Mutagenetix > Incidental Mutation

Incidental Mutation 'R4094:Or5m5'

317776

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

041628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4094 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85809656-85815142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85814562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 126 (Y126C)

Ref Sequence

ENSEMBL: ENSMUSP00000053309 (fasta)

Gene Model

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

AlphaFold

Q8VFL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000056849
AA Change: Y126C

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

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
AA Change: Y126C

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,071,192 (GRCm39)	C1500R	probably damaging	Het
Amz1	A	T	5: 140,737,921 (GRCm39)	M93L	probably damaging	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Bsn	A	C	9: 107,991,069 (GRCm39)	V1561G	probably damaging	Het
Cadm2	A	T	16: 66,679,685 (GRCm39)	N49K	probably damaging	Het
Cct8	T	G	16: 87,284,516 (GRCm39)	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,031,037 (GRCm39)	M121V	probably benign	Het
Cpne4	A	G	9: 104,563,734 (GRCm39)	D37G	probably damaging	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
Dhx35	T	A	2: 158,684,276 (GRCm39)	I517N	probably damaging	Het
Ehf	T	C	2: 103,121,095 (GRCm39)		probably benign	Het
Erp29	A	G	5: 121,590,345 (GRCm39)		probably benign	Het
Fgd6	C	A	10: 93,879,296 (GRCm39)	P50Q	probably damaging	Het
Fhip1b	T	C	7: 105,037,425 (GRCm39)	D386G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,615,843 (GRCm39)	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,287,242 (GRCm39)	I355N	probably damaging	Het
Hgs	T	A	11: 120,359,859 (GRCm39)	L21*	probably null	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Itga2	T	C	13: 115,007,161 (GRCm39)	D389G	probably benign	Het
Kdm1b	T	C	13: 47,216,496 (GRCm39)	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,229,915 (GRCm39)	D237E	probably benign	Het
Lilrb4b	A	T	10: 51,357,506 (GRCm39)	E114V	probably damaging	Het
Loxl1	G	A	9: 58,219,739 (GRCm39)	T144I	probably damaging	Het
Macf1	C	T	4: 123,353,062 (GRCm39)	R1784Q	probably benign	Het
Maml2	G	A	9: 13,531,449 (GRCm39)	S221N	probably benign	Het
Map3k1	A	G	13: 111,892,696 (GRCm39)	M853T	possibly damaging	Het
Micu3	T	G	8: 40,788,929 (GRCm39)	S147A	probably null	Het
Nccrp1	T	C	7: 28,243,651 (GRCm39)	Y261C	possibly damaging	Het
Or51aa5	T	A	7: 103,167,244 (GRCm39)	I116F	possibly damaging	Het
Or8k18	T	C	2: 86,085,674 (GRCm39)	D121G	probably damaging	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Pclo	C	A	5: 14,905,659 (GRCm39)	T4963N	unknown	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Plcg1	A	G	2: 160,589,761 (GRCm39)	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,647,406 (GRCm39)	N276S	possibly damaging	Het
Prr12	A	G	7: 44,697,371 (GRCm39)	L848P	unknown	Het
Ptcd2	A	G	13: 99,468,957 (GRCm39)	I202T	probably damaging	Het
Rab27a	A	C	9: 72,982,826 (GRCm39)	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,016,925 (GRCm39)	S82T	probably damaging	Het
Rsbn1	T	A	3: 103,835,974 (GRCm39)	F337L	probably damaging	Het
Samd8	T	C	14: 21,843,113 (GRCm39)	I414T	probably damaging	Het
Sema3e	A	G	5: 14,283,704 (GRCm39)	I478V	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,712,527 (GRCm39)	I239N	probably benign	Het
Spc25	G	A	2: 69,032,975 (GRCm39)	S50L	probably damaging	Het
St8sia4	A	T	1: 95,555,411 (GRCm39)	S206R	possibly damaging	Het
Syngr3	G	A	17: 24,908,817 (GRCm39)		probably benign	Het
Tigd4	A	G	3: 84,501,947 (GRCm39)	D288G	probably damaging	Het
Trim34b	A	G	7: 103,983,795 (GRCm39)	M251V	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ttn	T	C	2: 76,730,860 (GRCm39)		probably benign	Het
Vmp1	A	G	11: 86,534,406 (GRCm39)	I167T	probably benign	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,135,185 (GRCm39)	N197I	probably damaging	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
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
R7693:Or5m5	UTSW	2	85,814,979 (GRCm39)	missense	probably damaging	1.00
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'- GTTGATCAGGATAGATTCCCGC -3'
(R):5'- TCAGCGCAGTAGAAGTGGTTG -3'

Sequencing Primer
(F):5'- GGATAGATTCCCGCCTGCATAC -3'
(R):5'- GTTGATGATATTGGAGCCACAG -3'

Posted On

2015-05-15