Mutagenetix > Incidental Mutation

Incidental Mutation 'R6907:Cabyr'

538842

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

044999-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R6907 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12874141-12888203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12883969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 152 (Y152C)

Ref Sequence

ENSEMBL: ENSMUSP00000140894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119108] [ENSMUST00000121018] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000150758] [ENSMUST00000186263] [ENSMUST00000191078]

AlphaFold

Q9D424

Predicted Effect

probably benign
Transcript: ENSMUST00000074352

SMART Domains

Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
ANK	47	76	2.05e-6	SMART
ANK	80	109	1.29e-3	SMART
low complexity region	141	153	N/A	INTRINSIC
ANK	175	204	1.31e-4	SMART
PH	236	336	6.02e-8	SMART
low complexity region	345	354	N/A	INTRINSIC
coiled coil region	430	463	N/A	INTRINSIC
Pfam:Oxysterol_BP	548	940	6.7e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080415
AA Change: Y152C

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430
AA Change: Y152C

Domain	Start	End	E-Value	Type
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
AA Change: Y152C

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430
AA Change: Y152C

Domain	Start	End	E-Value	Type
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: ENSMUST00000117361

SMART Domains

Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118313

SMART Domains

Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119043

SMART Domains

Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119108
AA Change: Y152C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430
AA Change: Y152C

Domain	Start	End	E-Value	Type
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
AA Change: Y152C

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430
AA Change: Y152C

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000121774

SMART Domains

Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	8	401	4e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121808

SMART Domains

Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121888

SMART Domains

Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	35	428	5.1e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150758
AA Change: Y152C

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430
AA Change: Y152C

Domain	Start	End	E-Value	Type
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
AA Change: Y152C

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430
AA Change: Y152C

Domain	Start	End	E-Value	Type
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
AA Change: Y152C

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430
AA Change: Y152C

Domain	Start	End	E-Value	Type
Pfam:RIIa	12	46	2.3e-12	PFAM
low complexity region	77	96	N/A	INTRINSIC
low complexity region	141	172	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (38/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 112,698,793 (GRCm39)	I344V	probably benign	Het
Bmper	A	T	9: 23,310,868 (GRCm39)	Q434L	probably damaging	Het
Cactin	G	A	10: 81,159,278 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,599,505 (GRCm39)	D238G	probably damaging	Het
Card10	T	C	15: 78,671,671 (GRCm39)	T598A	possibly damaging	Het
Ctr9	C	T	7: 110,629,449 (GRCm39)	P25L	probably damaging	Het
Entpd5	T	C	12: 84,424,127 (GRCm39)	T409A	probably benign	Het
Exd1	A	G	2: 119,363,957 (GRCm39)	V137A	probably damaging	Het
Fcgbp	G	A	7: 27,784,443 (GRCm39)	G168R	probably damaging	Het
Ift88	A	G	14: 57,683,067 (GRCm39)	N248S	probably benign	Het
Kntc1	T	A	5: 123,939,888 (GRCm39)	Y1561N	probably damaging	Het
Mef2c	A	G	13: 83,802,730 (GRCm39)	D227G	probably benign	Het
Myh2	C	T	11: 67,084,567 (GRCm39)	T1702M	probably damaging	Het
Myo1e	T	A	9: 70,234,437 (GRCm39)	N263K	probably benign	Het
Nfe2l1	A	G	11: 96,710,636 (GRCm39)	L373P	probably damaging	Het
Nob1	C	T	8: 108,142,860 (GRCm39)	V274M	possibly damaging	Het
Ntng2	A	G	2: 29,118,218 (GRCm39)	C77R	probably damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or10ad1c	T	C	15: 98,085,649 (GRCm39)	N10D	probably damaging	Het
Or5p55	T	C	7: 107,567,459 (GRCm39)	L285P	probably damaging	Het
Pcdh7	T	A	5: 57,876,471 (GRCm39)	W9R	possibly damaging	Het
Pcdha1	A	G	18: 37,064,124 (GRCm39)	T263A	probably benign	Het
Per3	C	T	4: 151,128,015 (GRCm39)		probably null	Het
Pgbd5	A	G	8: 125,107,021 (GRCm39)	F265L	probably damaging	Het
Ppm1k	T	G	6: 57,487,755 (GRCm39)	E356A	probably benign	Het
Ptgfr	G	T	3: 151,540,938 (GRCm39)	T190K	possibly damaging	Het
Sec24a	A	G	11: 51,603,103 (GRCm39)	Y782H	probably damaging	Het
Setd1b	T	C	5: 123,301,295 (GRCm39)		probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,090,323 (GRCm39)	T253I	possibly damaging	Het
Tcf4	C	T	18: 69,785,484 (GRCm39)	T207M	probably damaging	Het
Thada	T	C	17: 84,700,897 (GRCm39)	N1203S	probably damaging	Het
Tln2	A	T	9: 67,304,917 (GRCm39)	S5T	probably damaging	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Ttbk2	A	G	2: 120,655,751 (GRCm39)	S38P	probably benign	Het
Vrk1	G	T	12: 106,041,291 (GRCm39)	Q395H	possibly damaging	Het
Vwa3a	G	T	7: 120,391,804 (GRCm39)		probably benign	Het
Wdsub1	C	T	2: 59,692,028 (GRCm39)	V335I	possibly damaging	Het

Other mutations in Cabyr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4933:Cabyr	UTSW	18	12,877,549 (GRCm39)	splice site	probably benign
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
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

PCR Primer
(F):5'- AAACCACCTCCAGTTCCCTG -3'
(R):5'- GCAGACAGCACGACTTCTTCAG -3'

Sequencing Primer
(F):5'- TCCAGTTCCCTGCAAACC -3'
(R):5'- AAACTCTGCACTCAGTACGTCCTG -3'

Posted On

2018-11-06