Mutagenetix > Incidental Mutation

Incidental Mutation 'R5323:Or9i1b'

405000

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

042906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R5323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13896386-13897336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13896980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 199 (I199F)

Ref Sequence

ENSEMBL: ENSMUSP00000148945 (fasta)

Gene Model

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

AlphaFold

Q7TQQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081520
AA Change: I199F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080235
Gene: ENSMUSG00000062314
AA Change: I199F

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: I199F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216835
AA Change: I199F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	A	7: 82,206,269 (GRCm39)	C784S	probably damaging	Het
Ahnak2	A	T	12: 112,745,989 (GRCm39)		probably benign	Het
Apon	A	G	10: 128,090,907 (GRCm39)	E195G	probably damaging	Het
Atxn10	A	G	15: 85,275,944 (GRCm39)	I334V	probably benign	Het
Camsap1	G	T	2: 25,855,823 (GRCm39)	A145E	probably damaging	Het
Capns1	G	T	7: 29,887,147 (GRCm39)	F243L	possibly damaging	Het
Catsper2	A	T	2: 121,237,216 (GRCm39)	I228N	probably damaging	Het
Ceacam14	A	T	7: 17,549,402 (GRCm39)	*264C	probably null	Het
Cel	A	C	2: 28,450,530 (GRCm39)	V165G	probably damaging	Het
Cldnd1	T	A	16: 58,550,016 (GRCm39)	D66E	possibly damaging	Het
Cntnap5b	T	A	1: 100,311,275 (GRCm39)	C589*	probably null	Het
Dnah3	T	A	7: 119,620,234 (GRCm39)	H1554L	probably damaging	Het
Fbxw25	T	A	9: 109,492,573 (GRCm39)	M55L	probably benign	Het
Fn1	T	C	1: 71,636,591 (GRCm39)	H2187R	probably benign	Het
Fsip2	A	G	2: 82,818,489 (GRCm39)	T4741A	possibly damaging	Het
Gabpa	T	A	16: 84,653,934 (GRCm39)	I272N	possibly damaging	Het
Ganab	T	C	19: 8,886,049 (GRCm39)	S212P	probably benign	Het
Ggt1	A	G	10: 75,421,495 (GRCm39)		probably null	Het
Hpgds	T	C	6: 65,109,169 (GRCm39)	T81A	probably benign	Het
Insr	G	A	8: 3,252,902 (GRCm39)	T419I	probably benign	Het
Itgb7	A	G	15: 102,140,059 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,799,289 (GRCm39)	I951V	possibly damaging	Het
Lrrc4c	T	A	2: 97,460,498 (GRCm39)	C375S	probably damaging	Het
Muc17	G	T	5: 137,175,537 (GRCm39)	C44*	probably null	Het
Mycbpap	A	T	11: 94,394,330 (GRCm39)	D313E	probably benign	Het
Neo1	A	G	9: 58,813,931 (GRCm39)		probably null	Het
Ntsr2	C	T	12: 16,709,934 (GRCm39)	S405F	probably benign	Het
Nup153	G	A	13: 46,870,682 (GRCm39)	P21S	probably benign	Het
Obscn	T	A	11: 58,887,703 (GRCm39)	E7705D	probably benign	Het
Ogn	A	G	13: 49,762,817 (GRCm39)	D53G	probably benign	Het
Or10d5j	A	T	9: 39,868,125 (GRCm39)	Y35*	probably null	Het
Or14j10	A	T	17: 37,935,046 (GRCm39)	I160K	probably benign	Het
Or5k8	G	A	16: 58,645,066 (GRCm39)	T2I	probably benign	Het
Or5p5	T	C	7: 107,413,883 (GRCm39)	F33L	possibly damaging	Het
Pde6a	G	A	18: 61,365,983 (GRCm39)	R236H	possibly damaging	Het
Pigk	T	A	3: 152,443,837 (GRCm39)	M85K	probably damaging	Het
Pirb	A	C	7: 3,719,598 (GRCm39)	I516S	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Pum2	T	A	12: 8,794,706 (GRCm39)	I737N	probably damaging	Het
Recql5	A	T	11: 115,818,215 (GRCm39)	C159S	probably damaging	Het
Rxrg	A	G	1: 167,452,573 (GRCm39)	N125S	probably benign	Het
Sgip1	C	A	4: 102,823,477 (GRCm39)	N699K	probably damaging	Het
Shprh	G	A	10: 11,046,041 (GRCm39)		probably null	Het
Smcp	C	T	3: 92,491,454 (GRCm39)	G131D	unknown	Het
St8sia6	A	G	2: 13,798,188 (GRCm39)	L23P	possibly damaging	Het
Stk32c	T	A	7: 138,699,276 (GRCm39)	T335S	probably benign	Het
Stox1	G	A	10: 62,499,812 (GRCm39)	A916V	possibly damaging	Het
Syk	A	T	13: 52,785,753 (GRCm39)	T297S	probably benign	Het
Tert	G	T	13: 73,796,490 (GRCm39)	A1074S	probably benign	Het
Tex9	A	T	9: 72,385,187 (GRCm39)	D135E	probably damaging	Het
Tmem132a	G	A	19: 10,841,371 (GRCm39)	H318Y	possibly damaging	Het
Ttn	A	G	2: 76,738,249 (GRCm39)	S4097P	probably benign	Het
Ush2a	A	T	1: 188,553,874 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vsig8	A	G	1: 172,388,244 (GRCm39)	S71G	probably benign	Het
Zfp318	G	A	17: 46,697,662 (GRCm39)	D173N	probably damaging	Het
Zfp638	T	A	6: 83,939,076 (GRCm39)	S936T	probably damaging	Het
Zic2	A	G	14: 122,713,728 (GRCm39)	Y214C	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
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
R9459:Or9i1b	UTSW	19	13,896,674 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CCATGGGCCCTAGAAAATGTTG -3'
(R):5'- AGGGATTTCTTTGAACCACTACG -3'

Sequencing Primer
(F):5'- GCCCTAGAAAATGTTGGAGTTTAG -3'
(R):5'- CGTATGTACATAAAGATGAGTGTCCC -3'

Posted On

2016-07-22