Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Vmn2r78'

88337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn2r78

Ensembl Gene

ENSMUSG00000091962

Gene Name

vomeronasal 2, receptor 78

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

86915300-86955177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86920312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 138 (T138P)

Ref Sequence

ENSEMBL: ENSMUSP00000126698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170835]

AlphaFold

K7N6U5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170835
AA Change: T138P

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126698
Gene: ENSMUSG00000091962
AA Change: T138P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	75	464	5.9e-31	PFAM
Pfam:NCD3G	507	559	8.1e-21	PFAM
Pfam:7tm_3	592	827	1e-52	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,316,724	Y350C	probably damaging	Het
Ccdc151	C	A	9: 21,995,379		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Clcn1	C	A	6: 42,291,703	A181D	probably damaging	Het
Cylc1	G	T	X: 111,122,680	K243N	unknown	Het
Dsp	A	G	13: 38,167,571	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,014,294	V665A	possibly damaging	Het
Fcho1	G	A	8: 71,712,138	P500S	probably benign	Het
Flg2	A	G	3: 93,203,020	E785G	unknown	Het
Fpr1	A	G	17: 17,877,692	S12P	possibly damaging	Het
Hydin	A	T	8: 110,312,160	M177L	probably benign	Het
Hydin	G	T	8: 110,354,953	G327V	probably damaging	Het
Itga10	G	A	3: 96,647,641	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,368,906	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,611,486	T202P	probably damaging	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mdc1	C	A	17: 35,848,020	L431I	probably benign	Het
Mmp17	A	G	5: 129,606,408	D536G	probably benign	Het
Myh8	G	A	11: 67,301,825		probably null	Het
Pop4	A	G	7: 38,264,396	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,375,268	R608C	probably damaging	Het
Prss36	T	C	7: 127,944,701	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,068,735	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,172,979	R49*	probably null	Het
S100a11	T	C	3: 93,526,106	C86R	probably damaging	Het
Skint7	T	C	4: 111,982,205	I232T	probably damaging	Het
Smchd1	G	A	17: 71,389,750	T1210I	probably benign	Het
Speg	C	T	1: 75,428,285	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,575,256	C237*	probably null	Het
Sun3	G	T	11: 9,029,394	D42E	probably benign	Het
Tgds	C	T	14: 118,128,214		probably benign	Het
Tnxb	G	A	17: 34,685,701	D1270N	probably damaging	Het
Wdfy1	T	C	1: 79,707,465	I351V	probably benign	Het

Other mutations in Vmn2r78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Vmn2r78	APN	7	86915361	missense	unknown
IGL01767:Vmn2r78	APN	7	86954435	missense	probably benign	0.28
IGL02322:Vmn2r78	APN	7	86921479	missense	probably damaging	0.96
IGL02537:Vmn2r78	APN	7	86954288	missense	probably damaging	0.99
IGL03297:Vmn2r78	APN	7	86920761	nonsense	probably null
ANU74:Vmn2r78	UTSW	7	86921065	missense	possibly damaging	0.62
R0035:Vmn2r78	UTSW	7	86920205	missense	probably benign	0.22
R0081:Vmn2r78	UTSW	7	86923027	missense	probably benign	0.35
R0401:Vmn2r78	UTSW	7	86921311	missense	probably benign	0.04
R0751:Vmn2r78	UTSW	7	86954380	missense	possibly damaging	0.77
R1341:Vmn2r78	UTSW	7	86922269	missense	possibly damaging	0.71
R1386:Vmn2r78	UTSW	7	86915407	missense	unknown
R1526:Vmn2r78	UTSW	7	86922257	splice site	probably null
R1712:Vmn2r78	UTSW	7	86954924	missense	probably damaging	1.00
R1739:Vmn2r78	UTSW	7	86920789	missense	probably benign
R1812:Vmn2r78	UTSW	7	86920787	missense	probably benign	0.38
R2011:Vmn2r78	UTSW	7	86955079	missense	possibly damaging	0.52
R2144:Vmn2r78	UTSW	7	86954482	missense	probably damaging	1.00
R2197:Vmn2r78	UTSW	7	86921327	missense	probably damaging	0.96
R2291:Vmn2r78	UTSW	7	86920154	missense	probably damaging	1.00
R2409:Vmn2r78	UTSW	7	86920745	splice site	probably benign
R3023:Vmn2r78	UTSW	7	86954966	missense	probably damaging	1.00
R4486:Vmn2r78	UTSW	7	86920751	critical splice acceptor site	probably null
R4512:Vmn2r78	UTSW	7	86920244	missense	probably benign	0.00
R4515:Vmn2r78	UTSW	7	86954258	missense	probably damaging	0.99
R4544:Vmn2r78	UTSW	7	86921191	missense	probably benign
R4546:Vmn2r78	UTSW	7	86954603	missense	probably damaging	1.00
R4872:Vmn2r78	UTSW	7	86954708	missense	possibly damaging	0.87
R4928:Vmn2r78	UTSW	7	86954627	missense	probably damaging	1.00
R5101:Vmn2r78	UTSW	7	86922355	missense	probably damaging	1.00
R5265:Vmn2r78	UTSW	7	86920124	missense	probably damaging	1.00
R5328:Vmn2r78	UTSW	7	86921030	missense	probably damaging	0.98
R5442:Vmn2r78	UTSW	7	86920122	missense	possibly damaging	0.95
R5567:Vmn2r78	UTSW	7	86921529	missense	probably benign	0.17
R5572:Vmn2r78	UTSW	7	86915512	missense	probably benign	0.01
R5636:Vmn2r78	UTSW	7	86954429	missense	probably damaging	0.99
R5901:Vmn2r78	UTSW	7	86954588	missense	probably damaging	1.00
R5977:Vmn2r78	UTSW	7	86920333	missense	possibly damaging	0.74
R5977:Vmn2r78	UTSW	7	86954907	missense	probably benign	0.00
R6276:Vmn2r78	UTSW	7	86921110	missense	probably benign	0.00
R6386:Vmn2r78	UTSW	7	86922337	nonsense	probably null
R6724:Vmn2r78	UTSW	7	86954258	missense	probably damaging	0.99
R6852:Vmn2r78	UTSW	7	86954603	missense	probably damaging	1.00
R6896:Vmn2r78	UTSW	7	86922350	missense	probably benign	0.10
R7385:Vmn2r78	UTSW	7	86922425	missense	probably benign	0.18
R7578:Vmn2r78	UTSW	7	86954344	nonsense	probably null
R7680:Vmn2r78	UTSW	7	86954941	missense	probably damaging	1.00
R7748:Vmn2r78	UTSW	7	86921135	missense	probably benign	0.00
R7852:Vmn2r78	UTSW	7	86920170	nonsense	probably null
R8031:Vmn2r78	UTSW	7	86954867	missense	probably damaging	1.00
R8070:Vmn2r78	UTSW	7	86922487	missense	probably benign	0.01
R8085:Vmn2r78	UTSW	7	86954790	missense	probably benign	0.00
R8163:Vmn2r78	UTSW	7	86954452	missense	probably damaging	1.00
R8501:Vmn2r78	UTSW	7	86920886	missense	probably damaging	0.99
R8749:Vmn2r78	UTSW	7	86954305	missense	possibly damaging	0.81
R9209:Vmn2r78	UTSW	7	86920223	missense	probably benign	0.08
RF018:Vmn2r78	UTSW	7	86954431	nonsense	probably null
Z1177:Vmn2r78	UTSW	7	86921207	missense	probably benign	0.44
Z1177:Vmn2r78	UTSW	7	86954774	missense	probably benign	0.02

Posted On

2013-11-18