Mutagenetix > Incidental Mutation

Incidental Mutation 'R7693:Or5m5'

593480

Institutional Source

Beutler Lab

Gene Symbol

Or5m5

Ensembl Gene

ENSMUSG00000044923

Gene Name

olfactory receptor family 5 subfamily M member 5

Synonyms

MOR196-2, Olfr1030, GA_x6K02T2Q125-47462755-47463693

MMRRC Submission

045708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85809656-85815142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85814979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 265 (Y265F)

Ref Sequence

ENSEMBL: ENSMUSP00000053309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056849]

AlphaFold

Q8VFL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000056849
AA Change: Y265F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
AA Change: Y265F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.4e-58	PFAM
Pfam:7tm_1	47	296	3.2e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,827,968 (GRCm39)	S63I	probably damaging	Het
Adcy10	A	G	1: 165,398,340 (GRCm39)	E1479G	probably benign	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Anapc1	A	G	2: 128,483,457 (GRCm39)	S1213P	possibly damaging	Het
Aoc3	C	A	11: 101,223,338 (GRCm39)	H525N	probably benign	Het
Arhgap33	A	T	7: 30,225,537 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,763,222 (GRCm39)	E826G	probably benign	Het
Art2a	A	T	7: 101,204,056 (GRCm39)	*161R	probably null	Het
Azi2	A	T	9: 117,876,661 (GRCm39)	N59I	probably damaging	Het
Cdhr5	T	C	7: 140,851,691 (GRCm39)	T538A	probably benign	Het
Cilk1	A	G	9: 78,065,008 (GRCm39)	D306G	probably benign	Het
Csnk2b	C	A	17: 35,336,972 (GRCm39)	G123C	probably null	Het
Dnaaf10	T	C	11: 17,162,064 (GRCm39)	V34A	probably benign	Het
Dnaja2	G	T	8: 86,266,939 (GRCm39)	P306Q	probably damaging	Het
Dusp19	A	G	2: 80,447,905 (GRCm39)	T60A	probably benign	Het
Epm2aip1	G	A	9: 111,101,443 (GRCm39)	G139S	probably benign	Het
Fer1l4	A	G	2: 155,862,351 (GRCm39)	F1774S	possibly damaging	Het
Fxyd3	T	A	7: 30,770,598 (GRCm39)	R66S	probably benign	Het
Gjd2	T	C	2: 113,842,309 (GRCm39)	N56S	probably damaging	Het
Gmcl1	A	G	6: 86,691,239 (GRCm39)	I252T	probably benign	Het
Gnl1	T	C	17: 36,299,112 (GRCm39)	C517R	probably damaging	Het
Grin1	T	A	2: 25,208,679 (GRCm39)	M74L	possibly damaging	Het
Hinfp	A	G	9: 44,209,642 (GRCm39)	M244T	probably damaging	Het
Iqca1l	T	C	5: 24,751,626 (GRCm39)	I541V	probably benign	Het
Kcnma1	T	A	14: 23,417,680 (GRCm39)	I850F	probably damaging	Het
Kif13a	G	T	13: 46,904,089 (GRCm39)	T1748N	probably benign	Het
Lama1	C	T	17: 68,124,026 (GRCm39)	A2817V		Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Neb	C	T	2: 52,189,581 (GRCm39)	A770T	probably damaging	Het
Noc2l	T	A	4: 156,324,764 (GRCm39)	H280Q	probably damaging	Het
Ntrk1	T	C	3: 87,695,733 (GRCm39)	D205G	probably benign	Het
Or7a37	A	T	10: 78,806,137 (GRCm39)	Y218F	probably damaging	Het
Parp9	A	G	16: 35,777,282 (GRCm39)	S409G	possibly damaging	Het
Pcnx2	G	A	8: 126,613,864 (GRCm39)	T529I	probably benign	Het
Popdc3	A	G	10: 45,191,227 (GRCm39)	S113G	probably benign	Het
Rbm8a	T	C	3: 96,537,624 (GRCm39)	I25T	probably damaging	Het
Rfc4	A	G	16: 22,946,163 (GRCm39)	W40R	probably damaging	Het
Rp1	T	C	1: 4,417,626 (GRCm39)	D1162G	probably damaging	Het
Slc14a2	G	A	18: 78,197,218 (GRCm39)	A846V	possibly damaging	Het
Spx	A	G	6: 142,360,516 (GRCm39)	D56G	probably damaging	Het
Tanc2	T	A	11: 105,814,293 (GRCm39)	N1912K	probably damaging	Het
Tmcc1	T	C	6: 116,001,843 (GRCm39)	I559V		Het
Tnfaip3	A	G	10: 18,880,528 (GRCm39)	V513A	probably benign	Het
Ucp3	T	C	7: 100,131,799 (GRCm39)	F217L	probably benign	Het
Zc3h11a	A	T	1: 133,573,475 (GRCm39)	M55K	probably damaging	Het
Zfp316	G	A	5: 143,249,167 (GRCm39)	T156I	unknown	Het

Other mutations in Or5m5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Or5m5	APN	2	85,815,014 (GRCm39)	missense	probably damaging	0.99
IGL01795:Or5m5	APN	2	85,814,478 (GRCm39)	missense	probably damaging	1.00
IGL02395:Or5m5	APN	2	85,814,426 (GRCm39)	missense	possibly damaging	0.76
IGL03277:Or5m5	APN	2	85,814,517 (GRCm39)	missense	probably damaging	0.99
PIT4468001:Or5m5	UTSW	2	85,814,792 (GRCm39)	missense	probably benign	0.10
R0458:Or5m5	UTSW	2	85,814,600 (GRCm39)	missense	probably benign	0.00
R1114:Or5m5	UTSW	2	85,814,651 (GRCm39)	missense	probably benign
R1642:Or5m5	UTSW	2	85,814,201 (GRCm39)	missense	probably benign	0.00
R2189:Or5m5	UTSW	2	85,814,412 (GRCm39)	missense	probably damaging	1.00
R4094:Or5m5	UTSW	2	85,814,562 (GRCm39)	missense	probably damaging	1.00
R4246:Or5m5	UTSW	2	85,814,624 (GRCm39)	missense	possibly damaging	0.90
R4677:Or5m5	UTSW	2	85,814,315 (GRCm39)	missense	possibly damaging	0.61
R5537:Or5m5	UTSW	2	85,814,570 (GRCm39)	missense	possibly damaging	0.83
R6018:Or5m5	UTSW	2	85,815,148 (GRCm39)	utr 3 prime	probably benign
R6531:Or5m5	UTSW	2	85,814,651 (GRCm39)	missense	probably benign
R7367:Or5m5	UTSW	2	85,814,687 (GRCm39)	missense	possibly damaging	0.68
R7611:Or5m5	UTSW	2	85,814,407 (GRCm39)	nonsense	probably null
R7753:Or5m5	UTSW	2	85,815,060 (GRCm39)	missense	possibly damaging	0.75
R8940:Or5m5	UTSW	2	85,814,543 (GRCm39)	missense	probably benign
R8961:Or5m5	UTSW	2	85,814,610 (GRCm39)	missense	probably damaging	1.00
R9049:Or5m5	UTSW	2	85,814,235 (GRCm39)	missense	possibly damaging	0.49
R9202:Or5m5	UTSW	2	85,814,801 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAACCACTTCTACTGCGCTG -3'
(R):5'- CAGGATGGTTTTACTTTGAAAGCAC -3'

Sequencing Primer
(F):5'- CTGCTCTGACACATTCATTAAGG -3'
(R):5'- TGAAAGCACATTTCTTCTGACCAGC -3'

Posted On

2019-11-12