Mutagenetix > Incidental Mutation

Incidental Mutation 'R6183:Vmn1r54'

487621

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r54

Ensembl Gene

ENSMUSG00000047203

Gene Name

vomeronasal 1 receptor 54

Synonyms

V1ra9, VN7

Accession Numbers

Essential gene?

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

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90246088-90247035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90246272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 62 (M62K)

Ref Sequence

ENSEMBL: ENSMUSP00000154354 (fasta)

Gene Model

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

AlphaFold

Q9EPB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058039
AA Change: M62K

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: M62K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226921
AA Change: M62K

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,968,718 (GRCm39)	D352E	probably benign	Het
Adgrb3	T	A	1: 25,133,451 (GRCm39)	I972L	probably damaging	Het
Alg3	T	C	16: 20,429,391 (GRCm39)	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,681,177 (GRCm39)	G816D	probably damaging	Het
Ccdc121	T	C	5: 31,645,320 (GRCm39)	Y358H	probably damaging	Het
Ces1g	C	T	8: 94,057,867 (GRCm39)	V145M	possibly damaging	Het
Clip1	A	G	5: 123,780,667 (GRCm39)	S339P	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,182,875 (GRCm39)		probably benign	Het
Dnah12	T	A	14: 26,583,726 (GRCm39)	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,028,084 (GRCm39)	T416A	probably benign	Het
Ephb1	A	T	9: 102,072,524 (GRCm39)	I85N	probably damaging	Het
Etnppl	T	C	3: 130,413,966 (GRCm39)	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,432,949 (GRCm39)	T11A	probably benign	Het
Gm5458	C	A	14: 19,649,712 (GRCm39)	V171L	probably damaging	Het
Helb	G	T	10: 119,948,903 (GRCm39)		probably null	Het
Hnrnpll	A	G	17: 80,357,305 (GRCm39)	V237A	possibly damaging	Het
Hps3	T	C	3: 20,063,032 (GRCm39)	T712A	probably benign	Het
Ibsp	A	G	5: 104,453,896 (GRCm39)	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,410,056 (GRCm39)	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,355,108 (GRCm39)	Q58K	probably damaging	Het
Iqcg	T	C	16: 32,851,293 (GRCm39)	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,420,332 (GRCm39)	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 141,783,524 (GRCm39)	C42F	unknown	Het
Lmod3	T	C	6: 97,229,514 (GRCm39)	N7D	probably damaging	Het
Lvrn	A	G	18: 46,983,752 (GRCm39)	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,403,593 (GRCm39)	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,476 (GRCm39)	V68D	probably damaging	Het
Or4e5	T	A	14: 52,728,188 (GRCm39)	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,885,315 (GRCm39)	I162F	probably damaging	Het
Prokr1	T	C	6: 87,565,834 (GRCm39)	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,348,955 (GRCm39)		probably benign	Het
Rgl1	C	T	1: 152,462,321 (GRCm39)	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,455,265 (GRCm39)	W21R	probably benign	Het
Scart2	A	G	7: 139,875,947 (GRCm39)	T404A	possibly damaging	Het
Spast	A	G	17: 74,680,353 (GRCm39)	I438M	probably damaging	Het
Sptbn5	C	T	2: 119,889,898 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Tas1r1	A	G	4: 152,116,998 (GRCm39)	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,432,768 (GRCm39)	N439D	probably damaging	Het
Tjp2	C	T	19: 24,078,155 (GRCm39)	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,165,494 (GRCm39)	L47P	probably damaging	Het
Unc13a	A	T	8: 72,097,310 (GRCm39)	S1195T	probably damaging	Het
Usp54	T	C	14: 20,602,313 (GRCm39)	R1346G	probably damaging	Het
Vmn2r125	A	T	4: 156,702,364 (GRCm39)	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,644,766 (GRCm39)	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,664,192 (GRCm39)	N470K	probably damaging	Het
Zc3h7a	A	T	16: 10,965,234 (GRCm39)	I633N	possibly damaging	Het

Other mutations in Vmn1r54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Vmn1r54	APN	6	90,246,442 (GRCm39)	missense	probably damaging	1.00
IGL02421:Vmn1r54	APN	6	90,246,133 (GRCm39)	missense	probably benign	0.01
IGL02535:Vmn1r54	APN	6	90,246,260 (GRCm39)	missense	possibly damaging	0.78
IGL03083:Vmn1r54	APN	6	90,246,854 (GRCm39)	missense	possibly damaging	0.82
R0646:Vmn1r54	UTSW	6	90,246,635 (GRCm39)	missense	probably benign	0.00
R2047:Vmn1r54	UTSW	6	90,246,970 (GRCm39)	missense	probably damaging	1.00
R4409:Vmn1r54	UTSW	6	90,246,864 (GRCm39)	nonsense	probably null
R4467:Vmn1r54	UTSW	6	90,246,253 (GRCm39)	missense	probably damaging	1.00
R4812:Vmn1r54	UTSW	6	90,246,307 (GRCm39)	missense	probably benign	0.22
R5042:Vmn1r54	UTSW	6	90,246,422 (GRCm39)	missense	possibly damaging	0.53
R5555:Vmn1r54	UTSW	6	90,246,347 (GRCm39)	missense	probably benign	0.02
R6393:Vmn1r54	UTSW	6	90,246,304 (GRCm39)	missense	probably benign	0.45
R7216:Vmn1r54	UTSW	6	90,246,647 (GRCm39)	missense	probably damaging	1.00
R7480:Vmn1r54	UTSW	6	90,246,160 (GRCm39)	missense	possibly damaging	0.58
R8413:Vmn1r54	UTSW	6	90,246,413 (GRCm39)	missense	probably damaging	1.00
R8995:Vmn1r54	UTSW	6	90,246,668 (GRCm39)	missense	probably benign	0.22
R9055:Vmn1r54	UTSW	6	90,246,100 (GRCm39)	missense	probably benign	0.24
R9383:Vmn1r54	UTSW	6	90,247,009 (GRCm39)	missense	probably benign	0.03
R9406:Vmn1r54	UTSW	6	90,246,092 (GRCm39)	missense	probably damaging	0.99
R9657:Vmn1r54	UTSW	6	90,246,984 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACTGTCCCATAACACCGAG -3'
(R):5'- TTGCAAGGGGACTGCTAATG -3'

Sequencing Primer
(F):5'- TGTCCCATAACACCGAGATAAG -3'
(R):5'- CGCTTGAACTTTTCTAAGCAGGAG -3'

Posted On

2017-10-10