Mutagenetix > Incidental Mutation

Incidental Mutation 'R8413:Vmn1r54'

652785

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r54

Ensembl Gene

ENSMUSG00000047203

Gene Name

vomeronasal 1 receptor 54

Synonyms

V1ra9, VN7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8413 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90246300-90271213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90269431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 109 (L109H)

Ref Sequence

ENSEMBL: ENSMUSP00000063052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058039] [ENSMUST00000226921]

AlphaFold

Q9EPB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000058039
AA Change: L109H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: L109H

Domain	Start	End	E-Value	Type
Pfam:TAS2R	11	307	1.2e-11	PFAM
Pfam:V1R	38	301	5.5e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226921
AA Change: L109H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,423,900	D86E	probably benign	Het
Adamts5	A	G	16: 85,866,618		probably null	Het
Arhgap31	T	C	16: 38,602,921	R928G	possibly damaging	Het
Birc6	T	C	17: 74,546,393	V164A	possibly damaging	Het
Cdh26	T	A	2: 178,468,229	H438Q	probably damaging	Het
Cfap65	T	A	1: 74,917,169	K1084*	probably null	Het
Csmd1	T	C	8: 15,900,676	H3511R	probably damaging	Het
Ebf1	T	A	11: 44,643,447	S178T	possibly damaging	Het
Eln	A	G	5: 134,726,521	V226A	unknown	Het
Fat4	A	T	3: 39,008,979		probably null	Het
Gcn1l1	C	T	5: 115,579,639	T222I	probably benign	Het
Gm11639	A	C	11: 104,920,309	K3192N	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Gpc6	T	A	14: 117,892,349	V387E	possibly damaging	Het
Gyg	C	T	3: 20,125,455	V255M	probably damaging	Het
Henmt1	T	A	3: 108,957,649	F146I	probably damaging	Het
Itpr3	T	A	17: 27,111,926	L1736Q	probably damaging	Het
Kcnh4	A	G	11: 100,749,793	V469A	possibly damaging	Het
Mybpc2	A	G	7: 44,508,305	L750P	probably damaging	Het
Naalad2	A	G	9: 18,330,643	V655A	probably damaging	Het
Nme8	C	T	13: 19,674,519	D289N	probably benign	Het
Olfr1109	T	C	2: 87,093,158	K80E	probably benign	Het
Olfr1199	T	A	2: 88,756,680		probably benign	Het
Olfr358	T	G	2: 37,005,390	T75P	probably damaging	Het
Olfr720	A	G	14: 14,175,416	V222A	probably benign	Het
Olfr727	C	G	14: 50,127,370	S264R	probably benign	Het
Olfr948	T	A	9: 39,319,105	K170*	probably null	Het
Phf24	T	A	4: 42,937,906	C173*	probably null	Het
Plcb2	A	G	2: 118,718,823	F353L	probably damaging	Het
Prss33	C	A	17: 23,833,956	W248L	probably damaging	Het
Rgs3	T	G	4: 62,626,017	L350R	possibly damaging	Het
Samd11	C	T	4: 156,249,273	G200D	probably damaging	Het
Sh3tc2	T	A	18: 61,990,802	V878E	probably damaging	Het
Sh3tc2	G	C	18: 62,015,071	G1284A	probably benign	Het
Skint5	A	G	4: 113,715,703	S780P	unknown	Het
Slc8a3	T	C	12: 81,314,678	K456E	probably damaging	Het
Smok2a	T	A	17: 13,225,612	H25Q	probably benign	Het
Srrt	A	G	5: 137,300,327	L225P	possibly damaging	Het
Stox1	C	T	10: 62,664,975	R602Q	probably damaging	Het
Tmem30a	A	T	9: 79,776,225	C157S	probably damaging	Het
Tnks1bp1	T	C	2: 85,062,278	S850P	probably damaging	Het
Trpm6	A	G	19: 18,832,485	I1082V	probably benign	Het
Ttll5	T	A	12: 85,919,121	N646K	probably benign	Het
Vmn1r179	A	T	7: 23,928,852	Y156F	probably benign	Het
Wdr17	T	C	8: 54,662,918	I617V	probably benign	Het
Zeb2	T	A	2: 44,996,171	Q958L	probably damaging	Het

Other mutations in Vmn1r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Vmn1r54	APN	6	90269460	missense	probably damaging	1.00
IGL02421:Vmn1r54	APN	6	90269151	missense	probably benign	0.01
IGL02535:Vmn1r54	APN	6	90269278	missense	possibly damaging	0.78
IGL03083:Vmn1r54	APN	6	90269872	missense	possibly damaging	0.82
R0646:Vmn1r54	UTSW	6	90269653	missense	probably benign	0.00
R2047:Vmn1r54	UTSW	6	90269988	missense	probably damaging	1.00
R4409:Vmn1r54	UTSW	6	90269882	nonsense	probably null
R4467:Vmn1r54	UTSW	6	90269271	missense	probably damaging	1.00
R4812:Vmn1r54	UTSW	6	90269325	missense	probably benign	0.22
R5042:Vmn1r54	UTSW	6	90269440	missense	possibly damaging	0.53
R5555:Vmn1r54	UTSW	6	90269365	missense	probably benign	0.02
R6183:Vmn1r54	UTSW	6	90269290	missense	possibly damaging	0.61
R6393:Vmn1r54	UTSW	6	90269322	missense	probably benign	0.45
R7216:Vmn1r54	UTSW	6	90269665	missense	probably damaging	1.00
R7480:Vmn1r54	UTSW	6	90269178	missense	possibly damaging	0.58
R8995:Vmn1r54	UTSW	6	90269686	missense	probably benign	0.22
R9055:Vmn1r54	UTSW	6	90269118	missense	probably benign	0.24
R9383:Vmn1r54	UTSW	6	90270027	missense	probably benign	0.03
R9406:Vmn1r54	UTSW	6	90269110	missense	probably damaging	0.99
R9657:Vmn1r54	UTSW	6	90270002	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACATATTGACCTGCCCATTGG -3'
(R):5'- GTAACTCATGGGTGCCAGAG -3'

Sequencing Primer
(F):5'- GACCTGCCCATTGGTCTCTTG -3'
(R):5'- TCATGGGTGCCAGAGAGCAC -3'

Posted On

2020-10-20