Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00544:Cabyr'

3389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cabyr

Ensembl Gene

ENSMUSG00000024430

Gene Name

calcium binding tyrosine phosphorylation regulated

Synonyms

FSP-2, 1700016C01Rik, 4933421A18Rik, CBP86

Accession Numbers

Essential gene?

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

Stock #

IGL00544

Quality Score

Status

Chromosome

Chromosomal Location

12874141-12888203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12877667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 32 (N32D)

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 damaging
Transcript: ENSMUST00000080415
AA Change: N32D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430
AA Change: N32D

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: N32D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430
AA Change: N32D

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 damaging
Transcript: ENSMUST00000119108
AA Change: N32D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430
AA Change: N32D

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: N32D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430
AA Change: N32D

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

noncoding transcript
Transcript: ENSMUST00000121453

Predicted Effect

probably damaging
Transcript: ENSMUST00000150758
AA Change: N32D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430
AA Change: N32D

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: N32D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430
AA Change: N32D

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: N32D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430
AA Change: N32D

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

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	C	2: 69,115,025 (GRCm39)	H640Q	possibly damaging	Het
Acaca	T	C	11: 84,169,743 (GRCm39)	Y1138H	probably damaging	Het
Agtpbp1	A	G	13: 59,597,986 (GRCm39)	S1208P	probably damaging	Het
Col28a1	T	C	6: 8,162,228 (GRCm39)		probably null	Het
Heatr3	A	G	8: 88,868,367 (GRCm39)	E39G	possibly damaging	Het
Mmp27	T	C	9: 7,573,505 (GRCm39)		probably benign	Het
Ncapd3	T	G	9: 26,974,634 (GRCm39)	I702R	possibly damaging	Het
Peak1	T	C	9: 56,167,262 (GRCm39)	E222G	probably damaging	Het
Phldb2	C	A	16: 45,645,674 (GRCm39)	R302S	probably damaging	Het
Serpina1b	T	A	12: 103,695,555 (GRCm39)	I329F	possibly damaging	Het
Tpcn1	A	G	5: 120,683,370 (GRCm39)	V452A	probably damaging	Het
Ttn	G	T	2: 76,575,711 (GRCm39)	Q25061K	probably damaging	Het
Zkscan17	T	C	11: 59,378,364 (GRCm39)	E273G	probably benign	Het

Other mutations in Cabyr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20