8 T A 3: 96,826,351 (GRCm39) probably benign Het
Golph3l T A 3: 95,524,734 (GRCm39) N328K probably benign Het
Haus6 A C 4: 86,503,524 (GRCm39) probably benign Het
Hdac5 A G 11: 102,091,389 (GRCm39) probably benign Het
Ide A G 19: 37,255,155 (GRCm39) Y883H unknown Het
Igf2r A G 17: 12,910,764 (GRCm39) probably null Het
Kdm3b T C 18: 34,943,446 (GRCm39) Y723H probably damaging Het
Kif21b G A 1: 136,079,063 (GRCm39) probably null Het
Lancl1 A T 1: 67,060,193 (GRCm39) N77K probably benign Het
Lyst T A 13: 13,812,349 (GRCm39) N920K probably damaging Het
Lyst G A 13: 13,933,963 (GRCm39) V3554I probably benign Het
Map1a G A 2: 121,136,386 (GRCm39) A2163T probably damaging Het
Mapk7 G T 11: 61,384,734 (GRCm39) probably benign Het
Myo10 C A 15: 25,781,204 (GRCm39) Q154K probably damaging Het
Or2a7 C T 6: 43,151,255 (GRCm39) L112F probably benign Het
Or2h15 A G 17: 38,441,441 (GRCm39) I214T probably damaging Het
Pcdhgb2 G A 18: 37,825,267 (GRCm39) V753M probably benign Het
Pnn T A 12: 59,117,013 (GRCm39) L195Q probably damaging Het
Pot1a A G 6: 25,771,540 (GRCm39) V227A possibly damaging Het
Ppp1r21 T A 17: 88,855,049 (GRCm39) D109E probably benign Het
Prr15l G A 11: 96,825,588 (GRCm39) G73S probably damaging Het
Rnf148 A G 6: 23,654,339 (GRCm39) F219S probably benign Het
Rnpep C A 1: 135,194,764 (GRCm39) probably benign Het
Ryr1 T C 7: 28,803,723 (GRCm39) T643A probably damaging Het
Ryr2 A T 13: 11,960,831 (GRCm39) C36S probably damaging Het
Shc3 G T 13: 51,596,805 (GRCm39) T406N probably benign Het
Slit3 G T 11: 35,579,420 (GRCm39) G1199V probably damaging Het
Spata6l G T 19: 28,919,175 (GRCm39) H195N possibly damaging Het
Sptbn5 G A 2: 119,880,601 (GRCm39) noncoding transcript Het
St8sia6 T C 2: 13,670,253 (GRCm39) N236D probably damaging Het
Stpg1 A T 4: 135,233,727 (GRCm39) Q3L probably benign Het
Sult3a1 T A 10: 33,742,550 (GRCm39) I59N probably damaging Het
Vmn1r208 T G 13: 22,956,958 (GRCm39) I180L probably benign Het
Vmn2r51 A T 7: 9,832,247 (GRCm39) N446K probably damaging Het
Vmn2r63 A T 7: 42,553,402 (GRCm39) I618N probably damaging Het
Wrn T C 8: 33,812,371 (GRCm39) N182S probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp764l1 A G 7: 126,992,521 (GRCm39) Y30H probably damaging Het
Zmynd8 A G 2: 165,676,871 (GRCm39) V249A possibly damaging Het
Zswim2 A G 2: 83,755,571 (GRCm39) L110P probably damaging Het
Other mutations in Cabyr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00544:Cabyr APN 18 12,877,667 (GRCm39) missense probably damaging 0.99
R0547:Cabyr UTSW 18 12,884,073 (GRCm39) missense probably benign 0.07
R0571:Cabyr UTSW 18 12,883,909 (GRCm39) missense probably damaging 1.00
R1556:Cabyr UTSW 18 12,877,837 (GRCm39) missense probably damaging 1.00
R3084:Cabyr UTSW 18 12,884,023 (GRCm39) missense probably damaging 1.00
R3085:Cabyr UTSW 18 12,884,023 (GRCm39) missense probably damaging 1.00
R3086:Cabyr UTSW 18 12,884,023 (GRCm39) missense probably damaging 1.00
R3824:Cabyr UTSW 18 12,884,747 (GRCm39) missense probably benign 0.04
R3898:Cabyr UTSW 18 12,884,580 (GRCm39) missense probably benign 0.00
R4869:Cabyr UTSW 18 12,884,875 (GRCm39) makesense probably null
R5036:Cabyr UTSW 18 12,884,303 (GRCm39) missense probably damaging 1.00
R5482:Cabyr UTSW 18 12,884,496 (GRCm39) missense possibly damaging 0.95
R5932:Cabyr UTSW 18 12,887,407 (GRCm39) missense probably damaging 1.00
R6515:Cabyr UTSW 18 12,887,340 (GRCm39) missense possibly damaging 0.93
R6556:Cabyr UTSW 18 12,884,073 (GRCm39) missense probably benign 0.07
R6852:Cabyr UTSW 18 12,887,154 (GRCm39) missense probably benign 0.35
R6907:Cabyr UTSW 18 12,883,969 (GRCm39) missense probably benign 0.05
R7193:Cabyr UTSW 18 12,884,815 (GRCm39) missense probably damaging 1.00
R7565:Cabyr UTSW 18 12,877,656 (GRCm39) missense possibly damaging 0.50
R7777:Cabyr UTSW 18 12,877,828 (GRCm39) missense probably damaging 1.00
R7941:Cabyr UTSW 18 12,877,825 (GRCm39) missense probably damaging 1.00
R8243:Cabyr UTSW 18 12,883,759 (GRCm39) missense probably benign 0.00
R8406:Cabyr UTSW 18 12,883,804 (GRCm39) missense probably benign 0.04
R8914:Cabyr UTSW 18 12,884,077 (GRCm39) missense probably damaging 0.98
R9224:Cabyr UTSW 18 12,887,278 (GRCm39) missense possibly damaging 0.64
R9635:Cabyr UTSW 18 12,883,816 (GRCm39) missense probably damaging 1.00
R9697:Cabyr UTSW 18 12,884,407 (GRCm39) missense possibly damaging 0.91
Predicted Primers
Posted On 2016-04-15