Mutagenetix > Incidental Mutations

Incidental Mutation 'R7565:Cabyr'

585413

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12741324-12755146 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12744599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 28 (T28I)

Ref Sequence

ENSEMBL: ENSMUSP00000111523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000119108] [ENSMUST00000121018] [ENSMUST00000150758] [ENSMUST00000186263] [ENSMUST00000191078]

AlphaFold

Q9D424

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080415
AA Change: T28I

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430
AA Change: T28I

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

possibly damaging
Transcript: ENSMUST00000115857
AA Change: T28I

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430
AA Change: T28I

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: ENSMUST00000119108
AA Change: T28I

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430
AA Change: T28I

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: T28I

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430
AA Change: T28I

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

possibly damaging
Transcript: ENSMUST00000150758
AA Change: T28I

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430
AA Change: T28I

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

possibly damaging
Transcript: ENSMUST00000186263
AA Change: T28I

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430
AA Change: T28I

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

possibly damaging
Transcript: ENSMUST00000191078
AA Change: T28I

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430
AA Change: T28I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,270	N276K	probably benign	Het
9830107B12Rik	T	A	17: 48,145,579	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,946,584	I421N	probably benign	Het
Ahnak	A	G	19: 9,016,156	I4935V	probably benign	Het
Atg12	A	C	18: 46,734,484	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,888,144		probably benign	Het
Bcl3	C	T	7: 19,812,494	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,748,345	M101L	probably benign	Het
Bmp6	C	T	13: 38,346,257	Q109*	probably null	Het
Catsper3	T	C	13: 55,784,725	S22P	probably benign	Het
Catsperg2	A	T	7: 29,712,981	C395S	probably null	Het
Cd101	T	C	3: 101,018,792	T208A	probably benign	Het
Chaf1a	A	G	17: 56,064,148	S678G	probably benign	Het
Chrna2	A	C	14: 66,151,035	I500L	probably benign	Het
Cln6	C	T	9: 62,850,757	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,671,524	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah10	A	G	5: 124,799,031	N2645D	probably damaging	Het
Dph5	T	A	3: 115,892,797	V74D	probably benign	Het
Dthd1	A	T	5: 62,843,092	I586L	probably damaging	Het
Elane	G	A	10: 79,887,045	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,433,362	T453A	probably damaging	Het
Fpr3	C	A	17: 17,970,965	T166K	probably damaging	Het
Fryl	A	G	5: 73,033,720	I2724T	probably benign	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm14496	T	A	2: 181,991,257	F11Y	possibly damaging	Het
Gm14496	A	G	2: 182,000,837	N767S	probably damaging	Het
Hyal4	T	A	6: 24,765,934	M429K	possibly damaging	Het
Itgad	A	T	7: 128,183,015	T208S	probably damaging	Het
Itpr3	T	G	17: 27,110,888	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,187	C292Y	probably damaging	Het
Kdr	T	C	5: 75,948,843	K958R	probably damaging	Het
Klhl22	T	A	16: 17,789,284	W485R	probably damaging	Het
Ldhb	T	A	6: 142,492,519	I271F	possibly damaging	Het
Lmo7	A	G	14: 101,885,301	R309G	probably damaging	Het
Marco	C	A	1: 120,474,666	C517F	probably damaging	Het
Mpdz	G	A	4: 81,303,654	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,148,376	S1410G	probably benign	Het
Ncor1	T	C	11: 62,401,265	N283S	probably damaging	Het
Nlrp14	T	A	7: 107,181,887	L97*	probably null	Het
Olfm3	T	G	3: 115,122,744	S442A	probably damaging	Het
Olfr116	T	C	17: 37,624,501	I45V	probably damaging	Het
Olfr1436	T	C	19: 12,298,848	T95A	probably benign	Het
Olfr693	T	C	7: 106,678,126	Y120C	probably damaging	Het
Olfr76	T	A	19: 12,120,011	S234C	probably benign	Het
Olfr796	A	G	10: 129,608,160	V107A	possibly damaging	Het
Pank4	G	A	4: 154,980,550	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,083,264	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,268,640	S911N	probably benign	Het
Prdx6b	A	G	2: 80,292,990	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,597,036	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,251,417	D9G		Het
Rpl13a	C	T	7: 45,127,042	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rttn	C	A	18: 89,060,479	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,560,653	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,790,772	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,157,694	V277M	probably damaging	Het
Spata13	A	T	14: 60,751,849	Y988F	probably damaging	Het
Spo11	A	G	2: 172,992,071	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,587,134	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,506,593	W659*	probably null	Het
Thnsl2	T	C	6: 71,141,327	D39G	probably benign	Het
Thumpd1	A	T	7: 119,716,862	L288*	probably null	Het
Tram1l1	T	C	3: 124,321,907	Y239H	probably damaging	Het
Usp38	T	A	8: 80,981,972	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,136,660	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,565,291	I218V	probably benign	Het
Xpr1	T	C	1: 155,307,742	I461V	probably benign	Het
Ydjc	T	C	16: 17,147,005	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,160,220	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,390,366	L1140P	probably benign	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
R3085: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
R7777:Cabyr	UTSW	18	12744771	missense	probably damaging	1.00
R7941:Cabyr	UTSW	18	12744768	missense	probably damaging	1.00
R8243:Cabyr	UTSW	18	12750702	missense	probably benign	0.00
R8406:Cabyr	UTSW	18	12750747	missense	probably benign	0.04
R8914:Cabyr	UTSW	18	12751020	missense	probably damaging	0.98
R9224:Cabyr	UTSW	18	12754221	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CTGTGCATTAGTAAGCAGTGGG -3'
(R):5'- TATCTAGAGACGAATTCCCTGGAG -3'

Sequencing Primer
(F):5'- GATTTGGTTTTAGAAACCCC -3'
(R):5'- TCCCTGGAGGAATAAGCATAGG -3'

Posted On

2019-10-17