Mutagenetix > Incidental Mutation

Incidental Mutation 'R2270:Zpbp'

242405

Institutional Source

Beutler Lab

Gene Symbol

Zpbp

Ensembl Gene

ENSMUSG00000020193

Gene Name

zona pellucida binding protein

Synonyms

Sp38, 4930486K01Rik

MMRRC Submission

040270-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11229626-11412408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11368272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 133 (M133K)

Ref Sequence

ENSEMBL: ENSMUSP00000020413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020413]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020413
AA Change: M133K

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

SMART Domains

Protein: ENSMUSP00000020413
Gene: ENSMUSG00000020193
AA Change: M133K

Domain	Start	End	E-Value	Type
low complexity region	63	101	N/A	INTRINSIC
Pfam:Sp38	144	408	4.3e-128	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Male mice homozygous for a null mutation display infertility and asthenoglobozoospermia. Heterozygous males display an increase in the percentage of abnormal sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,065,863 (GRCm39)	R54W	possibly damaging	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atp11b	A	G	3: 35,864,283 (GRCm39)		probably null	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Chat	T	C	14: 32,176,538 (GRCm39)	R79G	probably damaging	Het
Chek1	A	G	9: 36,630,982 (GRCm39)	L144P	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Crip2	A	C	12: 113,108,486 (GRCm39)	K62N	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnm3	A	T	1: 162,305,358 (GRCm39)	L12Q	probably damaging	Het
Eftud2	T	C	11: 102,755,607 (GRCm39)	N200S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpr143	T	A	X: 151,573,566 (GRCm39)	V181E	probably damaging	Het
Gtf2f1	T	C	17: 57,310,462 (GRCm39)	I498V	probably null	Het
Ipo4	A	G	14: 55,871,557 (GRCm39)	L168P	probably damaging	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,726,470 (GRCm39)	E411G	probably benign	Het
Mybpc1	C	A	10: 88,387,269 (GRCm39)	V106F	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
N4bp3	A	T	11: 51,535,132 (GRCm39)	N352K	probably benign	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ncor2	A	G	5: 125,115,019 (GRCm39)	V515A	probably benign	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Olfm4	C	A	14: 80,249,315 (GRCm39)	T144K	probably damaging	Het
Or11g25	G	T	14: 50,723,494 (GRCm39)	C193F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Phf12	G	T	11: 77,875,001 (GRCm39)	A76S	possibly damaging	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,556,031 (GRCm39)	V610A	probably benign	Het
Prrc2a	T	C	17: 35,368,512 (GRCm39)	T2104A	possibly damaging	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,291,749 (GRCm39)	V252A	probably benign	Het
Rcn3	A	G	7: 44,738,075 (GRCm39)	S98P	probably damaging	Het
Rere	T	C	4: 150,561,837 (GRCm39)	S248P	unknown	Het
Rnaseh2a	T	C	8: 85,692,048 (GRCm39)	E75G	probably benign	Het
Slc15a1	A	T	14: 121,717,406 (GRCm39)	M292K	probably damaging	Het
Slc1a2	T	G	2: 102,566,339 (GRCm39)	L14R	probably damaging	Het
Slfn2	C	T	11: 82,960,761 (GRCm39)	R247C	probably damaging	Het
Ttn	T	C	2: 76,778,708 (GRCm39)	I1218M	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Yme1l1	T	C	2: 23,065,232 (GRCm39)	I247T	possibly damaging	Het
Zc3h13	T	C	14: 75,569,587 (GRCm39)	M1478T	probably benign	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Znhit2	A	G	19: 6,111,261 (GRCm39)	E2G	probably damaging	Het

Other mutations in Zpbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Zpbp	APN	11	11,354,052 (GRCm39)	missense	probably benign	0.42
IGL02227:Zpbp	APN	11	11,365,248 (GRCm39)	missense	probably benign	0.21
IGL02725:Zpbp	APN	11	11,412,358 (GRCm39)	unclassified	probably benign
R1673:Zpbp	UTSW	11	11,302,696 (GRCm39)	missense	probably damaging	0.99
R5023:Zpbp	UTSW	11	11,365,248 (GRCm39)	missense	probably benign	0.21
R5056:Zpbp	UTSW	11	11,409,734 (GRCm39)	missense	possibly damaging	0.95
R5203:Zpbp	UTSW	11	11,358,451 (GRCm39)	missense	probably damaging	1.00
R5902:Zpbp	UTSW	11	11,365,332 (GRCm39)	missense	probably benign	0.11
R6458:Zpbp	UTSW	11	11,358,538 (GRCm39)	missense	probably damaging	1.00
R6478:Zpbp	UTSW	11	11,412,318 (GRCm39)	unclassified	probably benign
R8475:Zpbp	UTSW	11	11,365,203 (GRCm39)	missense	possibly damaging	0.85
R9470:Zpbp	UTSW	11	11,358,541 (GRCm39)	missense	probably damaging	1.00
X0022:Zpbp	UTSW	11	11,232,649 (GRCm39)	missense	probably damaging	1.00
Z1088:Zpbp	UTSW	11	11,358,568 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTATATCAAATGCCAGGAGATTAC -3'
(R):5'- AAACTGGGCAATTTATGTGAGCTC -3'

Sequencing Primer
(F):5'- ACAAGTTTTCCTTTTGGCC -3'
(R):5'- TCATACCCTAACATGTGGGCG -3'

Posted On

2014-10-16