Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Zp3r'

573999

Institutional Source

Beutler Lab

Gene Symbol

Zp3r

Ensembl Gene

ENSMUSG00000042554

Gene Name

zona pellucida 3 receptor

Synonyms

SP56

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130576713-130629621 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130577053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 536 (V536L)

Ref Sequence

ENSEMBL: ENSMUSP00000045443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039862] [ENSMUST00000128128] [ENSMUST00000142416]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039862
AA Change: V536L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: V536L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
CCP	34	91	2.52e-7	SMART
CCP	96	153	3.17e-13	SMART
CCP	158	218	8.23e-12	SMART
CCP	223	278	1.77e-11	SMART
CCP	283	345	5.32e-6	SMART
CCP	350	411	3.67e-9	SMART
CCP	456	509	6.95e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128128
AA Change: V492L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: V492L

Domain	Start	End	E-Value	Type
CCP	55	112	2.52e-7	SMART
CCP	117	174	3.17e-13	SMART
CCP	179	234	1.77e-11	SMART
CCP	239	301	5.32e-6	SMART
CCP	306	367	3.67e-9	SMART
CCP	412	465	6.95e-10	SMART
PDB:4B0F\|G	468	513	8e-8	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000142416
AA Change: V471L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: V471L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
CCP	34	91	2.52e-7	SMART
CCP	96	153	3.17e-13	SMART
CCP	158	213	1.77e-11	SMART
CCP	218	280	5.32e-6	SMART
CCP	285	346	3.67e-9	SMART
CCP	391	444	6.95e-10	SMART
PDB:4B0F\|G	447	492	8e-8	PDB

Meta Mutation Damage Score

0.6329

Coding Region Coverage

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

Validation Efficiency

99% (74/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and sperm morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466		probably null	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Jup	G	T	11: 100,378,351	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het

Other mutations in Zp3r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Zp3r	APN	1	130619356	missense	possibly damaging	0.88
IGL01783:Zp3r	APN	1	130598866	missense	possibly damaging	0.72
IGL01820:Zp3r	APN	1	130598920	missense	probably benign	0.01
IGL01959:Zp3r	APN	1	130591451	nonsense	probably null
IGL01978:Zp3r	APN	1	130598941	missense	probably damaging	1.00
IGL02232:Zp3r	APN	1	130596667	missense	probably damaging	1.00
IGL02290:Zp3r	APN	1	130619365	missense	possibly damaging	0.89
IGL02878:Zp3r	APN	1	130582851	missense	probably benign	0.02
IGL02960:Zp3r	APN	1	130583438	missense	possibly damaging	0.67
BB006:Zp3r	UTSW	1	130591480	missense	probably benign	0.31
BB016:Zp3r	UTSW	1	130591480	missense	probably benign	0.31
PIT4403001:Zp3r	UTSW	1	130582872	missense	possibly damaging	0.93
R0433:Zp3r	UTSW	1	130577133	splice site	probably benign
R0491:Zp3r	UTSW	1	130618334	missense	probably damaging	1.00
R0781:Zp3r	UTSW	1	130577884	critical splice donor site	probably null
R1110:Zp3r	UTSW	1	130577884	critical splice donor site	probably null
R1126:Zp3r	UTSW	1	130618342	missense	probably damaging	1.00
R1295:Zp3r	UTSW	1	130591444	missense	probably damaging	1.00
R1680:Zp3r	UTSW	1	130582880	missense	probably benign	0.15
R1728:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1728:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R1729:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1729:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R1730:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1730:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R1739:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1739:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R1762:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1762:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R1783:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1783:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R1784:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1784:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R1785:Zp3r	UTSW	1	130596814	missense	probably benign	0.00
R1785:Zp3r	UTSW	1	130619414	missense	possibly damaging	0.68
R3942:Zp3r	UTSW	1	130577054	missense	possibly damaging	0.94
R4429:Zp3r	UTSW	1	130591391	missense	possibly damaging	0.95
R4571:Zp3r	UTSW	1	130578020	missense	probably damaging	1.00
R4626:Zp3r	UTSW	1	130615175	missense	probably damaging	1.00
R4647:Zp3r	UTSW	1	130577960	missense	probably damaging	1.00
R4790:Zp3r	UTSW	1	130582892	missense	probably damaging	1.00
R4815:Zp3r	UTSW	1	130598912	missense	probably damaging	1.00
R5355:Zp3r	UTSW	1	130596781	missense	probably benign	0.09
R5554:Zp3r	UTSW	1	130583471	missense	probably benign	0.42
R5629:Zp3r	UTSW	1	130582879	missense	probably damaging	0.99
R6154:Zp3r	UTSW	1	130598905	missense	probably damaging	1.00
R6173:Zp3r	UTSW	1	130591568	splice site	probably null
R6949:Zp3r	UTSW	1	130577895	missense	probably benign	0.00
R7346:Zp3r	UTSW	1	130583480	missense	probably benign	0.02
R7929:Zp3r	UTSW	1	130591480	missense	probably benign	0.31
R7944:Zp3r	UTSW	1	130596823	missense	probably damaging	1.00
R7945:Zp3r	UTSW	1	130596823	missense	probably damaging	1.00
R8367:Zp3r	UTSW	1	130598873	missense	probably damaging	1.00
R8742:Zp3r	UTSW	1	130583493	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCCCAAAACCTTTTAACAG -3'
(R):5'- AACCTGTTAGGATGCAAAGTCTC -3'

Sequencing Primer
(F):5'- CCCAAAACCTTTTAACAGGAGTGGTG -3'
(R):5'- AGGATGCAAAGTCTCTCCTGATTC -3'

Posted On

2019-09-13