Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:Vmn2r78'

586578

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r78

Ensembl Gene

ENSMUSG00000091962

Gene Name

vomeronasal 2, receptor 78

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86915300-86955177 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86954344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 577 (K577*)

Ref Sequence

ENSEMBL: ENSMUSP00000126698 (fasta)

Gene Model

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

AlphaFold

K7N6U5

Predicted Effect

probably null
Transcript: ENSMUST00000170835
AA Change: K577*

SMART Domains

Protein: ENSMUSP00000126698
Gene: ENSMUSG00000091962
AA Change: K577*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,183,533	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,921,090	T75P	probably benign	Het
4930516K23Rik	T	C	7: 104,058,897	E235G	probably benign	Het
Adam15	A	G	3: 89,344,192	C449R	probably damaging	Het
Adam24	T	C	8: 40,680,255	V254A	probably benign	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,618,002	R98S	probably damaging	Het
Alg9	A	G	9: 50,789,535	I202V	probably benign	Het
Anks1b	G	A	10: 90,049,927	E162K	probably damaging	Het
Armc4	A	T	18: 7,211,593	D760E	probably benign	Het
Atp6v1b2	A	G	8: 69,103,476	T268A	probably benign	Het
Atxn1	C	T	13: 45,567,358	V354I	probably benign	Het
B3galt1	A	G	2: 68,118,552	T204A	probably damaging	Het
Catsperb	T	A	12: 101,588,285	I746K	probably benign	Het
Cdh23	G	A	10: 60,407,407	T1063M	probably benign	Het
Cherp	G	A	8: 72,464,258	R543C		Het
Cldn20	A	G	17: 3,532,999	D149G	probably damaging	Het
Clk2	A	G	3: 89,176,500	Q474R	probably benign	Het
Cp	A	G	3: 19,989,098	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,510,956	L29P	probably damaging	Het
Dscr3	A	C	16: 94,499,069	N275K	probably damaging	Het
Ebf3	C	T	7: 137,313,532	V93M	probably damaging	Het
Eef1akmt1	T	A	14: 57,549,871	M183L	probably damaging	Het
Fam160a1	G	T	3: 85,665,898	L915I	probably damaging	Het
Fam71d	T	C	12: 78,715,501		probably null	Het
Filip1l	A	G	16: 57,513,282	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,624,031	S283G	possibly damaging	Het
Fras1	A	T	5: 96,684,437	Y1543F	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gjd3	A	G	11: 98,982,475	V181A	probably damaging	Het
Gm49368	T	A	7: 128,112,258	C711*	probably null	Het
Gtf3c2	A	G	5: 31,172,997	S210P	probably benign	Het
Herc2	A	G	7: 56,134,800	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,631,624	D128E	probably benign	Het
Itgav	T	A	2: 83,747,875	D113E	probably benign	Het
Kcnd3	A	G	3: 105,459,617	M268V	probably benign	Het
Kirrel3	G	T	9: 34,939,112	G19V	probably damaging	Het
Klf17	T	G	4: 117,760,719	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,665,383	R22H	probably damaging	Het
Lysmd4	T	A	7: 67,226,289	Y233*	probably null	Het
Lyzl6	A	G	11: 103,635,006	V96A	probably benign	Het
Mki67	T	C	7: 135,700,915	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,504,528	H399Q	probably benign	Het
Nuggc	T	C	14: 65,648,174	V766A	probably damaging	Het
Oas1c	A	T	5: 120,802,179	D307E	probably damaging	Het
Olfr432	T	A	1: 174,050,700	M109K	possibly damaging	Het
Olfr785	T	C	10: 129,409,675	I103T	probably damaging	Het
P4ha3	T	C	7: 100,293,914	Y169H	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pkhd1	T	C	1: 20,347,361	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,411,290	D433G	probably benign	Het
Ptcd3	A	G	6: 71,908,707	S12P	probably benign	Het
Ptpn23	T	A	9: 110,387,608	Q1060L	probably benign	Het
Rai14	G	T	15: 10,574,828	N710K	probably benign	Het
Rai14	C	T	15: 10,593,103	G152R	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Satb2	A	G	1: 56,871,784	V234A	probably benign	Het
Scg2	T	C	1: 79,436,895	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,740,579	S230T	probably damaging	Het
Slc39a2	T	C	14: 51,895,416	V272A	probably damaging	Het
Smg7	T	A	1: 152,845,430	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,168,146	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,932,862	F102L	probably benign	Het
Sstr3	T	C	15: 78,540,517	E10G	probably benign	Het
Tekt3	A	T	11: 63,094,660	I431F	probably damaging	Het
Trio	C	T	15: 27,854,939	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,549,913	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,231,442	I815S	probably damaging	Het
Yes1	G	A	5: 32,645,086	R115Q	probably benign	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
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
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'- TGGAGCATTGGAAATTAAGATCAC -3'
(R):5'- GATGCAGCTAACCATAGTGGG -3'

Sequencing Primer
(F):5'- GCCCTAGACATGGATCAA -3'
(R):5'- TGCAGCTAACCATAGTGGGATAACC -3'

Posted On

2019-10-24