Mutagenetix > Incidental Mutation

Incidental Mutation 'R2566:Or51ag1'

254468

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

040425-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2566 (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 103155367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 262 (M262T)

Ref Sequence

ENSEMBL: ENSMUSP00000150921 (fasta)

Gene Model

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

AlphaFold

E9Q598

Predicted Effect

probably benign
Transcript: ENSMUST00000063109
AA Change: M262T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000052577
Gene: ENSMUSG00000045584
AA Change: M262T

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 benign
Transcript: ENSMUST00000217627
AA Change: M262T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,055,701 (GRCm39)	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,055,783 (GRCm39)	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 112,964,359 (GRCm39)		probably benign	Het
Ahi1	T	A	10: 20,846,810 (GRCm39)	C413*	probably null	Het
Alms1	T	A	6: 85,599,464 (GRCm39)	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,225,220 (GRCm39)	A894S	probably benign	Het
Arhgap33	C	A	7: 30,226,654 (GRCm39)	V494L	probably damaging	Het
Atic	G	T	1: 71,608,130 (GRCm39)	V275F	probably damaging	Het
Atoh1	T	A	6: 64,706,668 (GRCm39)	V121E	probably damaging	Het
Atp5pd	T	A	11: 115,306,864 (GRCm39)		probably null	Het
Baiap2l2	A	T	15: 79,146,174 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,465,227 (GRCm39)	T1664S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,835,464 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,692,621 (GRCm39)		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,500,368 (GRCm39)	F457S	probably damaging	Het
Disp3	T	A	4: 148,325,880 (GRCm39)	T1293S	probably damaging	Het
Dock10	T	A	1: 80,517,970 (GRCm39)	I1348F	possibly damaging	Het
Dsp	A	T	13: 38,380,380 (GRCm39)	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,237,477 (GRCm39)	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,289,295 (GRCm39)	I259N	probably benign	Het
Fam149b	A	T	14: 20,425,578 (GRCm39)	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,458,285 (GRCm39)	K102E	probably benign	Het
Fzd7	C	A	1: 59,523,695 (GRCm39)	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,966,330 (GRCm39)	I35N	probably damaging	Het
Gars1	T	A	6: 55,042,548 (GRCm39)	M427K	probably damaging	Het
Gimap4	C	T	6: 48,667,799 (GRCm39)	R57C	probably damaging	Het
Gm11232	C	A	4: 71,676,022 (GRCm39)	W41L	probably benign	Het
Gm15737	T	A	6: 92,856,701 (GRCm39)	C43*	probably null	Het
Gpr180	T	C	14: 118,377,185 (GRCm39)	V62A	probably benign	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,591,197 (GRCm39)	E27V	possibly damaging	Het
Kcnq3	T	C	15: 65,903,276 (GRCm39)	T145A	probably damaging	Het
Krt8	A	G	15: 101,906,459 (GRCm39)	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,676,492 (GRCm39)		probably benign	Het
Lbr	G	T	1: 181,663,692 (GRCm39)	D109E	probably damaging	Het
Ldc1	A	T	4: 130,103,681 (GRCm39)	L420Q	probably benign	Het
Med23	A	G	10: 24,764,473 (GRCm39)	H42R	probably damaging	Het
Mgat5	A	T	1: 127,234,741 (GRCm39)	M77L	probably benign	Het
Mlf1	A	T	3: 67,291,919 (GRCm39)	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,125,864 (GRCm39)	L343R	probably damaging	Het
Mrpl37	T	A	4: 106,921,690 (GRCm39)	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,536,836 (GRCm39)	C116*	probably null	Het
Muc6	A	G	7: 141,226,651 (GRCm39)	S1354P	possibly damaging	Het
Myh7	A	T	14: 55,220,699 (GRCm39)	D1033E	probably damaging	Het
Myo16	A	T	8: 10,644,820 (GRCm39)	E1717D	probably benign	Het
Myo1g	T	A	11: 6,462,539 (GRCm39)		probably null	Het
Or6c217	A	C	10: 129,737,964 (GRCm39)	L205R	probably damaging	Het
Pan2	T	C	10: 128,149,766 (GRCm39)	L576P	probably damaging	Het
Parp8	A	G	13: 117,032,223 (GRCm39)	S278P	possibly damaging	Het
Pdk2	A	G	11: 94,918,028 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,156,062 (GRCm39)	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,746,233 (GRCm39)	Y1919C	probably damaging	Het
Postn	T	A	3: 54,284,374 (GRCm39)	S614T	probably damaging	Het
Psmg1	A	T	16: 95,783,395 (GRCm39)	Y213*	probably null	Het
Rab11b	T	A	17: 33,966,692 (GRCm39)	T203S	probably benign	Het
Rad54l2	T	A	9: 106,580,825 (GRCm39)	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rapgef6	A	G	11: 54,578,537 (GRCm39)	T1028A	possibly damaging	Het
Rbm6	A	G	9: 107,669,197 (GRCm39)	S58P	possibly damaging	Het
Rreb1	G	T	13: 38,113,768 (GRCm39)	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 21,124,767 (GRCm39)	N345I	probably benign	Het
Sf3b2	A	T	19: 5,325,118 (GRCm39)	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,068,098 (GRCm39)	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,987,704 (GRCm39)	T668A	probably benign	Het
Stkld1	T	A	2: 26,840,650 (GRCm39)	I444N	probably damaging	Het
Sucla2	A	T	14: 73,790,244 (GRCm39)		probably benign	Het
Tmem67	T	A	4: 12,079,918 (GRCm39)	L190F	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trem2	G	A	17: 48,658,863 (GRCm39)	W191*	probably null	Het
Ube2d4	A	T	15: 58,718,528 (GRCm39)		noncoding transcript	Het
Uimc1	G	T	13: 55,223,617 (GRCm39)	D218E	probably damaging	Het
Wdr62	A	T	7: 29,973,424 (GRCm39)	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,310,203 (GRCm39)	V862A	probably damaging	Het
Zfp462	T	A	4: 55,008,522 (GRCm39)	S163T	probably benign	Het
Zfp704	T	C	3: 9,674,553 (GRCm39)	D76G	unknown	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
R2254:Or51ag1	UTSW	7	103,155,271 (GRCm39)	missense	probably damaging	1.00
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'- CAGTCTGTACCTAGGACTGAGG -3'
(R):5'- TCAACAGTGGCTTTGGGCTC -3'

Sequencing Primer
(F):5'- CTGTACCTAGGACTGAGGAATTGTC -3'
(R):5'- CTTTGTCATGCTCTCTACATTGGGG -3'

Posted On

2014-12-04