Mutagenetix > Incidental Mutation

Incidental Mutation 'R9375:Or9q2'

709594

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

Accession Numbers

Essential gene?

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

Stock #

R9375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13772029-13772973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13772214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 254 (T254S)

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: T254S

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

SMART Domains

Protein: ENSMUSP00000053465
Gene: ENSMUSG00000044040
AA Change: T254S

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: T254S

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

Meta Mutation Damage Score

0.4018

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (72/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,332,567 (GRCm39)	D549G	probably benign	Het
Aamdc	A	G	7: 97,199,902 (GRCm39)	V120A	probably benign	Het
Acp2	A	T	2: 91,037,174 (GRCm39)	Q251L	probably benign	Het
AI597479	C	T	1: 43,150,505 (GRCm39)	A205V	possibly damaging	Het
Apob	A	G	12: 8,029,261 (GRCm39)	T44A	possibly damaging	Het
Arhgap18	G	A	10: 26,648,610 (GRCm39)	V11M	probably damaging	Het
Arhgef10l	T	G	4: 140,319,265 (GRCm39)	H156P	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Ccn2	A	T	10: 24,473,501 (GRCm39)	M347L	possibly damaging	Het
Chd9	G	A	8: 91,725,335 (GRCm39)		probably null	Het
Clec4n	T	A	6: 123,207,662 (GRCm39)	F42L	probably benign	Het
Cngb1	T	C	8: 96,026,350 (GRCm39)	K144E	unknown	Het
Cyp4f17	A	G	17: 32,747,746 (GRCm39)	T485A	probably damaging	Het
Dcaf6	T	A	1: 165,185,052 (GRCm39)	Y480F	probably damaging	Het
Defa30	C	T	8: 21,624,686 (GRCm39)	T3I	probably damaging	Het
Dmxl1	T	A	18: 50,091,477 (GRCm39)	W2854R	probably damaging	Het
Dnah11	G	A	12: 117,884,703 (GRCm39)	T3783I	possibly damaging	Het
Dync1i1	T	A	6: 5,913,443 (GRCm39)	F225L	possibly damaging	Het
Elp6	T	A	9: 110,144,852 (GRCm39)	Y119*	probably null	Het
Enpep	A	T	3: 129,125,529 (GRCm39)	M201K	probably benign	Het
Fam161a	A	T	11: 22,970,661 (GRCm39)	R280W	probably damaging	Het
Fam98a	T	C	17: 75,848,330 (GRCm39)	N128S	possibly damaging	Het
Fpgt	A	T	3: 154,792,934 (GRCm39)	D364E	probably benign	Het
G3bp1	T	A	11: 55,390,439 (GRCm39)	M448K	probably damaging	Het
Gadd45b	T	C	10: 80,766,284 (GRCm39)	M16T	probably benign	Het
Gdi2	A	T	13: 3,614,869 (GRCm39)	I383F	probably benign	Het
H2-T13	T	C	17: 36,391,993 (GRCm39)	T27A	possibly damaging	Het
Igtp	T	G	11: 58,097,026 (GRCm39)	L66V	probably damaging	Het
Kcne4	G	A	1: 78,795,623 (GRCm39)	M90I	probably benign	Het
Lmo7	T	A	14: 102,136,123 (GRCm39)	M732K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mast4	T	G	13: 102,917,753 (GRCm39)	S552R	probably damaging	Het
Meak7	G	A	8: 120,498,096 (GRCm39)	A136V	probably benign	Het
Mff	A	T	1: 82,707,007 (GRCm39)	M11L	probably benign	Het
Mterf2	T	C	10: 84,956,327 (GRCm39)	E99G	probably damaging	Het
Myef2l	T	C	3: 10,153,791 (GRCm39)	S187P	probably benign	Het
Myom2	T	A	8: 15,149,210 (GRCm39)	N560K	probably damaging	Het
Nab2	A	G	10: 127,500,580 (GRCm39)	S171P	probably damaging	Het
Nhlrc3	T	C	3: 53,369,190 (GRCm39)	N83S	possibly damaging	Het
Nod2	A	T	8: 89,391,033 (GRCm39)	I447F	probably damaging	Het
Npat	T	A	9: 53,474,456 (GRCm39)	D749E	possibly damaging	Het
Nxph4	A	G	10: 127,362,631 (GRCm39)	S87P	probably benign	Het
Or2y1f	T	A	11: 49,184,902 (GRCm39)	Y251*	probably null	Het
Or51i2	G	T	7: 103,689,273 (GRCm39)	R90L	possibly damaging	Het
Or5d47	G	A	2: 87,804,526 (GRCm39)	T161M	possibly damaging	Het
Or6c6	T	A	10: 129,186,989 (GRCm39)	S186T	probably damaging	Het
Pcdha3	G	A	18: 37,079,353 (GRCm39)	V32I	probably benign	Het
Pcdhgc3	A	T	18: 37,939,691 (GRCm39)	T31S	probably benign	Het
Phldb3	A	G	7: 24,323,297 (GRCm39)	R391G	probably damaging	Het
Piezo1	A	G	8: 123,228,604 (GRCm39)	V257A		Het
Pip5k1b	T	A	19: 24,416,442 (GRCm39)	Q15L	probably benign	Het
Plxnc1	T	C	10: 94,649,093 (GRCm39)	N1229D	probably benign	Het
Ptpn12	A	G	5: 21,224,212 (GRCm39)	V127A	probably benign	Het
Ptprr	T	A	10: 116,109,724 (GRCm39)	V655D	probably benign	Het
Rbbp8	A	G	18: 11,838,888 (GRCm39)	T190A	probably benign	Het
Rnf17	T	A	14: 56,719,579 (GRCm39)	V943E	probably damaging	Het
Rnpc3	C	T	3: 113,404,913 (GRCm39)	G414D	probably damaging	Het
Robo4	T	A	9: 37,316,158 (GRCm39)	N387K	probably damaging	Het
Sall4	G	A	2: 168,597,781 (GRCm39)	T353M	probably damaging	Het
Serpinb13	T	C	1: 106,909,997 (GRCm39)	I38T	probably damaging	Het
Sgsm1	A	T	5: 113,422,139 (GRCm39)	I218N	unknown	Het
Sntg2	T	A	12: 30,293,343 (GRCm39)		probably null	Het
Taf1c	G	A	8: 120,325,393 (GRCm39)	S823F	probably damaging	Het
Timd6	T	A	11: 46,468,246 (GRCm39)	C107S	probably damaging	Het
Trhde	T	G	10: 114,244,598 (GRCm39)	I963L	probably damaging	Het
Trim43b	T	C	9: 88,967,619 (GRCm39)	Y339C	probably damaging	Het
Trp53	T	A	11: 69,480,537 (GRCm39)		probably null	Het
Tubg2	T	C	11: 101,051,621 (GRCm39)	V282A	probably benign	Het
Ube2g1	C	T	11: 72,553,943 (GRCm39)		probably benign	Het
Usp34	C	A	11: 23,437,203 (GRCm39)	A3341E		Het
Vmn2r12	T	A	5: 109,233,986 (GRCm39)	H742L	probably damaging	Het
Vmn2r24	T	C	6: 123,792,542 (GRCm39)	V623A	probably damaging	Het
Vmn2r5	A	T	3: 64,411,316 (GRCm39)	D417E	probably damaging	Het
Vmn2r-ps158	C	T	7: 42,673,499 (GRCm39)	P193S	possibly damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zfp2	T	C	11: 50,791,042 (GRCm39)	S334G	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TAACTAGGGTGCCCTGGAAATC -3'
(R):5'- CCCATTGTTAAAACTCGTATGTGG -3'

Sequencing Primer
(F):5'- GTGCCCTGGAAATCTTTGATC -3'
(R):5'- ACTCGTATGTGGGGACAGCTAC -3'

Posted On

2022-04-18