Mutagenetix > Incidental Mutation

Incidental Mutation 'R5582:Or11h23'

438521

Institutional Source

Beutler Lab

Gene Symbol

Or11h23

Ensembl Gene

ENSMUSG00000060084

Gene Name

olfactory receptor family 11 subfamily G member 23

Synonyms

GA_x6K02T2PMLR-6454789-6455712, Olfr748, MOR106-9P

MMRRC Submission

043136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50947789-50948712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50948425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 213 (Y213H)

Ref Sequence

ENSEMBL: ENSMUSP00000149491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073561] [ENSMUST00000213101]

AlphaFold

E9Q9Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000073561
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073251
Gene: ENSMUSG00000060084
AA Change: Y213H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.6e-52	PFAM
Pfam:7tm_1	41	290	2.8e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213101
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.2553

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (61/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,586,639 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,399,245 (GRCm39)	D444G	probably damaging	Het
Aldh1b1	G	T	4: 45,802,750 (GRCm39)	R96L	probably damaging	Het
Ank2	T	C	3: 126,739,954 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,788 (GRCm39)	Y3090C	probably damaging	Het
Bbx	A	G	16: 50,043,719 (GRCm39)	S647P	probably damaging	Het
Brinp2	T	C	1: 158,076,979 (GRCm39)	Y372C	probably damaging	Het
Btaf1	T	C	19: 36,965,573 (GRCm39)		probably null	Het
Cdk5rap1	T	A	2: 154,187,894 (GRCm39)	E477D	probably benign	Het
Cfap65	G	A	1: 74,946,677 (GRCm39)		probably benign	Het
Chdh	A	G	14: 29,758,816 (GRCm39)	Y587C	probably damaging	Het
Chek2	T	C	5: 111,015,901 (GRCm39)	V472A	probably damaging	Het
Clasrp	A	C	7: 19,320,781 (GRCm39)	I326S	probably damaging	Het
Clic6	A	T	16: 92,296,342 (GRCm39)	Q334L	possibly damaging	Het
Cyp2d11	A	T	15: 82,276,319 (GRCm39)		probably null	Het
Entpd7	T	C	19: 43,693,433 (GRCm39)	I171T	probably damaging	Het
Fosl1	T	C	19: 5,505,295 (GRCm39)		probably benign	Het
Gm6124	A	G	7: 38,869,622 (GRCm39)		noncoding transcript	Het
H3f3a	A	T	1: 180,637,650 (GRCm39)		probably benign	Het
Hs1bp3	AGAGGAGGAGGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGGAGGAGGAGG	12: 8,374,048 (GRCm39)		probably benign	Het
Idh2	CCAGGGC	CC	7: 79,748,087 (GRCm39)		probably null	Het
Igkv3-7	A	G	6: 70,584,990 (GRCm39)	Y110C	probably damaging	Het
Ints9	C	T	14: 65,266,345 (GRCm39)	T399M	possibly damaging	Het
Kctd19	G	A	8: 106,135,075 (GRCm39)	T62M	probably damaging	Het
Lsmem1	A	G	12: 40,230,643 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,990,802 (GRCm39)		probably null	Het
Or1j12	T	C	2: 36,343,233 (GRCm39)	I212T	probably benign	Het
Otop3	T	A	11: 115,230,165 (GRCm39)	M14K	unknown	Het
Pibf1	C	T	14: 99,374,566 (GRCm39)	A335V	possibly damaging	Het
Pkd1l2	A	T	8: 117,767,522 (GRCm39)	L1256*	probably null	Het
Plbd2	T	C	5: 120,631,171 (GRCm39)	E202G	probably benign	Het
Ppp1r37	A	G	7: 19,266,219 (GRCm39)	S516P	probably damaging	Het
Ppt2	G	A	17: 34,836,373 (GRCm39)	T229M	probably damaging	Het
Prr14	A	T	7: 127,075,569 (GRCm39)	I526F	probably damaging	Het
Scel	T	C	14: 103,820,575 (GRCm39)		probably benign	Het
Scn9a	A	T	2: 66,395,373 (GRCm39)		probably benign	Het
Senp6	T	A	9: 79,997,158 (GRCm39)	D57E	possibly damaging	Het
Setd5	T	C	6: 113,091,886 (GRCm39)	Y217H	probably damaging	Het
Sgcg	T	C	14: 61,462,754 (GRCm39)	T198A	probably damaging	Het
Sipa1	C	T	19: 5,704,729 (GRCm39)	G622D	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Slitrk3	G	T	3: 72,957,737 (GRCm39)	P345Q	probably benign	Het
Slx4	T	C	16: 3,803,652 (GRCm39)	D1054G	possibly damaging	Het
Sned1	A	T	1: 93,210,083 (GRCm39)	T898S	probably damaging	Het
Tg	C	T	15: 66,565,284 (GRCm39)	P1209S	probably damaging	Het
Tmem63b	C	A	17: 45,978,689 (GRCm39)	V294L	probably benign	Het
Tnks	G	A	8: 35,408,015 (GRCm39)	R238C	probably benign	Het
Tsn	G	A	1: 118,232,944 (GRCm39)	T120I	probably damaging	Het
Txnrd1	T	A	10: 82,731,814 (GRCm39)	F479I	possibly damaging	Het
Ubr1	T	C	2: 120,745,888 (GRCm39)	M849V	probably benign	Het
Usp13	T	C	3: 32,965,738 (GRCm39)	S574P	probably damaging	Het
Vmn1r69	A	G	7: 10,314,435 (GRCm39)	Y20H	probably damaging	Het
Zfp1001	T	C	2: 150,204,972 (GRCm39)		probably benign	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het

Other mutations in Or11h23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Or11h23	APN	14	50,948,450 (GRCm39)	missense	possibly damaging	0.95
IGL02965:Or11h23	APN	14	50,948,653 (GRCm39)	missense	probably damaging	1.00
R0576:Or11h23	UTSW	14	50,948,661 (GRCm39)	missense	probably damaging	0.98
R1184:Or11h23	UTSW	14	50,948,071 (GRCm39)	missense	probably benign	0.01
R2129:Or11h23	UTSW	14	50,948,093 (GRCm39)	missense	probably damaging	0.99
R2895:Or11h23	UTSW	14	50,947,973 (GRCm39)	missense	probably damaging	0.99
R2896:Or11h23	UTSW	14	50,947,973 (GRCm39)	missense	probably damaging	0.99
R4017:Or11h23	UTSW	14	50,948,333 (GRCm39)	missense	probably benign	0.03
R5053:Or11h23	UTSW	14	50,947,968 (GRCm39)	nonsense	probably null
R5057:Or11h23	UTSW	14	50,948,669 (GRCm39)	missense	probably damaging	1.00
R5113:Or11h23	UTSW	14	50,948,371 (GRCm39)	missense	probably benign	0.00
R5294:Or11h23	UTSW	14	50,948,236 (GRCm39)	missense	probably benign	0.01
R5294:Or11h23	UTSW	14	50,947,900 (GRCm39)	missense	possibly damaging	0.95
R5499:Or11h23	UTSW	14	50,948,324 (GRCm39)	missense	probably damaging	1.00
R5727:Or11h23	UTSW	14	50,947,817 (GRCm39)	missense	possibly damaging	0.74
R6797:Or11h23	UTSW	14	50,948,563 (GRCm39)	missense	probably damaging	1.00
R7685:Or11h23	UTSW	14	50,948,215 (GRCm39)	missense	possibly damaging	0.95
R7717:Or11h23	UTSW	14	50,948,219 (GRCm39)	missense	probably damaging	1.00
R7778:Or11h23	UTSW	14	50,947,928 (GRCm39)	missense	possibly damaging	0.60
R8276:Or11h23	UTSW	14	50,948,287 (GRCm39)	missense	probably benign	0.28
R8839:Or11h23	UTSW	14	50,947,957 (GRCm39)	missense	possibly damaging	0.73
R9322:Or11h23	UTSW	14	50,948,507 (GRCm39)	missense	probably damaging	1.00
R9358:Or11h23	UTSW	14	50,947,802 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGATCATTGGTTTCTCTGCAC -3'
(R):5'- AAGCTGGTGTCACCACAGAG -3'

Sequencing Primer
(F):5'- GATCATTGGTTTCTCTGCACATTTG -3'
(R):5'- GCTGGTGTCACCACAGAGTATATC -3'

Posted On

2016-10-26