Mutagenetix > Incidental Mutation

Incidental Mutation 'R1491:Or9a2'

163735

Institutional Source

Beutler Lab

Gene Symbol

Or9a2

Ensembl Gene

ENSMUSG00000045479

Gene Name

olfactory receptor family 9 subfamily A member 2

Synonyms

GA_x6K02T2P3E9-5780974-5781915, Olfr459, MOR120-1

MMRRC Submission

039543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R1491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41748287-41749231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41748456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 259 (Y259C)

Ref Sequence

ENSEMBL: ENSMUSP00000149928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050412] [ENSMUST00000214752] [ENSMUST00000214976]

AlphaFold

Q924H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050412
AA Change: Y259C

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061622
Gene: ENSMUSG00000045479
AA Change: Y259C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	7.9e-46	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1.7e-6	PFAM
Pfam:7tm_1	40	290	6.2e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203430
AA Change: Y259C

SMART Domains

Protein: ENSMUSP00000145036
Gene: ENSMUSG00000045479
AA Change: Y259C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	7.9e-46	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1.7e-6	PFAM
Pfam:7tm_1	40	290	6.2e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214752
AA Change: Y259C

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214976
AA Change: Y259C

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	T	A	12: 112,381,489 (GRCm39)		noncoding transcript	Het
Acss3	A	G	10: 106,773,169 (GRCm39)	S606P	probably benign	Het
Adamts13	C	T	2: 26,868,327 (GRCm39)	T146M	probably damaging	Het
Adora2b	G	A	11: 62,156,363 (GRCm39)	V271M	probably benign	Het
Agpat5	A	G	8: 18,896,739 (GRCm39)	Y55C	probably damaging	Het
AI987944	A	C	7: 41,023,772 (GRCm39)	Y402*	probably null	Het
Angptl4	C	T	17: 34,000,165 (GRCm39)	A68T	possibly damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Arfgap2	A	G	2: 91,105,204 (GRCm39)	K423E	probably damaging	Het
Arfgef3	A	T	10: 18,522,302 (GRCm39)	S575T	probably damaging	Het
Arhgap24	A	G	5: 103,008,198 (GRCm39)	I40V	possibly damaging	Het
Arhgef7	T	C	8: 11,869,733 (GRCm39)		probably null	Het
Arid1a	C	A	4: 133,448,237 (GRCm39)	S477I	unknown	Het
Armc7	T	C	11: 115,367,029 (GRCm39)	V58A	probably damaging	Het
Arrdc5	A	T	17: 56,601,222 (GRCm39)	I301N	probably damaging	Het
Capn15	G	A	17: 26,183,453 (GRCm39)	P343S	probably damaging	Het
Catspere2	C	T	1: 177,843,495 (GRCm39)	T69I	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cgn	C	T	3: 94,670,535 (GRCm39)	R1002Q	probably damaging	Het
Clstn3	A	T	6: 124,414,449 (GRCm39)	I759N	possibly damaging	Het
Cops5	A	G	1: 10,104,243 (GRCm39)	V166A	possibly damaging	Het
Cramp1	G	T	17: 25,191,323 (GRCm39)	T1046K	probably benign	Het
Cthrc1	T	G	15: 38,950,072 (GRCm39)	V143G	probably damaging	Het
Cul9	G	A	17: 46,849,490 (GRCm39)	Q552*	probably null	Het
Cyp27b1	A	T	10: 126,886,957 (GRCm39)	D391V	probably damaging	Het
Dcun1d2	A	G	8: 13,331,040 (GRCm39)	L30S	probably damaging	Het
Dsc3	T	C	18: 20,120,091 (GRCm39)	E189G	probably damaging	Het
Dst	T	G	1: 34,193,675 (GRCm39)	S295A	probably damaging	Het
Dusp22	A	G	13: 30,892,798 (GRCm39)	T192A	probably benign	Het
Esp24	A	T	17: 39,349,176 (GRCm39)	M1L	probably null	Het
Evc2	G	A	5: 37,550,541 (GRCm39)		probably null	Het
Fgd6	A	G	10: 93,880,694 (GRCm39)	N516S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Fut8	T	A	12: 77,495,448 (GRCm39)	I346K	possibly damaging	Het
Gata3	A	C	2: 9,882,201 (GRCm39)	V32G	probably damaging	Het
Glrb	A	T	3: 80,819,282 (GRCm39)	C39S	possibly damaging	Het
Gpr171	A	G	3: 59,005,016 (GRCm39)	V253A	probably benign	Het
Hdac5	A	G	11: 102,092,079 (GRCm39)	V670A	probably benign	Het
Hmgxb3	T	C	18: 61,266,980 (GRCm39)	S1085G	probably benign	Het
Hspa4l	A	G	3: 40,741,226 (GRCm39)	N746S	probably benign	Het
Hyal5	A	G	6: 24,877,902 (GRCm39)	T333A	probably benign	Het
Ippk	T	C	13: 49,615,069 (GRCm39)	V484A	probably benign	Het
Jmjd8	A	T	17: 26,048,266 (GRCm39)	T33S	possibly damaging	Het
Kctd19	T	A	8: 106,113,694 (GRCm39)	I660L	possibly damaging	Het
Lrat	A	G	3: 82,810,649 (GRCm39)	V124A	probably benign	Het
Madcam1	A	G	10: 79,502,358 (GRCm39)	I281V	probably benign	Het
Mast2	T	A	4: 116,173,688 (GRCm39)	I455F	possibly damaging	Het
Mroh7	A	G	4: 106,560,255 (GRCm39)	L683P	probably benign	Het
Myo15b	C	A	11: 115,777,683 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,416,849 (GRCm39)	E814G	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or13a20	T	G	7: 140,232,650 (GRCm39)	Y253D	probably damaging	Het
P2ry13	T	C	3: 59,116,939 (GRCm39)	K280E	probably damaging	Het
Paqr8	C	A	1: 21,005,048 (GRCm39)	F67L	probably benign	Het
Pfkfb3	G	T	2: 11,498,747 (GRCm39)	R37S	probably damaging	Het
Phf14	A	G	6: 11,941,478 (GRCm39)	D310G	possibly damaging	Het
Phkb	A	G	8: 86,602,286 (GRCm39)	S26G	possibly damaging	Het
Pkd1l2	T	A	8: 117,755,147 (GRCm39)	I1684F	probably damaging	Het
Plod2	T	C	9: 92,488,637 (GRCm39)	V621A	probably benign	Het
Plvap	T	C	8: 71,964,116 (GRCm39)	N82S	probably damaging	Het
Pomgnt2	A	G	9: 121,811,326 (GRCm39)	V485A	probably damaging	Het
Psmd9	A	G	5: 123,366,410 (GRCm39)	E14G	probably benign	Het
Pwwp2b	A	G	7: 138,835,879 (GRCm39)	E440G	probably damaging	Het
Rasgrp1	G	A	2: 117,113,100 (GRCm39)	Q771*	probably null	Het
Rft1	C	T	14: 30,388,744 (GRCm39)	Q223*	probably null	Het
Rgs22	C	A	15: 36,093,047 (GRCm39)	V409F	probably damaging	Het
Rgsl1	G	A	1: 153,701,672 (GRCm39)	P261S	possibly damaging	Het
Rpl7a	A	G	2: 26,801,127 (GRCm39)	N38S	probably damaging	Het
Sh3rf2	T	A	18: 42,187,004 (GRCm39)	F41Y	probably damaging	Het
Spata6	T	A	4: 111,603,388 (GRCm39)	S34R	probably damaging	Het
Sult2a3	A	T	7: 13,856,867 (GRCm39)	Y18N	probably benign	Het
Tapt1	A	G	5: 44,375,444 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,394,466 (GRCm39)	C615S	possibly damaging	Het
Trim43b	T	C	9: 88,969,665 (GRCm39)	K261R	possibly damaging	Het
Unc5c	T	A	3: 141,495,583 (GRCm39)	M484K	probably damaging	Het
Vezf1	T	A	11: 87,964,573 (GRCm39)	S242T	probably damaging	Het
Vmn2r1	A	G	3: 63,997,034 (GRCm39)	Y230C	probably damaging	Het
Vmn2r94	A	G	17: 18,477,965 (GRCm39)	S149P	probably damaging	Het
Wfdc1	T	A	8: 120,393,405 (GRCm39)		probably null	Het
Zfp975	T	C	7: 42,312,236 (GRCm39)	T126A	probably benign	Het
Zmym4	T	C	4: 126,776,105 (GRCm39)		probably null	Het

Other mutations in Or9a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Or9a2	APN	6	41,749,047 (GRCm39)	missense	probably damaging	1.00
IGL01460:Or9a2	APN	6	41,749,216 (GRCm39)	missense	probably benign	0.12
IGL02465:Or9a2	APN	6	41,748,490 (GRCm39)	missense	probably damaging	1.00
R0352:Or9a2	UTSW	6	41,749,058 (GRCm39)	missense	probably damaging	0.99
R0443:Or9a2	UTSW	6	41,748,829 (GRCm39)	missense	possibly damaging	0.75
R0480:Or9a2	UTSW	6	41,749,198 (GRCm39)	missense	probably benign	0.01
R1495:Or9a2	UTSW	6	41,748,837 (GRCm39)	missense	probably damaging	1.00
R2103:Or9a2	UTSW	6	41,748,939 (GRCm39)	missense	probably benign	0.36
R3688:Or9a2	UTSW	6	41,749,160 (GRCm39)	nonsense	probably null
R3910:Or9a2	UTSW	6	41,749,083 (GRCm39)	missense	probably benign	0.00
R4709:Or9a2	UTSW	6	41,748,442 (GRCm39)	missense	probably benign	0.06
R4710:Or9a2	UTSW	6	41,748,442 (GRCm39)	missense	probably benign	0.06
R4960:Or9a2	UTSW	6	41,749,003 (GRCm39)	missense	probably damaging	0.97
R5162:Or9a2	UTSW	6	41,748,706 (GRCm39)	missense	possibly damaging	0.80
R5236:Or9a2	UTSW	6	41,749,045 (GRCm39)	missense	probably benign	0.00
R5441:Or9a2	UTSW	6	41,748,782 (GRCm39)	missense	probably benign	0.00
R7171:Or9a2	UTSW	6	41,748,961 (GRCm39)	missense	probably benign	0.09
R7400:Or9a2	UTSW	6	41,748,678 (GRCm39)	missense	probably damaging	1.00
R8115:Or9a2	UTSW	6	41,748,472 (GRCm39)	missense	probably benign	0.00
R8346:Or9a2	UTSW	6	41,749,057 (GRCm39)	missense	probably damaging	1.00
R8363:Or9a2	UTSW	6	41,748,684 (GRCm39)	missense	probably benign	0.06
R9573:Or9a2	UTSW	6	41,748,940 (GRCm39)	missense	probably benign	0.00
R9700:Or9a2	UTSW	6	41,749,076 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTAATCCCTGAGGAGCAGAC -3'
(R):5'- ACCGGGGCCAATTGCTCAAATTATC -3'

Sequencing Primer
(F):5'- GAGCAGACAGCAACGCTTC -3'
(R):5'- GAAACCTTTCTCACAGAGTTCATTC -3'

Posted On

2014-03-28