Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02475:Or9i1'

294903

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or9i1

Ensembl Gene

ENSMUSG00000056858

Gene Name

olfactory receptor family 9 subfamily I member 1

Synonyms

GA_x6K02T2RE5P-4193992-4194942, Olfr1502, MOR211-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

13839159-13840109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13839663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 169 (C169S)

Ref Sequence

ENSEMBL: ENSMUSP00000073843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074221]

AlphaFold

Q8VG66

Predicted Effect

probably damaging
Transcript: ENSMUST00000074221
AA Change: C169S

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

SMART Domains

Protein: ENSMUSP00000073843
Gene: ENSMUSG00000056858
AA Change: C169S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	7.1e-43	PFAM
Pfam:7tm_1	41	290	1.6e-17	PFAM

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,119,343 (GRCm39)		probably benign	Het
5730409E04Rik	A	G	4: 126,505,742 (GRCm39)	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849 (GRCm38)	I27N	probably damaging	Het
Akap6	A	T	12: 53,186,277 (GRCm39)	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,646,317 (GRCm39)	V31A	possibly damaging	Het
Cep350	G	A	1: 155,738,341 (GRCm39)	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,297,072 (GRCm39)		probably null	Het
Crcp	T	C	5: 130,088,699 (GRCm39)		probably benign	Het
Creb5	G	A	6: 53,670,909 (GRCm39)	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,296 (GRCm39)	D38G	probably benign	Het
Fam171a1	A	G	2: 3,224,527 (GRCm39)	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,748,561 (GRCm39)	V396A	possibly damaging	Het
Gm10340	G	A	14: 14,832,274 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,544,310 (GRCm39)	T344A	probably benign	Het
Itga7	T	C	10: 128,769,958 (GRCm39)	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936 (GRCm39)		probably benign	Het
Neb	G	T	2: 52,182,831 (GRCm39)	N1038K	probably damaging	Het
Nf1	T	C	11: 79,426,493 (GRCm39)	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,406,872 (GRCm39)	T632K	possibly damaging	Het
Nme1nme2	A	G	11: 93,846,400 (GRCm39)	V16A	probably damaging	Het
Nts	A	G	10: 102,326,108 (GRCm39)		probably benign	Het
Olfml2b	A	G	1: 170,509,743 (GRCm39)	D697G	probably damaging	Het
Or5ac23	A	T	16: 59,149,088 (GRCm39)	H261Q	probably benign	Het
Or5m8	T	C	2: 85,822,376 (GRCm39)	F72L	probably benign	Het
Otof	T	C	5: 30,534,026 (GRCm39)	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Rnaseh2b	T	A	14: 62,584,064 (GRCm39)	F37I	probably damaging	Het
Rtn4	T	A	11: 29,683,801 (GRCm39)	I1031N	probably damaging	Het
Rxfp2	A	G	5: 149,987,151 (GRCm39)	E344G	probably benign	Het
Scel	A	G	14: 103,774,444 (GRCm39)	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,621,055 (GRCm39)	E39G	probably benign	Het
Slc6a12	T	A	6: 121,331,334 (GRCm39)		probably null	Het
Snapc3	C	A	4: 83,368,333 (GRCm39)	H277N	probably benign	Het
Susd2	A	G	10: 75,473,333 (GRCm39)		probably null	Het
Tagap1	T	C	17: 7,223,826 (GRCm39)	Q290R	probably benign	Het
Tenm3	A	T	8: 48,732,233 (GRCm39)		probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 84,889,721 (GRCm39)	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,777,131 (GRCm39)	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,141,667 (GRCm39)	V17M	probably benign	Het
Trip11	T	A	12: 101,861,942 (GRCm39)	T208S	probably benign	Het
Ttc17	C	A	2: 94,194,721 (GRCm39)	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,471,302 (GRCm39)	W222R	probably damaging	Het
Xkr8	A	T	4: 132,455,512 (GRCm39)	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,926,066 (GRCm39)	G354C	probably null	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het

Other mutations in Or9i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or9i1	APN	19	13,839,150 (GRCm39)	unclassified	probably benign
IGL01061:Or9i1	APN	19	13,840,069 (GRCm39)	missense	possibly damaging	0.94
IGL01534:Or9i1	APN	19	13,839,283 (GRCm39)	missense	probably damaging	1.00
IGL02017:Or9i1	APN	19	13,839,595 (GRCm39)	missense	possibly damaging	0.58
IGL02039:Or9i1	APN	19	13,840,083 (GRCm39)	nonsense	probably null
IGL02173:Or9i1	APN	19	13,839,378 (GRCm39)	missense	probably benign	0.00
IGL02219:Or9i1	APN	19	13,839,187 (GRCm39)	missense	probably damaging	1.00
IGL02604:Or9i1	APN	19	13,839,170 (GRCm39)	missense	probably benign	0.01
R0012:Or9i1	UTSW	19	13,839,187 (GRCm39)	missense	probably damaging	0.98
R0594:Or9i1	UTSW	19	13,839,643 (GRCm39)	missense	probably benign	0.04
R2184:Or9i1	UTSW	19	13,839,399 (GRCm39)	missense	probably benign	0.02
R2518:Or9i1	UTSW	19	13,839,673 (GRCm39)	missense	probably damaging	1.00
R5541:Or9i1	UTSW	19	13,839,328 (GRCm39)	missense	probably benign
R5587:Or9i1	UTSW	19	13,839,940 (GRCm39)	missense	probably damaging	1.00
R6211:Or9i1	UTSW	19	13,839,938 (GRCm39)	missense	probably benign	0.01
R6351:Or9i1	UTSW	19	13,839,186 (GRCm39)	missense	probably benign	0.04
R7575:Or9i1	UTSW	19	13,839,381 (GRCm39)	missense	probably damaging	1.00
R8425:Or9i1	UTSW	19	13,839,849 (GRCm39)	missense	probably benign	0.00
R9545:Or9i1	UTSW	19	13,839,217 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16