Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02377:Or9q2'

291192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or9q2

Ensembl Gene

ENSMUSG00000044040

Gene Name

olfactory receptor family 9 subfamily Q member 2

Synonyms

GA_x6K02T2RE5P-4127765-4126821, Olfr1497, MOR212-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

IGL02377

Quality Score

Status

Chromosome

Chromosomal Location

13772029-13772973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 13772693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 94 (Q94P)

Ref Sequence

ENSEMBL: ENSMUSP00000149151 (fasta)

Gene Model

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

AlphaFold

Q8VG11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061993
AA Change: Q94P

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: Q94P

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

possibly damaging
Transcript: ENSMUST00000217384
AA Change: Q94P

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,937,689 (GRCm39)		probably benign	Het
Abca15	T	C	7: 119,965,133 (GRCm39)		probably benign	Het
App	T	C	16: 84,879,719 (GRCm39)	Q138R	probably benign	Het
Asah2	T	A	19: 31,986,814 (GRCm39)	I529F	probably benign	Het
Atp8b3	A	G	10: 80,356,128 (GRCm39)	S1195P	probably benign	Het
Brca1	A	G	11: 101,415,149 (GRCm39)	M134T	probably benign	Het
Cacna1s	T	C	1: 135,996,732 (GRCm39)	L111P	probably damaging	Het
Capns2	A	T	8: 93,628,215 (GRCm39)	N35Y	probably benign	Het
Ccne1	A	G	7: 37,798,415 (GRCm39)		probably null	Het
Cfap91	G	T	16: 38,153,181 (GRCm39)		probably benign	Het
Csf1r	G	T	18: 61,257,540 (GRCm39)		probably benign	Het
Dipk2b	T	A	X: 18,313,930 (GRCm39)	I131F	possibly damaging	Het
Dlg3	A	T	X: 99,817,007 (GRCm39)	Y326F	possibly damaging	Het
Dnah8	T	C	17: 31,013,770 (GRCm39)	V3837A	probably damaging	Het
Dock10	A	G	1: 80,562,711 (GRCm39)		probably null	Het
Emg1	A	G	6: 124,681,620 (GRCm39)	V208A	probably benign	Het
Eml6	T	A	11: 29,727,282 (GRCm39)	D1280V	probably damaging	Het
Ep400	T	C	5: 110,868,691 (GRCm39)	D911G	unknown	Het
Fam171a1	T	C	2: 3,224,623 (GRCm39)		probably null	Het
Fcgbp	T	C	7: 27,806,395 (GRCm39)	V2121A	possibly damaging	Het
Fggy	G	A	4: 95,511,714 (GRCm39)		probably benign	Het
Fignl1	G	T	11: 11,752,845 (GRCm39)	T70K	possibly damaging	Het
Fndc3b	T	C	3: 27,674,801 (GRCm39)	E47G	probably damaging	Het
Frmd4a	A	G	2: 4,539,385 (GRCm39)	K189E	possibly damaging	Het
Hpse	T	A	5: 100,839,199 (GRCm39)	Y383F	probably damaging	Het
Ip6k2	T	C	9: 108,681,798 (GRCm39)	L197P	probably damaging	Het
Klf1	A	C	8: 85,631,561 (GRCm39)	H375P	probably damaging	Het
Krtap6-5	T	A	16: 88,844,734 (GRCm39)		probably benign	Het
Lacc1	A	T	14: 77,267,055 (GRCm39)	S403T	probably damaging	Het
Lama3	A	G	18: 12,689,807 (GRCm39)	I2850V	possibly damaging	Het
Lats2	C	T	14: 57,929,052 (GRCm39)	R941Q	probably damaging	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrig3	A	T	10: 125,850,743 (GRCm39)	H1103L	probably benign	Het
Lrrc40	G	A	3: 157,742,365 (GRCm39)	M1I	probably null	Het
Magee2	A	T	X: 103,900,399 (GRCm39)	V84D	possibly damaging	Het
Msantd2	G	A	9: 37,434,602 (GRCm39)	V281I	possibly damaging	Het
Mycbpap	A	G	11: 94,394,076 (GRCm39)	V340A	probably damaging	Het
Myh6	A	T	14: 55,181,775 (GRCm39)	M1842K	probably benign	Het
Mylk4	T	C	13: 32,906,130 (GRCm39)	D145G	possibly damaging	Het
Nfkbid	C	T	7: 30,124,689 (GRCm39)	Q160*	probably null	Het
Or11h6	T	A	14: 50,879,975 (GRCm39)		probably null	Het
Or2y1d	A	T	11: 49,321,859 (GRCm39)	K185N	probably damaging	Het
Or5w1b	T	A	2: 87,475,630 (GRCm39)	Y279F	probably damaging	Het
Or7e168	C	T	9: 19,720,343 (GRCm39)	S243F	probably damaging	Het
Or8c11	A	T	9: 38,289,542 (GRCm39)	T122S	probably damaging	Het
Pdgfrb	A	C	18: 61,213,404 (GRCm39)	Q916P	probably damaging	Het
Pex14	T	C	4: 149,050,743 (GRCm39)	Q174R	probably benign	Het
Pogz	T	C	3: 94,786,321 (GRCm39)	S970P	probably damaging	Het
Potegl	T	C	2: 23,102,667 (GRCm39)		probably benign	Het
Rabggta	A	G	14: 55,955,952 (GRCm39)	V165A	possibly damaging	Het
Rdh10	G	A	1: 16,176,438 (GRCm39)	W66*	probably null	Het
Ripor2	T	A	13: 24,879,549 (GRCm39)		probably benign	Het
Slc35g1	T	A	19: 38,391,678 (GRCm39)	M320K	possibly damaging	Het
Slc9a7	A	G	X: 20,068,963 (GRCm39)	Y197H	probably damaging	Het
Smn1	T	C	13: 100,272,192 (GRCm39)		probably benign	Het
Spam1	G	A	6: 24,796,696 (GRCm39)	G216S	probably damaging	Het
Spata31	A	T	13: 65,068,194 (GRCm39)	N114I	probably damaging	Het
Sptbn1	A	T	11: 30,069,491 (GRCm39)	V1615D	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Thoc2	T	A	X: 40,914,355 (GRCm39)	Q1005H	possibly damaging	Het
Thra	G	A	11: 98,652,742 (GRCm39)	R189Q	probably damaging	Het
Trappc11	A	T	8: 47,983,685 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,882,934 (GRCm39)	H886Q	probably damaging	Het
Zfp157	G	A	5: 138,445,859 (GRCm39)	W71*	probably null	Het

Other mutations in Or9q2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4767:Or9q2	UTSW	19	13,772,409 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16