Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Wbp2nl'

161566

Institutional Source

Beutler Lab

Gene Symbol

Wbp2nl

Ensembl Gene

ENSMUSG00000022455

Gene Name

WBP2 N-terminal like

Synonyms

4930521I23Rik, PAWP

MMRRC Submission

039497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82298954-82314623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82314206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 315 (S315P)

Ref Sequence

ENSEMBL: ENSMUSP00000023089 (fasta)

Gene Model

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

AlphaFold

Q9D529

Predicted Effect

probably benign
Transcript: ENSMUST00000023089
AA Change: S315P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: S315P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,955,632		probably benign	Het
Adamts7	T	A	9: 90,188,770	I648N	probably damaging	Het
Akap13	T	A	7: 75,735,778	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,457,160	H314L	probably damaging	Het
Anxa3	T	A	5: 96,828,690		probably null	Het
Apob	T	G	12: 7,986,165	F298V	probably benign	Het
Atp8a2	A	C	14: 59,860,323		probably benign	Het
Atp8b5	A	T	4: 43,334,313	T360S	probably damaging	Het
BC051665	A	T	13: 60,784,741	N43K	probably benign	Het
Bicral	T	A	17: 46,801,724	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,448,185	D227G	probably damaging	Het
C8a	T	A	4: 104,828,078	T323S	possibly damaging	Het
Cep89	T	C	7: 35,418,211		probably benign	Het
Cercam	G	T	2: 29,880,640	V408L	probably benign	Het
CN725425	G	A	15: 91,238,955	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,605,113	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,866		probably null	Het
Dab2ip	A	T	2: 35,710,256	I287F	probably damaging	Het
Defb10	A	T	8: 21,858,928	M1L	probably benign	Het
Dscam	C	A	16: 96,608,074	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,462,660	I640N	possibly damaging	Het
Duox2	G	C	2: 122,281,751	P1318R	probably benign	Het
Dzip3	T	C	16: 48,945,622	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,691,409		probably null	Het
E2f3	A	G	13: 29,918,669	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,219,586	S9P	probably benign	Het
Etaa1	A	T	11: 17,947,201	D305E	probably benign	Het
Fads6	C	A	11: 115,297,409	R23L	probably benign	Het
Flrt2	T	C	12: 95,780,205	V439A	probably damaging	Het
Galm	A	C	17: 80,145,185	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,860,102		probably benign	Het
Irf7	T	C	7: 141,264,022	T246A	probably damaging	Het
Kif28	A	G	1: 179,705,132	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,302,647	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,360,044	H252R	probably benign	Het
Lzts1	G	T	8: 69,138,986	A170E	probably damaging	Het
Mphosph9	T	A	5: 124,265,398	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,232,353		probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Myh3	A	G	11: 67,087,277	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,351,032		probably benign	Het
Npc1	T	A	18: 12,195,049	M1068L	probably benign	Het
Nupl1	T	A	14: 60,232,543		probably benign	Het
Olfr1286	A	T	2: 111,420,093	I286N	probably damaging	Het
Olfr285	T	C	15: 98,313,187	Y121C	probably damaging	Het
Olfr906	A	T	9: 38,488,643	I205F	probably benign	Het
Olfr95	T	C	17: 37,211,704	T50A	probably benign	Het
Parp2	T	G	14: 50,819,275		probably null	Het
Ppp4r4	T	C	12: 103,598,245	V9A	probably damaging	Het
Ptprc	T	A	1: 138,072,312	D856V	probably damaging	Het
Ptpru	T	A	4: 131,808,269	T466S	probably benign	Het
Rhob	A	G	12: 8,499,325	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,776,786	S775R	probably benign	Het
Slit2	T	G	5: 48,238,383	D709E	probably damaging	Het
Smok2b	C	G	17: 13,235,503	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,818,436	D158V	probably damaging	Het
Syne2	T	C	12: 75,946,715	I2087T	probably damaging	Het
Tada1	G	A	1: 166,386,750	R106H	possibly damaging	Het
Tecta	T	A	9: 42,332,482	I2025F	probably damaging	Het
Themis	T	C	10: 28,782,135	V386A	probably damaging	Het
Ubr5	G	A	15: 38,014,924		probably benign	Het
Vcl	T	A	14: 20,983,378	I134N	probably damaging	Het
Vegfa	G	A	17: 46,025,492	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,472,361	K78*	probably null	Het
Vmn2r82	A	T	10: 79,379,367	T395S	probably benign	Het
Zfp566	T	C	7: 30,077,919	Y279C	probably damaging	Het
Zmym2	T	C	14: 56,943,327	Y899H	probably damaging	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
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
R9242:Wbp2nl	UTSW	15	82308547	missense	probably benign	0.22
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'- ATGGACCTCCACCTGTGAGATACG -3'
(R):5'- AGGGGATTTAACCCTCTGACGCTG -3'

Sequencing Primer
(F):5'- ACTATGGAGTATGGAGCCCA -3'
(R):5'- GGAGATAAGATTTGGTTCCACCC -3'

Posted On

2014-03-14