Mutagenetix > Incidental Mutations

Incidental Mutation 'R3085:Cabyr'

265612

Institutional Source

Beutler Lab

Gene Symbol

Cabyr

Ensembl Gene

ENSMUSG00000024430

Gene Name

calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2)

Synonyms

FSP-2, 4933421A18Rik, CBP86, 1700016C01Rik

MMRRC Submission

040574-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12741324-12755146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12750966 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 170 (V170A)

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]

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 damaging
Transcript: ENSMUST00000080415
AA Change: V170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430
AA Change: V170A

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 damaging
Transcript: ENSMUST00000115857
AA Change: V170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430
AA Change: V170A

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 damaging
Transcript: ENSMUST00000119108
AA Change: V170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430
AA Change: V170A

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 damaging
Transcript: ENSMUST00000121018
AA Change: V170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430
AA Change: V170A

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 damaging
Transcript: ENSMUST00000150758
AA Change: V170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430
AA Change: V170A

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 damaging
Transcript: ENSMUST00000186263
AA Change: V170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430
AA Change: V170A

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 damaging
Transcript: ENSMUST00000191078
AA Change: V170A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430
AA Change: V170A

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

0.1468

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 86,543,907		probably benign	Het
Adrm1	T	C	2: 180,174,301		probably null	Het
Aldh18a1	T	C	19: 40,574,369	I76V	probably benign	Het
Atp1b2	T	C	11: 69,602,879	K125E	possibly damaging	Het
Cdh8	T	C	8: 99,196,386	T293A	probably benign	Het
Cenpc1	A	T	5: 86,037,617	V345D	probably benign	Het
Col4a3	A	G	1: 82,651,258	E131G	unknown	Het
Col4a4	C	T	1: 82,529,564		probably null	Het
Creb3l1	G	T	2: 91,995,444		probably null	Het
Dhx9	T	C	1: 153,465,699	D601G	probably benign	Het
Dyx1c1	T	A	9: 72,972,406	N289K	probably benign	Het
Eml6	T	C	11: 29,809,332	E807G	probably damaging	Het
Exog	C	A	9: 119,462,452	T241K	probably benign	Het
Eya1	T	C	1: 14,274,090	D109G	probably benign	Het
Fam69a	G	T	5: 107,914,424	D28E	probably damaging	Het
Fat2	C	T	11: 55,252,171	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,184,231	G130*	probably null	Het
Fcrl5	A	G	3: 87,446,464	Y372C	probably damaging	Het
Gli3	T	C	13: 15,660,941	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,891,680	R284H	probably benign	Het
Havcr1	C	T	11: 46,756,225	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,132,058	F947S	probably damaging	Het
Irx1	G	T	13: 71,963,292	A66E	probably damaging	Het
Klf11	T	C	12: 24,655,491	S315P	probably benign	Het
Kynu	A	G	2: 43,602,300	M190V	probably benign	Het
Lrp2	T	C	2: 69,467,135	T3161A	probably benign	Het
Macrod1	G	T	19: 7,196,494	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,310,932	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,349,019	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,090,007	R806H	probably benign	Het
Nags	T	A	11: 102,145,984	V133D	probably damaging	Het
Nrg3	C	A	14: 38,370,949	D560Y	probably damaging	Het
Olfr1198	A	G	2: 88,746,144	F248S	probably damaging	Het
Olfr1280	A	G	2: 111,316,116	I212M	probably benign	Het
Olfr1313	C	A	2: 112,071,975	G203*	probably null	Het
Olfr313	T	C	11: 58,817,727	S240P	probably damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pde6d	T	C	1: 86,547,526		probably null	Het
Plekhf1	T	C	7: 38,221,577	E189G	probably benign	Het
Ppm1b	A	T	17: 85,013,860	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,456,757	Q227K	possibly damaging	Het
Rnf125	T	C	18: 20,977,730	V15A	probably benign	Het
Rnps1	C	T	17: 24,412,419		probably benign	Het
Robo1	A	G	16: 73,002,010	I953V	possibly damaging	Het
Sash1	A	T	10: 8,742,422		probably null	Het
Smarcc2	T	C	10: 128,488,159		probably benign	Het
Stx12	T	A	4: 132,857,361	E224V	probably damaging	Het
Sun1	T	C	5: 139,235,601	V357A	probably benign	Het
Synpo2l	T	C	14: 20,662,180	D350G	probably damaging	Het
Tex15	A	T	8: 33,574,885	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,442,883		probably benign	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,741,615	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,883,951	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,588,815		probably null	Het
Vmn2r85	T	C	10: 130,425,212	M419V	probably benign	Het
Wdr73	G	A	7: 80,901,242		probably benign	Het
Zc3hc1	C	T	6: 30,374,764		probably null	Het
Zfhx3	T	C	8: 108,956,032	Y3368H	unknown	Het
Zfp263	G	A	16: 3,749,716	E632K	probably damaging	Het
Zfp266	A	G	9: 20,500,944	L111P	probably damaging	Het
Zfp626	T	A	7: 27,818,162	S189R	probably benign	Het
Zfp772	T	C	7: 7,203,700	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,221,079	C797Y	probably damaging	Het

Other mutations in Cabyr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Cabyr	APN	18	12744610	missense	probably damaging	0.99
R0547:Cabyr	UTSW	18	12751016	missense	probably benign	0.07
R0571:Cabyr	UTSW	18	12750852	missense	probably damaging	1.00
R1556:Cabyr	UTSW	18	12744780	missense	probably damaging	1.00
R3084:Cabyr	UTSW	18	12750966	missense	probably damaging	1.00
R3086:Cabyr	UTSW	18	12750966	missense	probably damaging	1.00
R3824:Cabyr	UTSW	18	12751690	missense	probably benign	0.04
R3898:Cabyr	UTSW	18	12751523	missense	probably benign	0.00
R4869:Cabyr	UTSW	18	12751818	makesense	probably null
R4933:Cabyr	UTSW	18	12744492	splice site	probably benign
R5036:Cabyr	UTSW	18	12751246	missense	probably damaging	1.00
R5482:Cabyr	UTSW	18	12751439	missense	possibly damaging	0.95
R5932:Cabyr	UTSW	18	12754350	missense	probably damaging	1.00
R6515:Cabyr	UTSW	18	12754283	missense	possibly damaging	0.93
R6556:Cabyr	UTSW	18	12751016	missense	probably benign	0.07
R6852:Cabyr	UTSW	18	12754097	missense	probably benign	0.35
R6907:Cabyr	UTSW	18	12750912	missense	probably benign	0.05
R7193:Cabyr	UTSW	18	12751758	missense	probably damaging	1.00
R7565:Cabyr	UTSW	18	12744599	missense	possibly damaging	0.50
R7777:Cabyr	UTSW	18	12744771	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGCTGGACCACTATTTAGC -3'
(R):5'- TACCTGCGCAGATGTTTTGC -3'

Sequencing Primer
(F):5'- TTTAGCAACAAAACCACTCAGTTTC -3'
(R):5'- GCGCAGATGTTTTGCTCACAAC -3'

Posted On

2015-02-05