Mutagenetix > Incidental Mutation

Incidental Mutation 'R9242:Wbp2nl'

701063

Institutional Source

Beutler Lab

Gene Symbol

Wbp2nl

Ensembl Gene

ENSMUSG00000022455

Gene Name

WBP2 N-terminal like

Synonyms

4930521I23Rik, PAWP

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82298954-82314623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82308547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

Ref Sequence

ENSEMBL: ENSMUSP00000023089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023089]

AlphaFold

Q9D529

Predicted Effect

probably benign
Transcript: ENSMUST00000023089
AA Change: V144A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: V144A

Domain	Start	End	E-Value	Type
Pfam:GRAM	4	87	1e-9	PFAM
Pfam:WWbp	103	226	2e-23	PFAM
low complexity region	238	262	N/A	INTRINSIC
low complexity region	277	288	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Abcb4	C	A	5: 8,899,677	T79K	probably damaging	Het
Ackr3	G	T	1: 90,214,836	G339V	probably damaging	Het
Agpat4	G	T	17: 12,210,299	R146L	probably damaging	Het
Ampd1	C	T	3: 103,091,620	R364C	probably damaging	Het
Atrnl1	A	G	19: 57,657,228	T507A	probably benign	Het
Cand2	C	G	6: 115,791,962	R578G	probably benign	Het
Capg	C	T	6: 72,555,886	P111L	probably damaging	Het
Carm1	C	T	9: 21,583,054	T289I	probably damaging	Het
Ccr6	A	G	17: 8,256,133	I57V	probably benign	Het
Cdk5rap2	T	C	4: 70,337,346	I434V	possibly damaging	Het
Chrdl2	C	T	7: 100,006,536		probably benign	Het
Cntnap5a	A	G	1: 116,292,379	T640A	probably benign	Het
Ctsd	T	C	7: 142,383,543		probably null	Het
D17H6S53E	G	T	17: 35,127,560	R149L	possibly damaging	Het
Dync1i1	A	G	6: 5,769,706	T77A	probably benign	Het
Emc2	T	C	15: 43,495,243	M100T	probably benign	Het
Esrra	A	G	19: 6,912,495	V290A	probably benign	Het
Fbl	T	C	7: 28,177,195	I207T	probably benign	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Gcc1	T	A	6: 28,420,376	N314I	possibly damaging	Het
Gzmm	A	T	10: 79,694,520	D175V	probably damaging	Het
Heatr1	G	A	13: 12,433,925	M1840I	probably benign	Het
Helz	T	C	11: 107,632,327	L779P	probably damaging	Het
Impg1	T	A	9: 80,381,782	N331I	probably damaging	Het
Inmt	C	T	6: 55,173,285		probably null	Het
Inpp5a	C	T	7: 139,481,718	T102M	probably damaging	Het
Lamc3	A	G	2: 31,898,311	Y161C	probably benign	Het
Lpin2	A	G	17: 71,246,971	*932W	probably null	Het
Lrp3	C	T	7: 35,202,509	R649H	probably benign	Het
Madd	G	A	2: 91,143,604	T1464I	probably damaging	Het
Nceh1	C	A	3: 27,239,628	Y178*	probably null	Het
Olfr1446	T	A	19: 12,890,625		probably benign	Het
Olfr291	A	T	7: 84,856,878	K172*	probably null	Het
Ptchd4	A	T	17: 42,316,713	R22*	probably null	Het
Ptpru	C	T	4: 131,803,030	G560S	probably damaging	Het
Ralgapb	G	T	2: 158,435,466	R250L	probably benign	Het
Rcor1	T	A	12: 111,109,794	Y395*	probably null	Het
Slc35f6	G	T	5: 30,648,066		probably benign	Het
Slc40a1	A	G	1: 45,910,969	V441A	probably benign	Het
Slc6a13	T	A	6: 121,318,269	F77Y	probably damaging	Het
Slc6a15	T	A	10: 103,393,545	C148*	probably null	Het
Sox10	T	C	15: 79,156,440	Y300C	probably damaging	Het
Tomm70a	T	A	16: 57,138,020		probably benign	Het
Tor4a	A	G	2: 25,195,525	V122A	probably benign	Het
Tpi1	T	C	6: 124,814,175	Q33R	probably benign	Het
Unk	T	C	11: 116,049,358	V179A	probably benign	Het
Ush2a	G	T	1: 188,633,590	G2214C	probably damaging	Het
Vmn1r159	T	A	7: 22,843,487	Y40F	probably benign	Het
Wdpcp	A	G	11: 21,885,040	E681G	probably benign	Het

Other mutations in Wbp2nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Wbp2nl	APN	15	82314210	missense	probably benign	0.03
IGL01074:Wbp2nl	APN	15	82314290	missense	possibly damaging	0.73
IGL01295:Wbp2nl	APN	15	82306418	missense	probably damaging	1.00
IGL01621:Wbp2nl	APN	15	82308605	missense	probably benign
IGL01735:Wbp2nl	APN	15	82313816	missense	probably benign
IGL01987:Wbp2nl	APN	15	82308561	missense	probably benign	0.03
IGL02426:Wbp2nl	APN	15	82306173	missense	probably damaging	1.00
IGL02900:Wbp2nl	APN	15	82313834	missense	probably benign
IGL02971:Wbp2nl	APN	15	82305744	missense	possibly damaging	0.61
R0194:Wbp2nl	UTSW	15	82314282	missense	possibly damaging	0.93
R0242:Wbp2nl	UTSW	15	82313787	missense	probably benign
R0242:Wbp2nl	UTSW	15	82313787	missense	probably benign
R0909:Wbp2nl	UTSW	15	82314074	missense	probably benign	0.41
R1442:Wbp2nl	UTSW	15	82314206	missense	probably benign
R1753:Wbp2nl	UTSW	15	82305744	missense	probably damaging	0.97
R4085:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R4086:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R4087:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R4726:Wbp2nl	UTSW	15	82306054	missense	probably damaging	1.00
R4840:Wbp2nl	UTSW	15	82314336	missense	possibly damaging	0.96
R6338:Wbp2nl	UTSW	15	82299045	missense	possibly damaging	0.94
R6339:Wbp2nl	UTSW	15	82299045	missense	possibly damaging	0.94
R6820:Wbp2nl	UTSW	15	82313795	missense	possibly damaging	0.65
R7156:Wbp2nl	UTSW	15	82305702	missense	probably damaging	1.00
R7323:Wbp2nl	UTSW	15	82314341	makesense	probably null
R7598:Wbp2nl	UTSW	15	82308561	missense	probably benign	0.07
R7857:Wbp2nl	UTSW	15	82306072	missense	probably benign	0.24
R7903:Wbp2nl	UTSW	15	82306131	nonsense	probably null
R9379:Wbp2nl	UTSW	15	82314110	missense	possibly damaging	0.83
Z1177:Wbp2nl	UTSW	15	82308564	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCTTTAAGGAAAGGATCACG -3'
(R):5'- GTCCAGGCACTTGCTTACTC -3'

Sequencing Primer
(F):5'- AGGATCACGTGTATTTCTTAACCTGG -3'
(R):5'- AGGCACTTGCTTACTCTCTACTGG -3'

Posted On

2022-03-25