Mutagenetix > Incidental Mutation

Incidental Mutation 'R6049:Or5h23'

483475

Institutional Source

Beutler Lab

Gene Symbol

Or5h23

Ensembl Gene

ENSMUSG00000094539

Gene Name

olfactory receptor family 5 subfamily H member 23

Synonyms

Olfr191, MOR183-5P, GA_x54KRFPKG5P-55314632-55313703

MMRRC Submission

044217-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58905915-58906844 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58906509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 112 (C112*)

Ref Sequence

ENSEMBL: ENSMUSP00000150473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078517] [ENSMUST00000205471] [ENSMUST00000215647]

AlphaFold

L7N1Z8

Predicted Effect

probably null
Transcript: ENSMUST00000078517
AA Change: C112*

SMART Domains

Protein: ENSMUSP00000077604
Gene: ENSMUSG00000094539
AA Change: C112*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4e-47	PFAM
Pfam:7tm_1	41	290	6.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205471
AA Change: C112*

Predicted Effect

probably null
Transcript: ENSMUST00000215647
AA Change: C112*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,088,520 (GRCm39)	H229Y	probably benign	Het
Aadacl2fm2	A	C	3: 59,659,570 (GRCm39)	D341A	probably damaging	Het
Abcd2	A	G	15: 91,062,439 (GRCm39)	F500L	probably benign	Het
Adgb	A	G	10: 10,253,770 (GRCm39)	L1190P	probably damaging	Het
Adgrv1	A	G	13: 81,545,473 (GRCm39)	V5604A	probably benign	Het
Ank2	T	A	3: 126,736,669 (GRCm39)	T3072S	possibly damaging	Het
Arhgap39	A	G	15: 76,611,601 (GRCm39)		probably null	Het
C6	T	C	15: 4,764,654 (GRCm39)	C117R	probably damaging	Het
Cacna1a	A	G	8: 85,365,475 (GRCm39)	E2206G	probably damaging	Het
Cd2bp2	A	T	7: 126,793,007 (GRCm39)	F338L	probably damaging	Het
Cemip2	A	T	19: 21,803,490 (GRCm39)	Q841L	probably benign	Het
Cngb1	T	C	8: 95,997,470 (GRCm39)	D575G	probably damaging	Het
Cplane2	T	A	4: 140,945,473 (GRCm39)	V108D	probably benign	Het
Crat	A	G	2: 30,293,553 (GRCm39)	F63S	probably damaging	Het
Crybg3	T	C	16: 59,364,417 (GRCm39)	T2402A	probably benign	Het
Ctsq	A	G	13: 61,186,572 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,361,564 (GRCm39)	R248G	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,961 (GRCm39)	H420R	probably benign	Het
Deup1	A	G	9: 15,472,552 (GRCm39)	F587L	possibly damaging	Het
Dnah6	T	C	6: 73,063,149 (GRCm39)	K2651R	probably benign	Het
Dnah7b	A	G	1: 46,124,762 (GRCm39)	I144V	probably benign	Het
Dnajc1	T	C	2: 18,236,511 (GRCm39)		probably null	Het
Fscb	T	C	12: 64,521,094 (GRCm39)	N124S	possibly damaging	Het
Gabbr2	A	G	4: 46,787,641 (GRCm39)	Y341H	probably damaging	Het
Greb1	T	A	12: 16,731,395 (GRCm39)	I1648F	probably damaging	Het
Hace1	A	T	10: 45,562,758 (GRCm39)	N758Y	probably damaging	Het
Irs2	A	C	8: 11,056,805 (GRCm39)	D542E	probably benign	Het
Kat6a	T	A	8: 23,429,053 (GRCm39)	H1469Q	possibly damaging	Het
Kif15	G	A	9: 122,840,687 (GRCm39)	R36K	probably damaging	Het
Krt42	C	T	11: 100,157,886 (GRCm39)	V193M	probably damaging	Het
Limch1	A	T	5: 67,188,203 (GRCm39)	E878V	probably benign	Het
Med18	G	T	4: 132,187,024 (GRCm39)	D158E	probably benign	Het
Med6	T	C	12: 81,638,097 (GRCm39)	N38S	probably damaging	Het
Mup13	T	C	4: 61,183,596 (GRCm39)	T76A	probably benign	Het
Nlrp4b	T	A	7: 10,448,640 (GRCm39)	L281*	probably null	Het
Or7g28	C	A	9: 19,272,640 (GRCm39)	G4*	probably null	Het
Or9r3	A	T	10: 129,948,481 (GRCm39)	H59Q	probably benign	Het
Pde4d	A	T	13: 109,169,119 (GRCm39)	R54*	probably null	Het
Pdpk1	A	T	17: 24,317,109 (GRCm39)	Y251*	probably null	Het
Pdzk1	A	G	3: 96,758,979 (GRCm39)	E128G	probably benign	Het
Phf12	A	G	11: 77,918,996 (GRCm39)		probably null	Het
Pnliprp2	A	G	19: 58,748,884 (GRCm39)	E63G	possibly damaging	Het
Prkcd	T	C	14: 30,329,254 (GRCm39)	E62G	possibly damaging	Het
Prl7b1	G	T	13: 27,790,161 (GRCm39)	D77E	probably benign	Het
Rbck1	G	T	2: 152,165,094 (GRCm39)	C85*	probably null	Het
Rfx3	A	T	19: 27,779,795 (GRCm39)	M481K	probably damaging	Het
Rmdn3	A	G	2: 118,983,906 (GRCm39)	F159L	probably damaging	Het
Rpusd3	A	C	6: 113,394,802 (GRCm39)		probably null	Het
Ska1	T	C	18: 74,335,671 (GRCm39)	T100A	probably benign	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc27a6	T	A	18: 58,731,732 (GRCm39)	Y361N	probably damaging	Het
Smc1b	A	G	15: 85,005,896 (GRCm39)	L336S	probably damaging	Het
St7	A	G	6: 17,694,347 (GRCm39)	D46G	possibly damaging	Het
Supt5	A	G	7: 28,014,622 (GRCm39)	I1059T	probably benign	Het
Syne1	A	T	10: 5,297,926 (GRCm39)	S1124T	possibly damaging	Het
Szt2	A	G	4: 118,260,185 (GRCm39)	S54P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tbc1d7	A	C	13: 43,312,836 (GRCm39)	M19R	probably damaging	Het
Tbpl2	T	C	2: 23,985,004 (GRCm39)	N47D	possibly damaging	Het
Tgfbr3	C	T	5: 107,266,351 (GRCm39)	A790T	probably damaging	Het
Tnr	T	C	1: 159,740,324 (GRCm39)	V1166A	probably damaging	Het
Ttn	G	A	2: 76,676,654 (GRCm39)		probably benign	Het

Other mutations in Or5h23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Or5h23	APN	16	58,906,756 (GRCm39)	missense	possibly damaging	0.86
IGL01553:Or5h23	APN	16	58,906,685 (GRCm39)	missense	probably benign	0.35
R0233:Or5h23	UTSW	16	58,906,038 (GRCm39)	missense	probably benign	0.01
R0233:Or5h23	UTSW	16	58,906,038 (GRCm39)	missense	probably benign	0.01
R1367:Or5h23	UTSW	16	58,906,706 (GRCm39)	missense	probably benign	0.00
R1631:Or5h23	UTSW	16	58,906,408 (GRCm39)	missense	probably benign
R1660:Or5h23	UTSW	16	58,906,706 (GRCm39)	missense	probably benign	0.00
R2166:Or5h23	UTSW	16	58,905,949 (GRCm39)	missense	probably benign	0.07
R2167:Or5h23	UTSW	16	58,905,949 (GRCm39)	missense	probably benign	0.07
R2168:Or5h23	UTSW	16	58,905,949 (GRCm39)	missense	probably benign	0.07
R2191:Or5h23	UTSW	16	58,906,038 (GRCm39)	missense	probably benign	0.01
R3836:Or5h23	UTSW	16	58,906,586 (GRCm39)	missense	possibly damaging	0.61
R4999:Or5h23	UTSW	16	58,906,765 (GRCm39)	missense	probably damaging	1.00
R5386:Or5h23	UTSW	16	58,906,253 (GRCm39)	missense	probably benign
R5589:Or5h23	UTSW	16	58,906,334 (GRCm39)	missense	probably benign	0.03
R5590:Or5h23	UTSW	16	58,906,360 (GRCm39)	missense	probably benign	0.06
R5609:Or5h23	UTSW	16	58,906,439 (GRCm39)	missense	possibly damaging	0.96
R5965:Or5h23	UTSW	16	58,906,666 (GRCm39)	missense	probably damaging	1.00
R5989:Or5h23	UTSW	16	58,906,697 (GRCm39)	missense	probably benign	0.00
R6058:Or5h23	UTSW	16	58,906,792 (GRCm39)	missense	probably benign
R6058:Or5h23	UTSW	16	58,906,273 (GRCm39)	missense	probably damaging	0.99
R6250:Or5h23	UTSW	16	58,906,195 (GRCm39)	missense	probably damaging	1.00
R6319:Or5h23	UTSW	16	58,906,384 (GRCm39)	missense	probably benign	0.08
R6473:Or5h23	UTSW	16	58,906,406 (GRCm39)	missense	probably benign	0.09
R6524:Or5h23	UTSW	16	58,906,640 (GRCm39)	missense	possibly damaging	0.76
R6748:Or5h23	UTSW	16	58,906,253 (GRCm39)	missense	probably benign
R6874:Or5h23	UTSW	16	58,906,312 (GRCm39)	missense	probably benign	0.02
R9303:Or5h23	UTSW	16	58,906,802 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GCATCAGGTAATTGATAGAAGGGTC -3'
(R):5'- TCATCTGGAATGACCCTCACC -3'

Sequencing Primer
(F):5'- CAGGAAATCTTTAACAGTGGCATAAC -3'
(R):5'- TGGAATGACCCTCACCTTCAC -3'

Posted On

2017-07-14