Mutagenetix > Incidental Mutation

Incidental Mutation 'R5819:Vmn2r13'

449216

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r13

Ensembl Gene

ENSMUSG00000091635

Gene Name

vomeronasal 2, receptor 13

Synonyms

Gm4867

MMRRC Submission

043399-MU

Accession Numbers

Essential gene?

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

Stock #

R5819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109156068-109192107 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109174100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 244 (M244L)

Ref Sequence

ENSEMBL: ENSMUSP00000052977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053253]

AlphaFold

L7N1X2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053253
AA Change: M244L

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052977
Gene: ENSMUSG00000091635
AA Change: M244L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	76	463	2.8e-29	PFAM
Pfam:NCD3G	506	560	1.3e-18	PFAM
Pfam:7tm_3	593	828	1.8e-54	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	T	3: 37,048,600	M4863L	probably benign	Het
Abca4	A	T	3: 122,136,981	I1376F	probably damaging	Het
Aggf1	T	C	13: 95,351,621	N673D	possibly damaging	Het
Avil	T	C	10: 127,009,998	F372S	probably damaging	Het
Bod1l	T	A	5: 41,832,605	E258D	probably benign	Het
Ccdc129	A	T	6: 55,897,891	K275N	probably benign	Het
Chek1	T	A	9: 36,710,405	H420L	probably benign	Het
Cyfip1	A	G	7: 55,879,151	I260M	probably damaging	Het
Dclk1	G	A	3: 55,489,864	V524I	probably damaging	Het
Efr3b	T	C	12: 3,992,965	M102V	probably benign	Het
Erc2	T	A	14: 28,141,369	I517N	probably damaging	Het
Fubp1	T	C	3: 152,220,553	I305T	probably damaging	Het
Galc	T	A	12: 98,216,261	D443V	probably benign	Het
Galnt4	T	A	10: 99,110,030	I539N	probably damaging	Het
Gm17093	G	T	14: 44,521,529	M169I	unknown	Het
Gm4858	A	G	3: 93,073,732	Y19C	probably damaging	Het
Htra1	T	C	7: 130,981,739	F363S	probably damaging	Het
Klhdc8b	G	A	9: 108,451,062	P64S	probably benign	Het
Kmt2c	A	G	5: 25,409,132		probably null	Het
Mettl21c	T	G	1: 44,009,722	K222Q	probably damaging	Het
Mga	A	C	2: 119,941,263	M1535L	possibly damaging	Het
Mov10	C	T	3: 104,801,512	G395D	probably damaging	Het
Ms4a10	C	A	19: 10,968,690	A26S	probably benign	Het
Naaladl1	A	G	19: 6,109,654	N372D	possibly damaging	Het
Olfr1275	A	T	2: 111,230,959	I278N	probably damaging	Het
Optc	T	C	1: 133,897,879	D303G	probably damaging	Het
Osmr	C	A	15: 6,815,787	V833L	probably benign	Het
Phf14	A	G	6: 11,997,252		probably null	Het
Pjvk	A	G	2: 76,658,369	I295V	probably benign	Het
Plppr4	T	A	3: 117,325,864	I299L	possibly damaging	Het
Prkg1	A	G	19: 31,585,672	S110P	probably benign	Het
Ptprq	T	A	10: 107,719,883		probably benign	Het
Rarb	T	G	14: 16,443,820	N156T	possibly damaging	Het
Rgl3	A	T	9: 21,981,602		probably null	Het
Ruvbl1	A	C	6: 88,483,115		probably null	Het
S1pr1	G	T	3: 115,712,140	C268*	probably null	Het
Sbk3	T	C	7: 4,969,997	D58G	probably benign	Het
Scgb2b3	T	A	7: 31,360,214	H45L	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Soga3	A	T	10: 29,197,273	M854L	probably benign	Het
Tas2r119	T	C	15: 32,177,306	L6P	probably damaging	Het
Tcp11	A	T	17: 28,069,236	F339L	probably damaging	Het
Tmprss5	T	A	9: 49,114,479		probably null	Het
Trnau1ap	A	G	4: 132,325,210		probably benign	Het
Trp53bp1	G	A	2: 121,208,392	R1397*	probably null	Het
Ubqln3	G	A	7: 104,141,467	P472L	probably benign	Het
Zfp777	C	T	6: 48,037,588	E395K	probably damaging	Het
Zfyve27	A	G	19: 42,183,496	S156G	probably benign	Het

Other mutations in Vmn2r13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Vmn2r13	APN	5	109156098	missense	probably damaging	1.00
IGL01373:Vmn2r13	APN	5	109156702	missense	probably damaging	1.00
IGL01946:Vmn2r13	APN	5	109174219	missense	probably benign	0.01
IGL01971:Vmn2r13	APN	5	109174115	missense	probably benign	0.01
IGL02636:Vmn2r13	APN	5	109192017	missense	probably damaging	0.98
IGL03062:Vmn2r13	APN	5	109156282	missense	probably damaging	1.00
IGL03173:Vmn2r13	APN	5	109171779	missense	possibly damaging	0.95
IGL03301:Vmn2r13	APN	5	109158089	missense	probably damaging	0.99
IGL03383:Vmn2r13	APN	5	109156532	missense	probably damaging	0.98
IGL03048:Vmn2r13	UTSW	5	109156285	missense	probably damaging	1.00
R0123:Vmn2r13	UTSW	5	109175049	missense	probably benign	0.00
R0134:Vmn2r13	UTSW	5	109175049	missense	probably benign	0.00
R0220:Vmn2r13	UTSW	5	109156466	missense	probably damaging	1.00
R0225:Vmn2r13	UTSW	5	109175049	missense	probably benign	0.00
R0393:Vmn2r13	UTSW	5	109156529	missense	probably benign	0.01
R0410:Vmn2r13	UTSW	5	109173813	missense	probably benign	0.35
R0787:Vmn2r13	UTSW	5	109156847	missense	probably damaging	0.99
R1200:Vmn2r13	UTSW	5	109174202	missense	probably damaging	1.00
R1448:Vmn2r13	UTSW	5	109174135	missense	probably damaging	1.00
R1782:Vmn2r13	UTSW	5	109158174	missense	probably benign	0.08
R1939:Vmn2r13	UTSW	5	109191986	missense	possibly damaging	0.88
R2029:Vmn2r13	UTSW	5	109192077	missense	probably benign	0.13
R2125:Vmn2r13	UTSW	5	109158192	missense	probably benign	0.00
R2126:Vmn2r13	UTSW	5	109158192	missense	probably benign	0.00
R2379:Vmn2r13	UTSW	5	109171778	missense	probably benign	0.05
R2680:Vmn2r13	UTSW	5	109174312	missense	possibly damaging	0.66
R2888:Vmn2r13	UTSW	5	109191974	missense	possibly damaging	0.88
R2889:Vmn2r13	UTSW	5	109191974	missense	possibly damaging	0.88
R2890:Vmn2r13	UTSW	5	109191974	missense	possibly damaging	0.88
R3014:Vmn2r13	UTSW	5	109171761	missense	possibly damaging	0.81
R3683:Vmn2r13	UTSW	5	109156855	missense	probably damaging	1.00
R4074:Vmn2r13	UTSW	5	109156700	missense	probably damaging	1.00
R4599:Vmn2r13	UTSW	5	109156456	missense	probably damaging	1.00
R4614:Vmn2r13	UTSW	5	109175199	missense	probably benign	0.01
R4805:Vmn2r13	UTSW	5	109156465	missense	probably damaging	1.00
R4822:Vmn2r13	UTSW	5	109174072	missense	probably damaging	0.99
R4943:Vmn2r13	UTSW	5	109175049	missense	probably benign	0.00
R5263:Vmn2r13	UTSW	5	109173975	missense	probably benign	0.00
R5297:Vmn2r13	UTSW	5	109191939	missense	probably benign	0.00
R5502:Vmn2r13	UTSW	5	109173714	missense	probably damaging	1.00
R5554:Vmn2r13	UTSW	5	109191994	missense	possibly damaging	0.49
R5563:Vmn2r13	UTSW	5	109173980	missense	probably benign	0.00
R6074:Vmn2r13	UTSW	5	109174301	missense	probably benign	0.04
R6416:Vmn2r13	UTSW	5	109174116	missense	probably damaging	0.99
R6419:Vmn2r13	UTSW	5	109175219	missense	possibly damaging	0.87
R6484:Vmn2r13	UTSW	5	109156674	nonsense	probably null
R6486:Vmn2r13	UTSW	5	109156559	missense	probably benign	0.05
R6545:Vmn2r13	UTSW	5	109156940	splice site	probably null
R6700:Vmn2r13	UTSW	5	109175072	missense	probably benign	0.00
R6897:Vmn2r13	UTSW	5	109158149	missense	possibly damaging	0.90
R6957:Vmn2r13	UTSW	5	109156887	nonsense	probably null
R7276:Vmn2r13	UTSW	5	109173779	missense	probably damaging	1.00
R7363:Vmn2r13	UTSW	5	109192043	missense	probably benign	0.03
R7443:Vmn2r13	UTSW	5	109192043	missense	probably benign	0.03
R7555:Vmn2r13	UTSW	5	109171691	splice site	probably null
R7607:Vmn2r13	UTSW	5	109173640	missense	probably damaging	0.98
R7719:Vmn2r13	UTSW	5	109171752	missense	probably benign	0.00
R8116:Vmn2r13	UTSW	5	109175060	missense	probably benign	0.12
R8242:Vmn2r13	UTSW	5	109175006	missense	possibly damaging	0.65
R8294:Vmn2r13	UTSW	5	109175112	missense	probably benign	0.02
R8340:Vmn2r13	UTSW	5	109174140	missense	probably benign	0.00
R8692:Vmn2r13	UTSW	5	109171648	missense	probably benign	0.03
R8742:Vmn2r13	UTSW	5	109156397	missense	probably benign	0.02
R9022:Vmn2r13	UTSW	5	109156376	missense	possibly damaging	0.94
R9281:Vmn2r13	UTSW	5	109156087	missense	probably damaging	1.00
R9529:Vmn2r13	UTSW	5	109156198	missense	probably damaging	1.00
R9708:Vmn2r13	UTSW	5	109174141	missense	probably benign	0.00
R9746:Vmn2r13	UTSW	5	109191907	critical splice donor site	probably null
X0066:Vmn2r13	UTSW	5	109156219	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GTGTGCAAAAGTAACAGTCCC -3'
(R):5'- CACACATTTGTCCCATGGC -3'

Sequencing Primer
(F):5'- TGCAAAAGTAACAGTCCCATGAAAG -3'
(R):5'- CCATGGCATGGTCTCCTTGATG -3'

Posted On

2016-12-20