Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Or9q2'

366252

Institutional Source

Beutler Lab

Gene Symbol

Or9q2

Ensembl Gene

ENSMUSG00000044040

Gene Name

olfactory receptor family 9 subfamily Q member 2

Synonyms

GA_x6K02T2RE5P-4127765-4126821, Olfr1497, MOR212-1

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13772029-13772973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13772409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 189 (C189S)

Ref Sequence

ENSEMBL: ENSMUSP00000149151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061993] [ENSMUST00000217384]

AlphaFold

Q8VG11

Predicted Effect

probably damaging
Transcript: ENSMUST00000061993
AA Change: C189S

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

SMART Domains

Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: C189S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	302	7e-7	PFAM
Pfam:7tm_1	41	290	5.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217384
AA Change: C189S

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

Meta Mutation Damage Score

0.4686

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,029,804 (GRCm39)		probably null	Het
Aig1	T	C	10: 13,677,602 (GRCm39)	N130S	probably damaging	Het
Alx1	A	T	10: 102,861,047 (GRCm39)	Y160*	probably null	Het
Ap4e1	T	C	2: 126,902,358 (GRCm39)	I755T	probably benign	Het
Apoc3	C	A	9: 46,145,833 (GRCm39)	E21*	probably null	Het
Atp9b	G	T	18: 80,796,285 (GRCm39)	H919Q	probably damaging	Het
Cemip	T	G	7: 83,622,514 (GRCm39)	Y555S	probably damaging	Het
Cic	T	C	7: 24,971,025 (GRCm39)	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,588,470 (GRCm39)	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,859,954 (GRCm39)	S318P	probably benign	Het
Ddx21	A	G	10: 62,427,751 (GRCm39)	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,620 (GRCm39)	T974I	probably benign	Het
Duox1	A	G	2: 122,163,922 (GRCm39)	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,066,498 (GRCm39)	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,591,119 (GRCm39)	Q92L	possibly damaging	Het
Ercc4	C	A	16: 12,939,959 (GRCm39)	A73D	probably damaging	Het
Eva1c	A	T	16: 90,701,235 (GRCm39)	Y290F	probably damaging	Het
Galnt5	T	A	2: 57,918,156 (GRCm39)	V798E	possibly damaging	Het
Haus4	T	C	14: 54,786,342 (GRCm39)	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,594,556 (GRCm39)	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Lama3	T	C	18: 12,633,620 (GRCm39)	V1584A	probably benign	Het
Lamb1	A	G	12: 31,358,010 (GRCm39)	E1119G	probably damaging	Het
Lao1	T	C	4: 118,825,185 (GRCm39)	L335P	probably damaging	Het
Mindy4	A	G	6: 55,237,550 (GRCm39)	D375G	probably damaging	Het
Myo5a	T	C	9: 75,051,358 (GRCm39)	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,558,898 (GRCm39)	V128I	probably benign	Het
Nlrp2	C	T	7: 5,331,023 (GRCm39)	D458N	probably damaging	Het
Or1j18	A	T	2: 36,624,335 (GRCm39)	M1L	probably benign	Het
Or1o1	T	A	17: 37,717,091 (GRCm39)	C217*	probably null	Het
Or5a1	G	T	19: 12,097,300 (GRCm39)	H247N	probably damaging	Het
Or8g24	T	C	9: 38,989,988 (GRCm39)	T18A	possibly damaging	Het
Parp8	T	C	13: 117,005,072 (GRCm39)	H663R	probably damaging	Het
Pax6	T	C	2: 105,525,705 (GRCm39)	S377P	probably benign	Het
Pi15	A	G	1: 17,672,990 (GRCm39)	D63G	probably benign	Het
Plaa	A	G	4: 94,474,495 (GRCm39)		probably benign	Het
Rbm5	C	A	9: 107,622,412 (GRCm39)	W546C	probably damaging	Het
Rnf123	C	A	9: 107,929,288 (GRCm39)	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,382,551 (GRCm39)	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,788,697 (GRCm39)	S241P	possibly damaging	Het
Slfn8	G	A	11: 82,894,023 (GRCm39)	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,151,547 (GRCm39)		probably null	Het
Sox14	A	T	9: 99,757,686 (GRCm39)	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,848,969 (GRCm39)	E1053G	probably benign	Het
Syne1	T	A	10: 5,294,866 (GRCm39)	K1246*	probably null	Het
Tbrg4	A	C	11: 6,570,909 (GRCm39)	S188A	probably benign	Het
Thnsl2	A	T	6: 71,111,279 (GRCm39)	D196E	probably damaging	Het
Tmem266	C	T	9: 55,288,025 (GRCm39)	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,938,748 (GRCm39)	R111L	probably benign	Het
Tpr	T	C	1: 150,306,280 (GRCm39)		probably benign	Het
Trpc6	T	C	9: 8,643,687 (GRCm39)	S491P	probably damaging	Het
Tspan10	A	T	11: 120,336,992 (GRCm39)	N254I	probably damaging	Het
Ubox5	A	T	2: 130,433,814 (GRCm39)	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 23,754,531 (GRCm39)		probably null	Het
Vmn2r4	C	T	3: 64,298,397 (GRCm39)	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,291,606 (GRCm39)	M53K	probably benign	Het
Zfp948	T	A	17: 21,808,569 (GRCm39)	I587N	possibly damaging	Het

Other mutations in Or9q2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02377:Or9q2	APN	19	13,772,693 (GRCm39)	missense	possibly damaging	0.69
IGL02471:Or9q2	APN	19	13,772,589 (GRCm39)	missense	probably damaging	1.00
R0167:Or9q2	UTSW	19	13,772,931 (GRCm39)	missense	probably benign	0.03
R0602:Or9q2	UTSW	19	13,772,026 (GRCm39)	splice site	probably null
R1448:Or9q2	UTSW	19	13,772,140 (GRCm39)	nonsense	probably null
R2211:Or9q2	UTSW	19	13,772,733 (GRCm39)	missense	probably benign
R2295:Or9q2	UTSW	19	13,772,108 (GRCm39)	missense	probably damaging	1.00
R2340:Or9q2	UTSW	19	13,772,135 (GRCm39)	missense	probably benign	0.00
R3773:Or9q2	UTSW	19	13,772,568 (GRCm39)	missense	probably benign	0.00
R4596:Or9q2	UTSW	19	13,772,264 (GRCm39)	missense	probably damaging	1.00
R4676:Or9q2	UTSW	19	13,772,838 (GRCm39)	missense	possibly damaging	0.91
R4921:Or9q2	UTSW	19	13,772,829 (GRCm39)	missense	probably benign	0.03
R4930:Or9q2	UTSW	19	13,772,915 (GRCm39)	missense	probably benign	0.00
R5784:Or9q2	UTSW	19	13,772,710 (GRCm39)	missense	probably benign	0.00
R7402:Or9q2	UTSW	19	13,772,358 (GRCm39)	missense	probably damaging	1.00
R7473:Or9q2	UTSW	19	13,772,526 (GRCm39)	missense	probably benign	0.11
R8140:Or9q2	UTSW	19	13,772,603 (GRCm39)	missense	possibly damaging	0.91
R9112:Or9q2	UTSW	19	13,772,780 (GRCm39)	missense	probably damaging	0.98
R9359:Or9q2	UTSW	19	13,772,200 (GRCm39)	missense	probably damaging	1.00
R9375:Or9q2	UTSW	19	13,772,214 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTCTCCGAGAACTGATC -3'
(R):5'- GTCACCATCATGACTGAGAAGG -3'

Sequencing Primer
(F):5'- TCCGAGAACTGATCTGTATTATCTC -3'
(R):5'- TCATGACTGAGAAGGCCCGTG -3'

Posted On

2015-12-21