Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Vmn2r23'

385726

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r23

Ensembl Gene

ENSMUSG00000091620

Gene Name

vomeronasal 2, receptor 23

Synonyms

EG435916

MMRRC Submission

042577-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123702821-123742291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123733349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 537 (C537Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172391]

AlphaFold

E9PXI5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158091

Predicted Effect

probably damaging
Transcript: ENSMUST00000172391
AA Change: C537Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126682
Gene: ENSMUSG00000091620
AA Change: C537Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	79	461	1.7e-31	PFAM
Pfam:NCD3G	513	566	1.2e-23	PFAM
Pfam:7tm_3	596	834	1.5e-55	PFAM

Meta Mutation Damage Score

0.9698

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,053,076	S215R	possibly damaging	Het
9130011E15Rik	T	C	19: 45,950,707	T335A	probably benign	Het
Abcc9	T	C	6: 142,682,141	M388V	probably benign	Het
Acbd6	A	C	1: 155,601,529	T154P	probably benign	Het
Ago1	T	C	4: 126,453,654	D434G	probably damaging	Het
Ankib1	A	T	5: 3,769,652	M89K	probably benign	Het
Arap2	A	T	5: 62,676,525	H866Q	probably damaging	Het
BC017158	C	T	7: 128,276,473		probably benign	Het
Capn12	A	T	7: 28,890,370	H622L	probably benign	Het
Capns2	T	G	8: 92,901,902	F140V	probably damaging	Het
Catsper1	T	G	19: 5,335,963	F75V	probably benign	Het
Ccdc24	T	C	4: 117,872,100	N16S	probably benign	Het
Cdkn2aip	A	T	8: 47,712,929	L114Q	probably damaging	Het
Cenpe	T	A	3: 135,234,928	S649R	probably damaging	Het
Chgb	A	T	2: 132,793,682	R515W	probably damaging	Het
Chrnb1	A	G	11: 69,793,978	F123S	probably damaging	Het
Copz2	A	T	11: 96,857,551		probably null	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Daw1	C	A	1: 83,187,998	A178E	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Epb41l5	T	C	1: 119,555,071	D629G	probably benign	Het
Erap1	A	G	13: 74,690,710	E925G	probably benign	Het
Exoc7	A	C	11: 116,289,269	F657V	probably damaging	Het
Fam210b	G	C	2: 172,345,665	A2P	probably damaging	Homo
Fry	A	G	5: 150,398,254	E1018G	probably damaging	Het
Galc	A	T	12: 98,242,768	L15*	probably null	Het
Gm11232	T	A	4: 71,756,901	K121N	possibly damaging	Het
Gm17677	T	G	9: 35,742,169	F90V	probably benign	Het
Hectd1	A	T	12: 51,784,262	D931E	probably benign	Het
Hecw2	T	C	1: 53,832,671	H1372R	probably benign	Het
Ighv3-2	T	A	12: 114,033,986		noncoding transcript	Het
Kcns2	T	G	15: 34,839,605	S371R	probably damaging	Het
Kif23	T	C	9: 61,936,703	K175E	probably benign	Het
Kmt2c	G	A	5: 25,295,511	R436W	possibly damaging	Het
Lama5	A	G	2: 180,193,449	S1317P	probably benign	Het
Lce1e	T	C	3: 92,707,828	S71G	unknown	Het
Lrrc37a	T	A	11: 103,497,618	E2327V	unknown	Het
Map3k20	A	G	2: 72,402,067	M356V	probably benign	Het
Med12l	C	T	3: 59,261,929	A1580V	probably damaging	Het
Metap2	G	T	10: 93,889,600	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,972,970	T53S	probably benign	Het
Nasp	A	T	4: 116,602,185	D717E	probably damaging	Het
Ndnf	G	A	6: 65,703,571	R278H	possibly damaging	Het
Neb	A	T	2: 52,216,261	N4205K	probably damaging	Het
Nebl	A	T	2: 17,375,271	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,498,889	Y131H	probably damaging	Het
Olfr1157	G	T	2: 87,962,698	H65N	probably benign	Het
Olfr292	A	C	7: 86,694,479	T8P	probably benign	Het
Olfr381	A	G	11: 73,486,797	I9T	probably benign	Het
Oscp1	T	A	4: 126,076,762	C115S	probably benign	Het
Paip2	C	T	18: 35,613,359	R59C	possibly damaging	Het
Pcdhga4	G	A	18: 37,686,519	D374N	probably damaging	Het
Pcolce	G	T	5: 137,605,674		probably benign	Het
Pcyox1l	T	C	18: 61,699,397	E193G	probably damaging	Het
Pde6b	A	T	5: 108,425,330	Q522L	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phf11a	A	G	14: 59,284,438	F95L	probably benign	Het
Pja2	A	C	17: 64,309,058	S281A	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Pom121l2	T	C	13: 21,983,814	S752P	probably benign	Het
Ppl	T	C	16: 5,088,718	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,250,363	Y569C	probably damaging	Het
Prss37	G	A	6: 40,516,136	T132I	probably benign	Het
Psmf1	A	T	2: 151,729,457		probably benign	Het
Ptprj	A	C	2: 90,460,532	I528S	probably damaging	Het
Reg1	A	G	6: 78,428,213	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,707,217	N457S	probably benign	Het
Scn9a	T	C	2: 66,566,270	K93R	probably benign	Het
Sec16a	A	G	2: 26,439,519	V828A	probably benign	Het
Sec23b	T	A	2: 144,581,953	D507E	probably benign	Het
Sirt4	A	T	5: 115,482,791	F107L	probably benign	Het
Slc14a2	A	T	18: 78,150,401	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,300,860	S229P	probably benign	Het
Slc37a3	A	T	6: 39,352,717	C185*	probably null	Het
Slc5a2	A	T	7: 128,271,810	*154C	probably null	Het
Snx17	A	G	5: 31,195,794	S42G	possibly damaging	Het
Tgm6	T	C	2: 130,141,193	V234A	probably damaging	Het
Thbs4	A	G	13: 92,790,699	M94T	probably benign	Het
Thtpa	A	G	14: 55,072,148		probably benign	Het
Tie1	T	C	4: 118,483,755	E343G	probably damaging	Het
Tmem145	A	G	7: 25,308,602	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,537,999	S170G	probably benign	Het
Tnk2	T	A	16: 32,680,465	D865E	probably damaging	Het
Ttll8	T	C	15: 88,925,582	E337G	probably benign	Het
Ttn	G	A	2: 76,867,446		probably benign	Het
Tubgcp6	T	C	15: 89,106,291	E710G	probably damaging	Het
Txndc2	T	A	17: 65,638,060	H374L	probably benign	Het
Unc80	G	T	1: 66,674,732		probably null	Het
Vmn2r45	A	G	7: 8,483,117	F391L	probably damaging	Het
Vstm4	A	T	14: 32,919,245	T262S	probably benign	Het
Zfp180	C	T	7: 24,106,078	R641C	probably damaging	Het
Zfp979	A	T	4: 147,613,914	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,226,667		probably null	Het
Zswim5	T	A	4: 116,985,686	M876K	possibly damaging	Het

Other mutations in Vmn2r23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Vmn2r23	APN	6	123729725	missense	possibly damaging	0.89
IGL01012:Vmn2r23	APN	6	123729596	missense	probably benign
IGL01073:Vmn2r23	APN	6	123712800	missense	possibly damaging	0.82
IGL01547:Vmn2r23	APN	6	123704424	missense	possibly damaging	0.88
IGL01571:Vmn2r23	APN	6	123704407	missense	probably damaging	1.00
IGL01950:Vmn2r23	APN	6	123741886	missense	possibly damaging	0.80
IGL02028:Vmn2r23	APN	6	123741860	missense	probably damaging	1.00
IGL02248:Vmn2r23	APN	6	123741744	missense	probably damaging	0.96
IGL02318:Vmn2r23	APN	6	123741836	missense	probably benign	0.10
IGL02649:Vmn2r23	APN	6	123704478	missense	probably benign
IGL02831:Vmn2r23	APN	6	123704385	missense	probably benign	0.22
IGL02832:Vmn2r23	APN	6	123704396	missense	probably benign	0.00
IGL02865:Vmn2r23	APN	6	123741619	missense	probably damaging	1.00
IGL02964:Vmn2r23	APN	6	123741782	missense	possibly damaging	0.93
IGL03347:Vmn2r23	APN	6	123704374	missense	probably benign	0.01
IGL03396:Vmn2r23	APN	6	123729626	missense	probably damaging	1.00
PIT4472001:Vmn2r23	UTSW	6	123712977	missense	possibly damaging	0.62
R0597:Vmn2r23	UTSW	6	123729721	missense	probably benign	0.08
R0677:Vmn2r23	UTSW	6	123713451	missense	probably benign	0.00
R0904:Vmn2r23	UTSW	6	123742135	missense	probably damaging	1.00
R1330:Vmn2r23	UTSW	6	123742004	missense	probably damaging	1.00
R1424:Vmn2r23	UTSW	6	123713270	nonsense	probably null
R1629:Vmn2r23	UTSW	6	123713427	missense	probably benign	0.05
R1842:Vmn2r23	UTSW	6	123729690	missense	possibly damaging	0.77
R1867:Vmn2r23	UTSW	6	123702915	missense	probably damaging	1.00
R1919:Vmn2r23	UTSW	6	123713010	missense	possibly damaging	0.94
R2087:Vmn2r23	UTSW	6	123741499	missense	probably benign	0.00
R2338:Vmn2r23	UTSW	6	123704425	missense	possibly damaging	0.88
R2568:Vmn2r23	UTSW	6	123742188	nonsense	probably null
R2867:Vmn2r23	UTSW	6	123713164	missense	possibly damaging	0.94
R2867:Vmn2r23	UTSW	6	123713164	missense	possibly damaging	0.94
R3500:Vmn2r23	UTSW	6	123713170	missense	possibly damaging	0.81
R3789:Vmn2r23	UTSW	6	123741389	missense	probably damaging	1.00
R4164:Vmn2r23	UTSW	6	123729738	missense	probably benign
R4506:Vmn2r23	UTSW	6	123702925	missense	probably damaging	1.00
R4652:Vmn2r23	UTSW	6	123741730	missense	probably damaging	1.00
R4697:Vmn2r23	UTSW	6	123741826	missense	probably damaging	1.00
R4840:Vmn2r23	UTSW	6	123713074	missense	probably damaging	1.00
R5276:Vmn2r23	UTSW	6	123712977	missense	possibly damaging	0.62
R5392:Vmn2r23	UTSW	6	123704364	missense	probably benign	0.36
R5528:Vmn2r23	UTSW	6	123713002	missense	probably damaging	1.00
R5529:Vmn2r23	UTSW	6	123713451	missense	probably benign	0.00
R5664:Vmn2r23	UTSW	6	123713074	missense	probably damaging	1.00
R5749:Vmn2r23	UTSW	6	123733273	missense	probably benign
R5761:Vmn2r23	UTSW	6	123712759	missense	probably benign	0.39
R5762:Vmn2r23	UTSW	6	123733393	missense	probably damaging	1.00
R5868:Vmn2r23	UTSW	6	123712942	missense	probably benign	0.12
R5935:Vmn2r23	UTSW	6	123741895	missense	possibly damaging	0.94
R6242:Vmn2r23	UTSW	6	123704400	missense	possibly damaging	0.82
R6416:Vmn2r23	UTSW	6	123712902	missense	probably damaging	1.00
R6524:Vmn2r23	UTSW	6	123713425	missense	probably damaging	1.00
R6576:Vmn2r23	UTSW	6	123733273	missense	probably benign
R6925:Vmn2r23	UTSW	6	123704553	missense	probably damaging	1.00
R7148:Vmn2r23	UTSW	6	123713022	missense	probably benign
R7215:Vmn2r23	UTSW	6	123704364	missense	probably benign	0.36
R7252:Vmn2r23	UTSW	6	123741581	missense	probably damaging	0.97
R7403:Vmn2r23	UTSW	6	123704579	missense	probably benign	0.01
R8015:Vmn2r23	UTSW	6	123704541	missense	probably benign	0.00
R8143:Vmn2r23	UTSW	6	123741353	missense	probably damaging	0.99
R8474:Vmn2r23	UTSW	6	123704640	missense	probably benign	0.36
R8520:Vmn2r23	UTSW	6	123741656	missense	probably damaging	0.99
R8679:Vmn2r23	UTSW	6	123713472	missense	probably damaging	0.99
R8713:Vmn2r23	UTSW	6	123703032	missense
R8966:Vmn2r23	UTSW	6	123742120	missense	possibly damaging	0.94
R9124:Vmn2r23	UTSW	6	123742079	missense	possibly damaging	0.57
R9163:Vmn2r23	UTSW	6	123741823	missense	probably damaging	1.00
R9189:Vmn2r23	UTSW	6	123704364	missense	probably benign	0.36
R9451:Vmn2r23	UTSW	6	123733393	missense	probably damaging	1.00
R9495:Vmn2r23	UTSW	6	123712713	missense	probably benign	0.30
R9514:Vmn2r23	UTSW	6	123712713	missense	probably benign	0.30
RF018:Vmn2r23	UTSW	6	123713116	missense	probably benign	0.00
T0975:Vmn2r23	UTSW	6	123713161	missense	probably benign	0.00
Z1088:Vmn2r23	UTSW	6	123742108	missense	probably damaging	0.98
Z1177:Vmn2r23	UTSW	6	123729725	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAGTACCCAGATGTCCAGCTG -3'
(R):5'- CACTAAACTCAGTGCTGTTTTGC -3'

Sequencing Primer
(F):5'- CCAGCTGTAATTTACCATCTGGATG -3'
(R):5'- CACTCTATAGATCAGGATGGCCTTG -3'

Posted On

2016-05-10