Mutagenetix > Incidental Mutation

Incidental Mutation 'R2167:Or5h23'

235574

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

040170-MU

Accession Numbers

Essential gene?

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

Stock #

R2167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58905915-58906844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58905949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 299 (K299I)

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: K299I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077604
Gene: ENSMUSG00000094539
AA Change: K299I

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: K299I

Predicted Effect

probably benign
Transcript: ENSMUST00000215647
AA Change: K299I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (57/58)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,238,532 (GRCm39)	T710M	probably benign	Het
Acan	A	G	7: 78,749,705 (GRCm39)	E1492G	probably benign	Het
Acsl1	A	G	8: 46,986,627 (GRCm39)	D638G	possibly damaging	Het
Acsl6	C	A	11: 54,217,983 (GRCm39)	T207K	probably benign	Het
Ahnak	A	T	19: 8,988,858 (GRCm39)	K3381*	probably null	Het
Art1	T	C	7: 101,756,031 (GRCm39)	V74A	probably damaging	Het
Bhmt2	A	T	13: 93,799,012 (GRCm39)	W270R	probably benign	Het
Calm2	T	C	17: 87,742,573 (GRCm39)	T118A	probably benign	Het
Ccdc88b	G	T	19: 6,831,452 (GRCm39)	Q497K	possibly damaging	Het
Ccne2	A	T	4: 11,197,249 (GRCm39)	M183L	probably benign	Het
Cdc42bpg	A	G	19: 6,367,707 (GRCm39)	I1026V	probably damaging	Het
Celsr2	T	C	3: 108,320,509 (GRCm39)	T768A	probably damaging	Het
Cog5	T	C	12: 31,887,288 (GRCm39)	F470L	probably damaging	Het
Cpne5	T	C	17: 29,381,306 (GRCm39)	D374G	probably damaging	Het
Disp2	A	C	2: 118,622,166 (GRCm39)	E966A	probably damaging	Het
Dmrtc2	C	T	7: 24,573,344 (GRCm39)		probably benign	Het
Eif2b3	T	A	4: 116,885,737 (GRCm39)	I93N	probably damaging	Het
Elfn2	C	A	15: 78,556,646 (GRCm39)	V634L	probably benign	Het
Fasl	T	G	1: 161,614,707 (GRCm39)	S119R	probably benign	Het
Foxp2	C	G	6: 15,437,901 (GRCm39)	P701A	probably damaging	Het
Helz	T	A	11: 107,563,790 (GRCm39)		probably benign	Het
Kctd6	T	C	14: 8,222,683 (GRCm38)	V175A	probably benign	Het
Leo1	A	G	9: 75,352,991 (GRCm39)	N178S	probably benign	Het
Lhx6	C	A	2: 35,993,371 (GRCm39)	R80L	probably damaging	Het
Man1a2	A	G	3: 100,499,216 (GRCm39)	L406P	probably damaging	Het
Mapkap1	T	C	2: 34,487,494 (GRCm39)	F231L	probably damaging	Het
Mknk2	A	G	10: 80,504,535 (GRCm39)	Y256H	probably damaging	Het
Msh6	A	G	17: 88,296,911 (GRCm39)	T1203A	probably damaging	Het
Nbeal2	T	C	9: 110,467,376 (GRCm39)	Y604C	probably damaging	Het
Ncam1	G	T	9: 49,479,781 (GRCm39)	Q66K	probably benign	Het
Nsd2	T	A	5: 34,040,263 (GRCm39)	H933Q	probably damaging	Het
Or10h5	T	A	17: 33,434,542 (GRCm39)	I262F	probably damaging	Het
Or13p3	T	C	4: 118,567,252 (GRCm39)	V216A	probably benign	Het
Or2d3c	A	G	7: 106,525,797 (GRCm39)	Y290H	probably damaging	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rassf6	C	T	5: 90,751,797 (GRCm39)	E308K	probably damaging	Het
Rb1	T	C	14: 73,449,091 (GRCm39)	T680A	probably damaging	Het
Rfpl4	T	A	7: 5,113,852 (GRCm39)	I104F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnase6	A	C	14: 51,367,974 (GRCm39)	D122A	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,531,792 (GRCm39)	T39I	possibly damaging	Het
Slc12a1	A	G	2: 125,015,601 (GRCm39)	I385V	probably damaging	Het
Slc6a17	A	T	3: 107,398,817 (GRCm39)	Y261*	probably null	Het
Supt6	G	A	11: 78,098,993 (GRCm39)	P1626L	possibly damaging	Het
Tbx15	A	G	3: 99,233,771 (GRCm39)		probably benign	Het
Telo2	A	G	17: 25,329,792 (GRCm39)	V240A	probably benign	Het
Trhr	C	T	15: 44,092,638 (GRCm39)	L292F	probably damaging	Het
Trps1	G	A	15: 50,695,126 (GRCm39)	L340F	possibly damaging	Het
Ube2e1	T	C	14: 18,284,429 (GRCm38)		probably benign	Het
Yeats2	T	C	16: 20,032,151 (GRCm39)		probably benign	Het
Zbtb39	G	A	10: 127,578,844 (GRCm39)	E473K	probably benign	Het
Zfp235	T	A	7: 23,840,387 (GRCm39)	S269T	possibly damaging	Het
Zfp580	C	A	7: 5,056,063 (GRCm39)	P141Q	possibly 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
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
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'- AGAGGATTACTGTGGTTAGCAG -3'
(R):5'- GAAAGCCTTTTCCACCTGTG -3'

Sequencing Primer
(F):5'- GCGATTATGCAAGACATTTGACCTCC -3'
(R):5'- ACCTGTGGAGCCCATCTC -3'

Posted On

2014-10-01