Mutagenetix > Incidental Mutations

Incidental Mutation 'R2304:Vmn1r184'

244526

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r184

Ensembl Gene

ENSMUSG00000046130

Gene Name

vomeronasal 1 receptor, 184

Synonyms

MMRRC Submission

040303-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2304 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26260334-26270619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26267125 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000154576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057123] [ENSMUST00000227230] [ENSMUST00000227232] [ENSMUST00000227534] [ENSMUST00000227790] [ENSMUST00000228145] [ENSMUST00000228369]

Predicted Effect

probably damaging
Transcript: ENSMUST00000057123
AA Change: S99P

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

SMART Domains

Protein: ENSMUSP00000061885
Gene: ENSMUSG00000046130
AA Change: S99P

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	308	1.7e-7	PFAM
Pfam:V1R	35	297	7.5e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227230
AA Change: S99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227232
AA Change: S99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227534
AA Change: S99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227790
AA Change: S99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228145
AA Change: S99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228369
AA Change: S99P

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,092,366	R806S	probably damaging	Het
Ccdc187	T	C	2: 26,281,017	K483R	possibly damaging	Het
Dcdc5	T	A	2: 106,336,143		noncoding transcript	Het
Dvl1	C	T	4: 155,855,584	S391F	probably damaging	Het
Erg28	A	G	12: 85,816,163	L125P	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm5449	G	T	13: 53,525,863		noncoding transcript	Het
Grid2ip	T	C	5: 143,387,840	Y796H	probably damaging	Het
Mcrip1	A	T	11: 120,544,693	F39I	probably damaging	Het
Olfr1135	T	A	2: 87,671,894	I158L	probably benign	Het
Prss53	T	C	7: 127,888,307	N291D	probably benign	Het
Ptpru	A	T	4: 131,772,568	V1255D	probably damaging	Het
Rbl1	T	C	2: 157,147,631	T1023A	probably benign	Het
Rnaseh2b	T	C	14: 62,361,389	S188P	probably damaging	Het
Sh2d6	T	C	6: 72,520,559	E20G	probably damaging	Het
Slc13a5	A	G	11: 72,259,039	V172A	probably damaging	Het
Slco5a1	C	T	1: 12,879,262	G635S	probably damaging	Het
Sp8	G	T	12: 118,848,569	S53I	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Togaram1	G	T	12: 64,976,856		probably null	Het
Trip11	A	T	12: 101,898,977	F146I	possibly damaging	Het
Xpot	T	C	10: 121,611,583	I325V	probably benign	Het
Zfp786	A	G	6: 47,820,699	L435P	probably damaging	Het

Other mutations in Vmn1r184

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Vmn1r184	APN	7	26267437	missense	probably damaging	1.00
IGL01411:Vmn1r184	APN	7	26266895	missense	probably benign	0.06
IGL02961:Vmn1r184	APN	7	26267650	missense	probably benign	0.27
IGL03271:Vmn1r184	APN	7	26267609	missense	probably benign
R0302:Vmn1r184	UTSW	7	26267543	missense	probably damaging	1.00
R0384:Vmn1r184	UTSW	7	26267651	missense	probably benign	0.41
R0591:Vmn1r184	UTSW	7	26267075	missense	probably damaging	0.98
R0620:Vmn1r184	UTSW	7	26267177	missense	possibly damaging	0.46
R1644:Vmn1r184	UTSW	7	26267245	missense	probably benign	0.00
R2329:Vmn1r184	UTSW	7	26266962	missense	probably damaging	1.00
R3522:Vmn1r184	UTSW	7	26267583	nonsense	probably null
R5020:Vmn1r184	UTSW	7	26267530	missense	possibly damaging	0.87
R5030:Vmn1r184	UTSW	7	26267456	missense	probably benign	0.25
R5049:Vmn1r184	UTSW	7	26267368	missense	possibly damaging	0.49
R5076:Vmn1r184	UTSW	7	26266921	missense	probably benign	0.00
R5213:Vmn1r184	UTSW	7	26267711	missense	probably damaging	0.99
R5554:Vmn1r184	UTSW	7	26266988	missense	probably damaging	1.00
R6146:Vmn1r184	UTSW	7	26267392	missense	probably benign	0.08
R6868:Vmn1r184	UTSW	7	26267302	missense	probably benign	0.00
R6937:Vmn1r184	UTSW	7	26267325	missense	probably benign	0.08
R6943:Vmn1r184	UTSW	7	26267138	missense	possibly damaging	0.77
R7190:Vmn1r184	UTSW	7	26267680	missense	probably damaging	1.00
R7239:Vmn1r184	UTSW	7	26267177	missense	possibly damaging	0.79
R7472:Vmn1r184	UTSW	7	26267399	missense	possibly damaging	0.82
R8258:Vmn1r184	UTSW	7	26267261	missense	probably benign	0.44
R8259:Vmn1r184	UTSW	7	26267261	missense	probably benign	0.44
Z1177:Vmn1r184	UTSW	7	26266990	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCACAAACTACAGTTGGAATTCTGG -3'
(R):5'- TTCAGGGAACATTACGAATGCTG -3'

Sequencing Primer
(F):5'- CTAGTCCTTTACTACAGAAAATGCAG -3'
(R):5'- GGAACATTACGAATGCTGCATAG -3'

Posted On

2014-10-30