Mutagenetix > Incidental Mutations

Incidental Mutation 'R2235:Vmn2r124'

240417

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r124

Ensembl Gene

ENSMUSG00000094396

Gene Name

vomeronasal 2, receptor 124

Synonyms

Gm7196, Vmn2r-ps113

MMRRC Submission

040236-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R2235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18049424-18079732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18049665 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 61 (H61L)

Ref Sequence

ENSEMBL: ENSMUSP00000155888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176802] [ENSMUST00000231546]

Predicted Effect

probably benign
Transcript: ENSMUST00000176802
AA Change: H61L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: H61L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	84	449	2.2e-37	PFAM
Pfam:NCD3G	510	563	9.3e-21	PFAM
Pfam:7tm_3	596	831	1.6e-52	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231546
AA Change: H61L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,642,064	V256A	probably benign	Het
Acbd6	A	G	1: 155,558,708	D24G	probably damaging	Het
Adcy2	A	T	13: 68,668,492	Y792N	probably damaging	Het
Alpk1	T	C	3: 127,680,920	K478R	probably benign	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Bach1	A	G	16: 87,720,113	D514G	probably damaging	Het
BC035947	A	T	1: 78,497,962	D644E	probably damaging	Het
Ccdc129	A	T	6: 55,897,812	H249L	possibly damaging	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Clca1	G	T	3: 145,009,068	P596Q	possibly damaging	Het
Cldn34b3	A	T	X: 76,267,224	I133F	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Csta1	C	T	16: 36,125,075	V23I	probably damaging	Het
Cts6	T	A	13: 61,195,433	I325F	probably damaging	Het
Dnah6	T	C	6: 73,100,085	D2347G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Fam160a1	A	T	3: 85,661,101	L1037Q	probably damaging	Het
Fndc11	A	G	2: 181,222,274	S291G	possibly damaging	Het
Hid1	A	G	11: 115,351,119	I555T	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc49	A	T	9: 60,598,157	F538L	possibly damaging	Het
Ly6h	A	G	15: 75,565,189	S113P	probably benign	Het
Mto1	A	C	9: 78,457,564	T362P	possibly damaging	Het
Myot	A	G	18: 44,354,272	D392G	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Olfr518	A	G	7: 108,880,965	F214L	probably benign	Het
Osbpl6	T	C	2: 76,586,769	F577L	probably damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Pds5a	A	T	5: 65,654,098	F331I	probably damaging	Het
Pld3	G	A	7: 27,541,107	T136M	probably benign	Het
Prph2	A	T	17: 46,911,166	D157V	probably damaging	Het
Racgap1	A	G	15: 99,626,536	S357P	probably benign	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc4a11	T	C	2: 130,685,624	E617G	probably benign	Het
Smap1	T	C	1: 23,859,058	N99S	probably benign	Het
Smg7	A	T	1: 152,868,313	Y40N	probably damaging	Het
Sox4	C	T	13: 28,952,630	R131Q	probably damaging	Het
Spaca6	T	C	17: 17,838,245		probably null	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Thap4	G	T	1: 93,725,212	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,282,086	T40K	probably benign	Het
Tpr	T	A	1: 150,442,092	F2117Y	probably benign	Het
Traf5	T	C	1: 192,054,391	M125V	probably damaging	Het
Trim65	G	T	11: 116,130,677	T110K	possibly damaging	Het
Ubp1	T	G	9: 113,964,644	S340R	probably damaging	Het
Vit	T	C	17: 78,605,438	S267P	probably benign	Het
Zfp990	T	A	4: 145,537,891	H486Q	probably damaging	Het
Zkscan6	T	C	11: 65,828,272	S373P	probably benign	Het

Other mutations in Vmn2r124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Vmn2r124	APN	17	18062670	missense	probably benign	0.04
IGL01356:Vmn2r124	APN	17	18073471	missense	probably benign	0.08
IGL01387:Vmn2r124	APN	17	18062926	missense	probably damaging	0.98
IGL01413:Vmn2r124	APN	17	18062565	missense	probably benign	0.41
IGL01550:Vmn2r124	APN	17	18063355	critical splice donor site	probably null
IGL01759:Vmn2r124	APN	17	18064068	missense	probably benign	0.00
IGL01762:Vmn2r124	APN	17	18063172	missense	possibly damaging	0.51
IGL02132:Vmn2r124	APN	17	18064229	splice site	probably benign
IGL02290:Vmn2r124	APN	17	18073335	missense	probably benign	0.09
IGL02370:Vmn2r124	APN	17	18064191	missense	probably benign	0.14
IGL02527:Vmn2r124	APN	17	18066502	critical splice acceptor site	probably null
PIT4280001:Vmn2r124	UTSW	17	18063225	missense	probably benign	0.22
PIT4514001:Vmn2r124	UTSW	17	18073712	missense	probably benign	0.01
R0362:Vmn2r124	UTSW	17	18064224	critical splice donor site	probably null
R0401:Vmn2r124	UTSW	17	18064145	missense	probably damaging	0.99
R0513:Vmn2r124	UTSW	17	18073729	missense	possibly damaging	0.89
R1139:Vmn2r124	UTSW	17	18073790	missense	possibly damaging	0.56
R1513:Vmn2r124	UTSW	17	18063273	missense	probably damaging	1.00
R1669:Vmn2r124	UTSW	17	18062944	missense	possibly damaging	0.94
R1710:Vmn2r124	UTSW	17	18061925	splice site	probably benign
R1852:Vmn2r124	UTSW	17	18063174	missense	probably benign
R1860:Vmn2r124	UTSW	17	18049497	missense	probably benign	0.11
R1953:Vmn2r124	UTSW	17	18062860	missense	probably benign	0.08
R2233:Vmn2r124	UTSW	17	18049665	missense	possibly damaging	0.95
R2234:Vmn2r124	UTSW	17	18049665	missense	possibly damaging	0.95
R2397:Vmn2r124	UTSW	17	18049597	missense	possibly damaging	0.95
R2519:Vmn2r124	UTSW	17	18074018	missense	probably damaging	1.00
R3845:Vmn2r124	UTSW	17	18073691	missense	possibly damaging	0.90
R3846:Vmn2r124	UTSW	17	18073691	missense	possibly damaging	0.90
R4594:Vmn2r124	UTSW	17	18073969	missense	probably damaging	1.00
R4612:Vmn2r124	UTSW	17	18063022	missense	probably benign	0.12
R4790:Vmn2r124	UTSW	17	18049593	missense	probably damaging	1.00
R4809:Vmn2r124	UTSW	17	18073745	missense	probably benign	0.00
R5227:Vmn2r124	UTSW	17	18049557	missense	possibly damaging	0.95
R5254:Vmn2r124	UTSW	17	18063077	missense	probably benign	0.00
R5609:Vmn2r124	UTSW	17	18073840	missense	probably benign
R6145:Vmn2r124	UTSW	17	18062851	missense	probably benign	0.05
R6181:Vmn2r124	UTSW	17	18073757	missense	possibly damaging	0.93
R6271:Vmn2r124	UTSW	17	18062883	missense	probably benign	0.01
R7297:Vmn2r124	UTSW	17	18073573	missense	probably damaging	1.00
R7397:Vmn2r124	UTSW	17	18062685	missense	probably damaging	1.00
R7406:Vmn2r124	UTSW	17	18062044	missense	unknown
R7699:Vmn2r124	UTSW	17	18073723	missense	probably benign	0.00
R7859:Vmn2r124	UTSW	17	18061950	missense	probably damaging	1.00
R8121:Vmn2r124	UTSW	17	18062171	missense	probably benign
R8138:Vmn2r124	UTSW	17	18063348	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGACACTGTTCTGCATCAAG -3'
(R):5'- CCCCTGAGGAAAATAATCTAAAAGG -3'

Sequencing Primer
(F):5'- CTGGCTCTTGCAAATTTCC -3'
(R):5'- ATGGCTACACACTCTAAGT -3'

Posted On

2014-10-15