Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Or9i1b'

714785

Institutional Source

Beutler Lab

Gene Symbol

Or9i1b

Ensembl Gene

ENSMUSG00000062314

Gene Name

olfactory receptor family 9 subfamily I member 1B

Synonyms

Olfr1505, MOR211-10_i, MOR211-4P, GA_x6K02T2RE5P-4250267-4251217

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13896386-13897336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13896674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 97 (C97R)

Ref Sequence

ENSEMBL: ENSMUSP00000150484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081520] [ENSMUST00000216623] [ENSMUST00000216835]

AlphaFold

Q7TQQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081520
AA Change: C97R

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080235
Gene: ENSMUSG00000062314
AA Change: C97R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	8.2e-43	PFAM
Pfam:7tm_1	41	290	2.2e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216623
AA Change: C97R

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216835
AA Change: C97R

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,735,414 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Aox3	A	G	1: 58,189,468 (GRCm39)	I390V	probably benign	Het
Ap3b2	T	C	7: 81,123,651 (GRCm39)	N400S	probably benign	Het
Baalc	A	T	15: 38,797,419 (GRCm39)	N70I	probably benign	Het
Brca2	T	A	5: 150,464,094 (GRCm39)	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,234,470 (GRCm39)	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,185,610 (GRCm39)	S15P	probably benign	Het
Chrnb3	G	A	8: 27,883,884 (GRCm39)	W207*	probably null	Het
Cmpk2	C	T	12: 26,528,022 (GRCm39)	T413M	probably damaging	Het
Coq4	T	A	2: 29,678,562 (GRCm39)	Y63N	probably damaging	Het
Depdc5	T	A	5: 33,148,117 (GRCm39)	S1478T	probably damaging	Het
Etf1	A	G	18: 35,039,134 (GRCm39)	F378L	probably benign	Het
Exoc6	T	C	19: 37,574,341 (GRCm39)	V324A	probably benign	Het
Frem2	A	G	3: 53,560,907 (GRCm39)	L1200P	probably benign	Het
Gadl1	T	C	9: 115,794,679 (GRCm39)	W285R	probably damaging	Het
Gbp3	A	G	3: 142,270,707 (GRCm39)		probably null	Het
Gm14295	C	T	2: 176,499,165 (GRCm39)	T5I	possibly damaging	Het
Hps4	T	C	5: 112,522,875 (GRCm39)	S578P	probably benign	Het
Kctd13	T	A	7: 126,544,254 (GRCm39)	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,706,509 (GRCm39)	D881E	probably benign	Het
Klf10	G	A	15: 38,296,171 (GRCm39)	P473L	probably damaging	Het
Lrch3	A	T	16: 32,799,775 (GRCm39)	D371V	probably damaging	Het
Msh2	T	C	17: 87,985,758 (GRCm39)	S112P	possibly damaging	Het
Msh3	A	G	13: 92,352,047 (GRCm39)	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,746,484 (GRCm39)	V392A	possibly damaging	Het
Myo7a	T	C	7: 97,722,380 (GRCm39)	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,715,090 (GRCm39)	E442A	probably benign	Het
Nscme3l	T	A	19: 5,553,757 (GRCm39)	H8L	probably benign	Het
Obsl1	G	T	1: 75,474,884 (GRCm39)	H839N	probably benign	Het
Or4c105	T	C	2: 88,647,967 (GRCm39)	F151L	probably benign	Het
Pacs1	C	T	19: 5,195,098 (GRCm39)		probably null	Het
Pcdh17	G	T	14: 84,686,063 (GRCm39)	E843D	probably benign	Het
Pcnt	A	G	10: 76,228,572 (GRCm39)	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,353,129 (GRCm39)	D973G	probably damaging	Het
Pkd2	A	G	5: 104,614,800 (GRCm39)	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,164,558 (GRCm39)	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,743,482 (GRCm39)	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,618,749 (GRCm39)		probably null	Het
Ryr1	G	A	7: 28,768,068 (GRCm39)	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,533,520 (GRCm39)	K192*	probably null	Het
Slfn14	T	G	11: 83,170,198 (GRCm39)	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,327,205 (GRCm39)	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,706,314 (GRCm39)	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,120,021 (GRCm39)	S142A	possibly damaging	Het
Tdrd9	T	C	12: 111,992,007 (GRCm39)	F594S	probably damaging	Het
Uba3	T	C	6: 97,166,559 (GRCm39)	I281V	probably benign	Het
Uggt2	T	C	14: 119,286,595 (GRCm39)	E723G	probably benign	Het
Usp20	C	T	2: 30,901,024 (GRCm39)	S391F	probably damaging	Het
Usp24	T	A	4: 106,199,555 (GRCm39)	D166E	probably damaging	Het
Vmn1r1	A	G	1: 181,985,503 (GRCm39)	V54A	probably benign	Het
Zfp442	T	A	2: 150,250,668 (GRCm39)	E411D	unknown	Het
Zfp804a	T	C	2: 82,089,753 (GRCm39)	I1194T	probably damaging	Het

Other mutations in Or9i1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Or9i1b	APN	19	13,896,892 (GRCm39)	nonsense	probably null
IGL03388:Or9i1b	APN	19	13,896,984 (GRCm39)	missense	probably damaging	0.99
R0143:Or9i1b	UTSW	19	13,896,614 (GRCm39)	missense	probably damaging	1.00
R0326:Or9i1b	UTSW	19	13,896,873 (GRCm39)	missense	probably benign	0.13
R0602:Or9i1b	UTSW	19	13,897,145 (GRCm39)	missense	probably benign	0.13
R0624:Or9i1b	UTSW	19	13,896,808 (GRCm39)	missense	probably damaging	0.99
R0947:Or9i1b	UTSW	19	13,896,535 (GRCm39)	missense	probably benign	0.00
R1472:Or9i1b	UTSW	19	13,897,208 (GRCm39)	missense	probably damaging	1.00
R1691:Or9i1b	UTSW	19	13,896,783 (GRCm39)	missense	probably benign	0.00
R2991:Or9i1b	UTSW	19	13,896,675 (GRCm39)	missense	probably damaging	1.00
R4296:Or9i1b	UTSW	19	13,896,717 (GRCm39)	missense	probably damaging	1.00
R4688:Or9i1b	UTSW	19	13,896,605 (GRCm39)	missense	probably benign	0.01
R4814:Or9i1b	UTSW	19	13,896,817 (GRCm39)	missense	possibly damaging	0.50
R4823:Or9i1b	UTSW	19	13,897,022 (GRCm39)	missense	probably benign	0.02
R5038:Or9i1b	UTSW	19	13,896,822 (GRCm39)	missense	possibly damaging	0.58
R5243:Or9i1b	UTSW	19	13,897,025 (GRCm39)	missense	probably damaging	1.00
R5323:Or9i1b	UTSW	19	13,896,980 (GRCm39)	missense	possibly damaging	0.95
R5542:Or9i1b	UTSW	19	13,896,411 (GRCm39)	missense	probably benign	0.04
R5918:Or9i1b	UTSW	19	13,897,139 (GRCm39)	missense	probably damaging	1.00
R6011:Or9i1b	UTSW	19	13,896,521 (GRCm39)	missense	probably benign	0.00
R6159:Or9i1b	UTSW	19	13,897,104 (GRCm39)	missense	probably damaging	1.00
R7535:Or9i1b	UTSW	19	13,896,449 (GRCm39)	missense	probably benign
R8262:Or9i1b	UTSW	19	13,897,226 (GRCm39)	missense	probably benign	0.02
R9190:Or9i1b	UTSW	19	13,896,967 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GCTTTAATGACCACCCCAAGTG -3'
(R):5'- AGAAGGTGCATGTGGTACGC -3'

Sequencing Primer
(F):5'- TTGTCACCATGCTGGGAAAC -3'
(R):5'- TGGTACGCAGAATGGCCC -3'

Posted On

2022-06-15