Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Or5h23'

172818

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

039668-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58905915-58906844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58906408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 146 (T146I)

Ref Sequence

ENSEMBL: ENSMUSP00000150473 (fasta)

Gene Model

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

AlphaFold

L7N1Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000078517
AA Change: T146I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077604
Gene: ENSMUSG00000094539
AA Change: T146I

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: T146I

Predicted Effect

probably benign
Transcript: ENSMUST00000215647
AA Change: T146I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,756,316 (GRCm39)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Als2	T	C	1: 59,257,226 (GRCm39)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,997,157 (GRCm39)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,906,395 (GRCm39)		probably null	Het
Avil	A	G	10: 126,846,494 (GRCm39)		probably null	Het
C2cd3	G	A	7: 100,021,704 (GRCm39)		probably null	Het
Cdhr18	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Col18a1	G	A	10: 76,895,131 (GRCm39)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,462,213 (GRCm39)	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,923 (GRCm39)	E138G	probably damaging	Het
Ctsm	T	C	13: 61,686,249 (GRCm39)	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,174,578 (GRCm39)	Q967R	possibly damaging	Het
Dok2	T	C	14: 71,014,393 (GRCm39)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,554,592 (GRCm39)	M1I	probably null	Het
Fkbp8	T	A	8: 70,984,282 (GRCm39)	L210Q	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,868,505 (GRCm39)	D243E	probably damaging	Het
Gm5422	A	G	10: 31,125,802 (GRCm39)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm39)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,529,393 (GRCm39)	V79G	probably damaging	Het
Htr6	A	T	4: 138,788,804 (GRCm39)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,188,755 (GRCm39)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,443,102 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,081,788 (GRCm39)	F182L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama3	A	G	18: 12,540,551 (GRCm39)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,034,680 (GRCm39)	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,509,373 (GRCm39)		probably null	Het
Magi3	T	C	3: 103,958,493 (GRCm39)	T531A	probably benign	Het
Mapre2	A	G	18: 23,966,011 (GRCm39)	Y32C	probably damaging	Het
Med1	C	T	11: 98,046,452 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nt5el	C	A	13: 105,218,749 (GRCm39)	Q28K	probably benign	Het
Or10a3b	A	C	7: 108,445,064 (GRCm39)	L51R	probably damaging	Het
Or51h1	A	G	7: 102,308,408 (GRCm39)	I127V	probably damaging	Het
Or7a35	A	T	10: 78,853,239 (GRCm39)	I28L	probably benign	Het
Pde1b	A	G	15: 103,430,099 (GRCm39)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,593,121 (GRCm39)	D1664G	probably benign	Het
Plod3	C	T	5: 137,017,847 (GRCm39)	R208W	probably damaging	Het
Pstk	G	A	7: 130,986,271 (GRCm39)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,411,684 (GRCm39)	V403A	probably damaging	Het
Rad21	C	A	15: 51,833,436 (GRCm39)	V348F	probably damaging	Het
Sacs	T	A	14: 61,448,181 (GRCm39)	L3409*	probably null	Het
Setd4	T	A	16: 93,390,136 (GRCm39)	K98*	probably null	Het
Skint5	A	G	4: 113,341,123 (GRCm39)	V1385A	probably benign	Het
Stam	C	A	2: 14,151,059 (GRCm39)	S472*	probably null	Het
Stx2	A	G	5: 129,069,289 (GRCm39)	F141L	probably damaging	Het
Tia1	A	G	6: 86,397,330 (GRCm39)	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,783,228 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,410,651 (GRCm39)	N2700K	probably damaging	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
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
R6049:Or5h23	UTSW	16	58,906,509 (GRCm39)	nonsense	probably null
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'- TGCAGGGCGCACATACATGAAG -3'
(R):5'- TGGGCAACCTTGGTCTGATCATTC -3'

Sequencing Primer
(F):5'- TTGTGAAGACCTGAATTGAGCC -3'
(R):5'- TGGTTATCATCCACAGTGACAC -3'

Posted On

2014-04-24