Mutagenetix > Incidental Mutation

Incidental Mutation 'R1341:Vmn2r78'

157045

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r78

Ensembl Gene

ENSMUSG00000091962

Gene Name

vomeronasal 2, receptor 78

Synonyms

MMRRC Submission

039406-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86915300-86955177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86922269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 429 (M429K)

Ref Sequence

ENSEMBL: ENSMUSP00000126698 (fasta)

Gene Model

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

AlphaFold

K7N6U5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170835
AA Change: M429K

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126698
Gene: ENSMUSG00000091962
AA Change: M429K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.9%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0e2	A	G	6: 48,540,111	Y75C	probably benign	Het
C87977	T	C	4: 144,207,559	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,433,756	L1190P	probably damaging	Het
Ccdc190	A	G	1: 169,930,017	D15G	probably damaging	Het
Cep126	G	T	9: 8,099,776	P919Q	possibly damaging	Het
Chchd6	A	G	6: 89,384,641	V260A	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cramp1l	T	C	17: 24,977,540	K867E	probably damaging	Het
Dnah6	A	T	6: 73,191,619	N440K	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm17421	A	T	12: 113,369,714		noncoding transcript	Het
Gm4788	T	A	1: 139,732,393	T665S	probably damaging	Het
Hdac3	A	G	18: 37,954,713	V36A	probably damaging	Het
Hist1h2bl	T	C	13: 21,716,110	K12E	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Itga10	G	A	3: 96,652,495	E489K	probably damaging	Het
Mgat5b	A	C	11: 116,978,397	I589L	probably benign	Het
Mindy4	A	G	6: 55,255,616	N348S	probably benign	Het
Mmp15	A	G	8: 95,372,303	D586G	probably benign	Het
Mmp9	A	G	2: 164,949,327	D139G	probably damaging	Het
Morc2a	C	A	11: 3,680,216	L471I	possibly damaging	Het
Mycbp2	T	A	14: 103,298,867		probably benign	Het
Mylip	T	A	13: 45,405,936	S105T	probably damaging	Het
Nat8f4	A	T	6: 85,901,424	L39Q	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Obscn	T	C	11: 59,029,372		probably benign	Het
Olfr1086	T	C	2: 86,677,163	M57V	possibly damaging	Het
Olfr1337	T	C	4: 118,782,382	T68A	probably benign	Het
Olfr279	G	A	15: 98,498,254	V261M	possibly damaging	Het
Olfr633	T	A	7: 103,947,382	V272D	possibly damaging	Het
Olfr825	G	T	10: 130,163,316	D3E	probably benign	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Rab11fip1	G	T	8: 27,143,360	A1106E	probably damaging	Het
Rfc1	A	G	5: 65,291,194	S363P	probably damaging	Het
Skint10	A	G	4: 112,765,031		probably benign	Het
Spen	T	C	4: 141,469,400	N3595D	possibly damaging	Het
Swsap1	A	G	9: 21,957,154	K241E	probably benign	Het
Tab1	A	G	15: 80,160,114	T448A	possibly damaging	Het
Tktl1	G	T	X: 74,197,683	G302V	probably damaging	Het
Uhrf1bp1	T	C	17: 27,877,419		probably benign	Het
Usp25	A	G	16: 77,115,443	T1017A	probably benign	Het
Wdr49	A	T	3: 75,429,333	F356I	probably damaging	Het
Wnt1	T	C	15: 98,791,883	F184L	probably damaging	Het
Yy1	T	C	12: 108,793,519	I36T	unknown	Het
Zbtb39	A	G	10: 127,743,500	I648V	possibly damaging	Het

Other mutations in Vmn2r78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Vmn2r78	APN	7	86915361	missense	unknown
IGL01473:Vmn2r78	APN	7	86920312	missense	possibly damaging	0.61
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGCACTTCACAATCGTAGTCAT -3'
(R):5'- ACCTGCTTGATATCTGTAGCCCACT -3'

Sequencing Primer
(F):5'- TGTGCGAACGTATCAGAAAATACTG -3'
(R):5'- AGCCCACTCTATCATTTCATCAGAC -3'

Posted On

2014-02-11