Mutagenetix > Incidental Mutation

Incidental Mutation 'R4095:Or10am5'

317850

Institutional Source

Beutler Lab

Gene Symbol

Or10am5

Ensembl Gene

ENSMUSG00000048067

Gene Name

olfactory receptor family 10 subfamily AM member 5

Synonyms

Olfr1349, MOR232-8, GA_x6K02T2QGBW-3245761-3244808

MMRRC Submission

040858-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6517198-6523354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6518252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 59 (S59C)

Ref Sequence

ENSEMBL: ENSMUSP00000146672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051982] [ENSMUST00000207043] [ENSMUST00000207075] [ENSMUST00000207820] [ENSMUST00000213504] [ENSMUST00000213656] [ENSMUST00000216447]

AlphaFold

Q7TQV1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051982
AA Change: S59C

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056639
Gene: ENSMUSG00000048067
AA Change: S59C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	317	1.9e-47	PFAM
Pfam:7tm_1	50	299	3.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122705

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207043
AA Change: S59C

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207075
AA Change: S59C

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207820
AA Change: S59C

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213504
AA Change: S59C

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213656
AA Change: S59C

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216447
AA Change: S59C

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 53,186,245 (GRCm39)	I1220L	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Apba1	A	T	19: 23,921,388 (GRCm39)	Q737L	probably benign	Het
Arvcf	T	A	16: 18,220,327 (GRCm39)	D564E	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Brd9	G	A	13: 74,092,918 (GRCm39)	V302I	probably benign	Het
Brinp3	C	A	1: 146,777,430 (GRCm39)	H626N	possibly damaging	Het
C1qc	T	C	4: 136,617,637 (GRCm39)	N153S	probably benign	Het
Casp3	G	A	8: 47,087,251 (GRCm39)	G66D	probably damaging	Het
Coq7	T	G	7: 118,126,701 (GRCm39)		probably null	Het
Dach1	C	T	14: 98,138,815 (GRCm39)	V491M	possibly damaging	Het
Dda1	A	G	8: 71,926,436 (GRCm39)	T52A	possibly damaging	Het
Entpd7	A	G	19: 43,692,640 (GRCm39)	Y65C	probably damaging	Het
Fmnl2	A	G	2: 52,991,535 (GRCm39)	D350G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Gbp2	A	G	3: 142,343,210 (GRCm39)	T576A	probably benign	Het
Gm15446	T	A	5: 110,088,590 (GRCm39)		probably null	Het
Gtf2a1	G	T	12: 91,542,411 (GRCm39)	T57K	possibly damaging	Het
Hps5	T	C	7: 46,425,218 (GRCm39)	E494G	probably benign	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Hydin	A	G	8: 111,268,179 (GRCm39)	N2886S	probably damaging	Het
Ighv2-6-8	T	C	12: 113,759,773 (GRCm39)	Y112C	probably damaging	Het
Kcnf1	A	T	12: 17,225,480 (GRCm39)	L247Q	possibly damaging	Het
Kndc1	A	G	7: 139,516,938 (GRCm39)	M1606V	possibly damaging	Het
Krt27	T	C	11: 99,236,619 (GRCm39)	T431A	probably benign	Het
Lama4	A	T	10: 38,973,118 (GRCm39)	I1562F	probably damaging	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp1b	G	A	2: 41,339,203 (GRCm39)	T880I	probably benign	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Mapt	T	C	11: 104,201,362 (GRCm39)		probably null	Het
Mpdz	A	T	4: 81,302,060 (GRCm39)	V229D	possibly damaging	Het
Or6e1	T	C	14: 54,520,188 (GRCm39)	T55A	probably benign	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Parm1	T	C	5: 91,742,039 (GRCm39)	S136P	probably benign	Het
Pcdhgb2	T	A	18: 37,824,003 (GRCm39)	S331R	probably benign	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Rell1	C	A	5: 64,126,013 (GRCm39)	V22L	probably benign	Het
Sema6c	T	A	3: 95,080,505 (GRCm39)	L901Q	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a23	A	G	13: 34,489,189 (GRCm39)	L116P	probably damaging	Het
Slit1	A	T	19: 41,596,925 (GRCm39)		probably benign	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Tmem104	T	A	11: 115,134,749 (GRCm39)	Y427*	probably null	Het
Tmem74	G	A	15: 43,730,678 (GRCm39)	Q122*	probably null	Het
Tnpo2	T	A	8: 85,765,048 (GRCm39)	L10Q	probably damaging	Het
Trav6-2	G	T	14: 52,905,272 (GRCm39)	A98S	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ube2b	A	C	11: 51,888,654 (GRCm39)	V39G	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Wnk1	G	A	6: 119,925,087 (GRCm39)	T1459I	probably damaging	Het
Zc3h7a	T	C	16: 10,963,099 (GRCm39)	K754R	probably damaging	Het
Zfp605	A	G	5: 110,275,602 (GRCm39)	K240R	probably damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het

Other mutations in Or10am5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Or10am5	APN	7	6,517,577 (GRCm39)	missense	probably damaging	1.00
IGL02350:Or10am5	APN	7	6,518,225 (GRCm39)	missense	probably damaging	1.00
IGL02357:Or10am5	APN	7	6,518,225 (GRCm39)	missense	probably damaging	1.00
IGL02955:Or10am5	APN	7	6,517,682 (GRCm39)	missense	probably damaging	1.00
R0593:Or10am5	UTSW	7	6,517,808 (GRCm39)	missense	probably benign	0.00
R2311:Or10am5	UTSW	7	6,517,741 (GRCm39)	missense	probably benign
R2396:Or10am5	UTSW	7	6,517,784 (GRCm39)	missense	probably damaging	0.98
R3699:Or10am5	UTSW	7	6,517,993 (GRCm39)	missense	probably damaging	0.99
R5009:Or10am5	UTSW	7	6,517,546 (GRCm39)	missense	probably damaging	0.99
R6818:Or10am5	UTSW	7	6,517,550 (GRCm39)	missense	probably damaging	0.99
R7248:Or10am5	UTSW	7	6,517,520 (GRCm39)	missense	probably damaging	1.00
R7697:Or10am5	UTSW	7	6,517,645 (GRCm39)	missense	probably damaging	1.00
R7848:Or10am5	UTSW	7	6,517,861 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCATGAGAAGGAAGCACTC -3'
(R):5'- ACAGTACCTGCGAATCCTGG -3'

Sequencing Primer
(F):5'- CTCAGATGTGACACAGGACAGC -3'
(R):5'- TGCGAATCCTGGGCCCATG -3'

Posted On

2015-05-15