Mutagenetix > Incidental Mutation

Incidental Mutation 'R2254:Or51ag1'

241872

Institutional Source

Beutler Lab

Gene Symbol

Or51ag1

Ensembl Gene

ENSMUSG00000045584

Gene Name

olfactory receptor family 51 subfamily AG member 1

Synonyms

GA_x6K02T2PBJ9-6221839-6220892, Olfr610, MOR9-2

MMRRC Submission

040254-MU

Accession Numbers

Essential gene?

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

Stock #

R2254 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103155204-103156151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103155271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 294 (V294A)

Ref Sequence

ENSEMBL: ENSMUSP00000150921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063109] [ENSMUST00000217627]

AlphaFold

E9Q598

Predicted Effect

probably damaging
Transcript: ENSMUST00000063109
AA Change: V294A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052577
Gene: ENSMUSG00000045584
AA Change: V294A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	3.5e-106	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1.9e-10	PFAM
Pfam:7tm_1	43	295	1.4e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213422

Predicted Effect

probably damaging
Transcript: ENSMUST00000217627
AA Change: V294A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,311,365 (GRCm39)	E260G	probably benign	Het
AI429214	G	T	8: 37,460,920 (GRCm39)	D23Y	possibly damaging	Het
Alms1	A	G	6: 85,596,830 (GRCm39)	Y1021C	probably damaging	Het
Ang5	A	G	14: 44,200,074 (GRCm39)	D46G	probably benign	Het
Ano9	T	A	7: 140,683,003 (GRCm39)	D635V	probably benign	Het
Apob	C	T	12: 8,061,256 (GRCm39)	T3246I	possibly damaging	Het
Arhgef25	T	C	10: 127,025,390 (GRCm39)	E63G	probably benign	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Cdcp3	G	T	7: 130,824,634 (GRCm39)	C243F	probably damaging	Het
Cdh2	A	T	18: 16,776,985 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,958,405 (GRCm39)	V255I	probably damaging	Het
Dnhd1	T	A	7: 105,352,979 (GRCm39)	S2711T	probably damaging	Het
Gabrg1	T	A	5: 70,939,707 (GRCm39)	K137*	probably null	Het
Gdi2	T	A	13: 3,604,400 (GRCm39)		probably null	Het
Glyr1	A	G	16: 4,836,877 (GRCm39)	V429A	probably benign	Het
Gm5938	T	A	X: 77,172,161 (GRCm39)		probably null	Het
Golt1b	T	C	6: 142,341,979 (GRCm39)	L121P	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Ifi204	G	A	1: 173,589,296 (GRCm39)	T45M	possibly damaging	Het
Il18r1	A	G	1: 40,530,380 (GRCm39)	N369S	possibly damaging	Het
Kcnh1	G	T	1: 192,187,722 (GRCm39)		probably null	Het
Kitl	G	A	10: 99,915,993 (GRCm39)		probably null	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Lax1	A	G	1: 133,607,971 (GRCm39)	S257P	probably damaging	Het
Lepr	T	C	4: 101,672,309 (GRCm39)	I1111T	probably benign	Het
Lrrcc1	G	A	3: 14,612,315 (GRCm39)	R356H	probably damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Med11	T	C	11: 70,342,921 (GRCm39)		probably null	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nup93	T	C	8: 94,954,485 (GRCm39)		probably null	Het
Ovch2	A	G	7: 107,389,402 (GRCm39)	V342A	probably benign	Het
Ovgp1	A	G	3: 105,894,228 (GRCm39)		probably benign	Het
Oxtr	A	T	6: 112,466,067 (GRCm39)	L231Q	probably damaging	Het
Prap1	A	G	7: 139,676,075 (GRCm39)	T30A	probably damaging	Het
Scg2	G	A	1: 79,414,217 (GRCm39)	P169S	probably damaging	Het
Scube2	A	G	7: 109,424,666 (GRCm39)	V549A	possibly damaging	Het
Slc22a12	A	T	19: 6,592,571 (GRCm39)	V57D	possibly damaging	Het
Slc22a28	A	C	19: 8,041,858 (GRCm39)	C450G	probably benign	Het
Tas2r120	A	T	6: 132,634,572 (GRCm39)	Q218L	probably benign	Het
Tbx15	A	G	3: 99,259,190 (GRCm39)	T354A	possibly damaging	Het
Trim24	A	G	6: 37,935,612 (GRCm39)	T868A	probably benign	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr20rt	T	A	12: 65,273,007 (GRCm39)	W56R	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp40	T	C	17: 23,397,344 (GRCm39)	D51G	possibly damaging	Het
Zfp64	G	A	2: 168,768,662 (GRCm39)	H317Y	probably damaging	Het

Other mutations in Or51ag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Or51ag1	APN	7	103,156,003 (GRCm39)	missense	possibly damaging	0.67
IGL02179:Or51ag1	APN	7	103,155,934 (GRCm39)	missense	probably damaging	1.00
IGL02303:Or51ag1	APN	7	103,155,295 (GRCm39)	missense	probably benign	0.05
IGL02507:Or51ag1	APN	7	103,155,925 (GRCm39)	nonsense	probably null
IGL02562:Or51ag1	APN	7	103,155,423 (GRCm39)	nonsense	probably null
IGL02806:Or51ag1	APN	7	103,155,210 (GRCm39)	missense	probably benign	0.10
R0743:Or51ag1	UTSW	7	103,156,069 (GRCm39)	nonsense	probably null
R0884:Or51ag1	UTSW	7	103,156,069 (GRCm39)	nonsense	probably null
R1673:Or51ag1	UTSW	7	103,155,896 (GRCm39)	missense	probably damaging	0.99
R1752:Or51ag1	UTSW	7	103,155,765 (GRCm39)	missense	probably benign	0.02
R1800:Or51ag1	UTSW	7	103,155,248 (GRCm39)	missense	possibly damaging	0.89
R2043:Or51ag1	UTSW	7	103,156,150 (GRCm39)	start codon destroyed	probably null	0.98
R2566:Or51ag1	UTSW	7	103,155,367 (GRCm39)	missense	probably benign	0.08
R4433:Or51ag1	UTSW	7	103,155,346 (GRCm39)	missense	probably benign	0.04
R5206:Or51ag1	UTSW	7	103,155,309 (GRCm39)	nonsense	probably null
R5470:Or51ag1	UTSW	7	103,155,716 (GRCm39)	missense	probably benign	0.00
R6020:Or51ag1	UTSW	7	103,156,006 (GRCm39)	missense	probably benign
R6848:Or51ag1	UTSW	7	103,155,664 (GRCm39)	missense	possibly damaging	0.50
R7222:Or51ag1	UTSW	7	103,155,664 (GRCm39)	missense	possibly damaging	0.50
R7832:Or51ag1	UTSW	7	103,155,586 (GRCm39)	missense	probably damaging	1.00
R7837:Or51ag1	UTSW	7	103,156,052 (GRCm39)	missense	possibly damaging	0.80
R7893:Or51ag1	UTSW	7	103,155,817 (GRCm39)	missense	possibly damaging	0.86
R9293:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9335:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9567:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9615:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00
R9653:Or51ag1	UTSW	7	103,155,727 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTATGCGTTTGATAGAGGAATCC -3'
(R):5'- TGAAAGCCTTCAACACTTGC -3'

Sequencing Primer
(F):5'- CGTTTGATAGAGGAATCCACACTG -3'
(R):5'- GAAAGCCTTCAACACTTGCATTTC -3'

Posted On

2014-10-16