Mutagenetix > Incidental Mutation

Incidental Mutation 'R7903:Wbp2nl'

610112

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 #

R7903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82298954-82314623 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 82306131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 87 (Q87*)

Ref Sequence

ENSEMBL: ENSMUSP00000023089 (fasta)

Gene Model

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

AlphaFold

Q9D529

Predicted Effect

probably null
Transcript: ENSMUST00000023089
AA Change: Q87*

SMART Domains

Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: Q87*

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: 99.1%

Validation Efficiency

100% (67/67)

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
2700062C07Rik	T	C	18: 24,475,726		probably null	Het
Acsm2	A	T	7: 119,595,992	T596S	probably benign	Het
Aggf1	T	C	13: 95,356,458	K548E	probably damaging	Het
Anapc15	T	G	7: 101,897,986	V23G	probably benign	Het
Atp10a	T	C	7: 58,658,822	L123P	probably damaging	Het
Brf2	G	A	8: 27,126,093	T88M	possibly damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Ccdc14	A	T	16: 34,704,910	H191L	probably damaging	Het
Cdc42bpg	T	A	19: 6,313,469	V453E	possibly damaging	Het
Corin	T	C	5: 72,301,500	K1110E	probably benign	Het
Cubn	T	C	2: 13,468,869	D421G	probably damaging	Het
D130043K22Rik	T	G	13: 24,876,012	V622G	probably damaging	Het
Ddb1	T	C	19: 10,608,348	V142A	probably benign	Het
Dnah3	A	G	7: 120,042,128	S1190P	probably damaging	Het
Elavl1	T	C	8: 4,301,756	K120R	probably benign	Het
Epb41l3	T	A	17: 69,274,337		probably null	Het
Fubp1	G	A	3: 152,214,861	W79*	probably null	Het
Gm1673	T	A	5: 33,983,566		probably null	Het
Gm4869	T	C	5: 140,476,012	V523A	probably damaging	Het
Gm5580	A	G	6: 116,551,251	T30A	probably benign	Het
Gsto2	T	A	19: 47,884,657	I157N	possibly damaging	Het
Gucy2d	A	G	7: 98,459,065	D735G	probably damaging	Het
H2-D1	A	T	17: 35,263,991	I166F	probably damaging	Het
Hars2	C	A	18: 36,786,192	R128S	probably damaging	Het
Igf1r	T	C	7: 68,184,752	F496S	probably damaging	Het
Inf2	T	C	12: 112,612,554	V1256A	unknown	Het
Krt34	A	T	11: 100,041,495	M1K	probably null	Het
Lamtor2	T	C	3: 88,552,510	N26D	possibly damaging	Het
Map3k10	T	C	7: 27,657,957	T799A	probably damaging	Het
Map3k8	T	C	18: 4,349,162	D52G	probably benign	Het
Mcm10	T	C	2: 4,995,802	T693A	probably benign	Het
Mgarp	G	T	3: 51,396,698	A10E		Het
Mns1	A	T	9: 72,452,811	E414D	probably benign	Het
Myo16	A	G	8: 10,376,265	S341G	probably null	Het
Nags	A	T	11: 102,146,677	D198V	possibly damaging	Het
Nedd4l	C	T	18: 65,186,367	P464S	probably damaging	Het
Nsfl1c	T	C	2: 151,496,602	Y42H	probably damaging	Het
Obscn	T	C	11: 59,079,116	M67V	probably benign	Het
Olfr1367	T	A	13: 21,347,876	I316K	probably benign	Het
Pcsk5	A	T	19: 17,572,483	L715Q	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Pfkfb4	A	T	9: 108,998,951	N64Y	probably damaging	Het
Pidd1	A	G	7: 141,439,831	F673L	probably damaging	Het
Pla2g7	A	G	17: 43,600,621		probably null	Het
Pml	T	C	9: 58,249,584	E36G	probably benign	Het
Proser1	C	A	3: 53,479,082	S795*	probably null	Het
Ptprs	T	A	17: 56,424,960	K1016*	probably null	Het
Rbfox1	T	A	16: 7,224,511	S76R	probably benign	Het
Reck	A	T	4: 43,927,166	I486F	possibly damaging	Het
Rnf103	A	T	6: 71,509,154	K256N	probably damaging	Het
Setd2	A	T	9: 110,617,837	N713I		Het
Slc38a4	C	T	15: 97,008,928	G310S	probably benign	Het
Slc7a4	C	T	16: 17,575,281	R218H	probably benign	Het
Slc7a7	T	C	14: 54,373,909	H344R	probably damaging	Het
Smarcc1	G	A	9: 110,204,266	E810K	probably benign	Het
Sord	T	A	2: 122,263,225	M275K	probably benign	Het
Spire2	C	A	8: 123,368,750	P631T	probably benign	Het
Sult6b1	T	C	17: 78,890,850	K207R	probably benign	Het
Syde2	T	A	3: 145,998,788	D498E	probably damaging	Het
Syne2	C	T	12: 76,064,184	T1024M	probably damaging	Het
Tdrd9	T	A	12: 112,051,976	D1276E	possibly damaging	Het
Tm7sf2	A	G	19: 6,071,335	F219S	probably damaging	Het
Tmcc2	C	T	1: 132,360,461	G496D	probably benign	Het
Tmtc4	G	A	14: 122,927,648	H600Y	probably benign	Het
Vmn1r224	A	T	17: 20,420,047	L295F	probably benign	Het
Vmn1r91	T	C	7: 20,101,210	I18T	possibly damaging	Het
Vwa7	G	A	17: 35,017,787	R110H	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
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
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'- ATTAGGCCATAGTGCCCAAG -3'
(R):5'- AGTAGCAGAACCTTCCCAGC -3'

Sequencing Primer
(F):5'- ATAGTGCCCAAGTGACCTTG -3'
(R):5'- TGTTTACCCGAGAAGCACACTCTC -3'

Posted On

2019-12-20