Mutagenetix > Incidental Mutation

Incidental Mutation 'R4512:Vmn2r78'

331268

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r78

Ensembl Gene

ENSMUSG00000091962

Gene Name

vomeronasal 2, receptor 78

Synonyms

MMRRC Submission

041587-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86915300-86955177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86920244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 115 (S115F)

Ref Sequence

ENSEMBL: ENSMUSP00000126698 (fasta)

Gene Model

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

AlphaFold

K7N6U5

Predicted Effect

probably benign
Transcript: ENSMUST00000170835
AA Change: S115F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126698
Gene: ENSMUSG00000091962
AA Change: S115F

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,156,667	T497S	probably damaging	Het
Abcb4	A	T	5: 8,928,573	D573V	probably damaging	Het
Adgrg5	T	C	8: 94,934,024	V93A	possibly damaging	Het
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Alpk1	T	C	3: 127,684,471		probably benign	Het
Atp6v1h	T	C	1: 5,098,135		probably null	Het
Aup1	C	T	6: 83,056,387	R248*	probably null	Het
BC016579	C	A	16: 45,633,000	A151S	possibly damaging	Het
Cenpn	A	G	8: 116,933,396	Y68C	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Chsy3	A	G	18: 59,410,187	D799G	probably damaging	Het
Dnah6	G	A	6: 73,178,416	R739W	probably damaging	Het
Dync2h1	A	T	9: 7,085,009	C553*	probably null	Het
Fhl4	A	G	10: 85,098,714	S68P	possibly damaging	Het
Gcc1	T	C	6: 28,419,209	E375G	probably benign	Het
Gm10110	A	G	14: 89,897,715		noncoding transcript	Het
Hspbap1	C	T	16: 35,787,241	S39F	probably damaging	Het
Lmln	G	A	16: 33,088,137	R311Q	probably benign	Het
Ly6e	T	A	15: 74,957,833	V24D	probably damaging	Het
Magi3	T	C	3: 104,089,555	T225A	probably damaging	Het
Mark1	C	A	1: 184,907,089	R577L	probably benign	Het
Mlxip	G	T	5: 123,395,065	V46L	probably benign	Het
Mrpl40	T	C	16: 18,872,558	D134G	probably benign	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nalcn	T	C	14: 123,295,448	Y1300C	probably damaging	Het
Nav3	T	C	10: 109,694,082	I2133V	possibly damaging	Het
Ndst3	T	C	3: 123,671,666	D219G	probably damaging	Het
Nfkbie	C	T	17: 45,556,239	S100L	probably benign	Het
Oard1	A	G	17: 48,416,760	I145V	probably benign	Het
Odf2	C	T	2: 29,926,097		probably null	Het
Olfr1033	T	C	2: 86,041,569	S85P	probably damaging	Het
Olfr574	T	C	7: 102,948,738	L81P	probably damaging	Het
Olfr733	C	A	14: 50,298,996	L104F	probably damaging	Het
Oplah	A	G	15: 76,297,955	L1035P	probably damaging	Het
Otud7a	T	C	7: 63,729,877	F284L	probably benign	Het
Parg	T	C	14: 32,262,736	V241A	probably damaging	Het
Pla2g4a	T	A	1: 149,861,051		probably null	Het
Psd4	C	T	2: 24,402,889	R684C	probably damaging	Het
Pttg1ip	T	C	10: 77,597,068		probably benign	Het
R3hcc1	A	G	14: 69,698,611	S250P	probably damaging	Het
Rere	T	A	4: 150,477,452	Y272N	unknown	Het
Selplg	A	G	5: 113,819,063	V394A	probably benign	Het
Senp7	T	G	16: 56,165,883	F559V	probably damaging	Het
Slc16a7	T	G	10: 125,233,439		probably null	Het
Smim3	A	T	18: 60,475,484	V32D	probably damaging	Het
Spsb3	A	G	17: 24,890,296	D47G	probably damaging	Het
St6gal2	A	T	17: 55,483,017	N351Y	probably benign	Het
Stk11	T	C	10: 80,126,377		probably benign	Het
Susd1	A	T	4: 59,329,491	L646Q	possibly damaging	Het
Tmprss11a	A	G	5: 86,428,578	V138A	probably benign	Het
Ttn	T	C	2: 76,750,470	K15033E	probably damaging	Het
Ttn	C	A	2: 76,898,625		probably benign	Het
Tyrp1	G	T	4: 80,837,512	D173Y	probably damaging	Het
Uncx	A	G	5: 139,546,767	I196V	possibly damaging	Het
Vamp4	A	T	1: 162,577,888	D28V	possibly damaging	Het
Zeb1	G	A	18: 5,759,007	C138Y	probably damaging	Het
Zfp985	G	A	4: 147,583,563	C296Y	probably 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
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
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'- CTGTGTCAACATATGAATGGGTC -3'
(R):5'- TCAGAAACTCAGACTGTGGTAAG -3'

Sequencing Primer
(F):5'- CCAATAACCCCATGATTGGTGTG -3'
(R):5'- CAGACTGTGGTAAGATTGTATTTCAG -3'

Posted On

2015-07-21