Mutagenetix > Incidental Mutation

Incidental Mutation 'R5032:Or5a1'

391793

Institutional Source

Beutler Lab

Gene Symbol

Or5a1

Ensembl Gene

ENSMUSG00000067522

Gene Name

olfactory receptor family 5 subfamily A member 1

Synonyms

GA_x6K02T2RE5P-2479601-2478648, V5, Olfr76, MOR215-3

MMRRC Submission

042623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R5032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12097085-12098038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12097420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 219 (I219F)

Ref Sequence

ENSEMBL: ENSMUSP00000154269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087822] [ENSMUST00000208391] [ENSMUST00000213471] [ENSMUST00000214103] [ENSMUST00000214676]

AlphaFold

A0A2I3BR00

Predicted Effect

probably benign
Transcript: ENSMUST00000087822
AA Change: I207F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: I207F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9.2e-54	PFAM
Pfam:7tm_1	44	293	5.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208391

Predicted Effect

probably benign
Transcript: ENSMUST00000213471
AA Change: I219F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000214103

Predicted Effect

probably benign
Transcript: ENSMUST00000214676
AA Change: I207F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216205

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Actl9	A	G	17: 33,653,062 (GRCm39)	N374S	probably benign	Het
Adam34l	T	C	8: 44,079,508 (GRCm39)	N239D	probably damaging	Het
Ahcyl2	T	A	6: 29,768,555 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,720,464 (GRCm39)	M1501T	probably benign	Het
Asb17	A	T	3: 153,550,175 (GRCm39)	D69V	probably damaging	Het
Atp13a5	T	C	16: 29,082,202 (GRCm39)	Y877C	probably damaging	Het
Atrip	T	C	9: 108,894,271 (GRCm39)	Q64R	probably benign	Het
Auts2	A	G	5: 131,505,730 (GRCm39)		probably benign	Het
Cacna2d1	G	T	5: 16,564,068 (GRCm39)	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,409,458 (GRCm39)	R596C	probably damaging	Het
Cd163	A	G	6: 124,288,628 (GRCm39)	Y353C	probably damaging	Het
Cdon	T	C	9: 35,400,330 (GRCm39)	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,312,543 (GRCm39)	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,136,744 (GRCm39)	W190R	probably benign	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Duox1	G	A	2: 122,167,798 (GRCm39)	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,593,326 (GRCm39)	Q1198*	probably null	Het
Ecel1	G	A	1: 87,081,975 (GRCm39)	S246L	probably damaging	Het
Fam228b	T	G	12: 4,813,042 (GRCm39)	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,939,159 (GRCm39)	R814G	probably damaging	Het
Gmps	A	G	3: 63,897,746 (GRCm39)	K233E	probably benign	Het
Gramd1c	A	G	16: 43,811,026 (GRCm39)	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,673,882 (GRCm39)	D134E	possibly damaging	Het
Gxylt2	A	G	6: 100,760,142 (GRCm39)	I226V	probably benign	Het
Hc	T	C	2: 34,903,544 (GRCm39)	I1037V	probably benign	Het
Hspa4	T	G	11: 53,179,950 (GRCm39)	R69S	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,829,354 (GRCm39)	S508P	probably damaging	Het
Krt7	G	A	15: 101,310,428 (GRCm39)	R25H	probably benign	Het
Lhfpl6	T	A	3: 52,950,854 (GRCm39)	S43T	possibly damaging	Het
Lrrc7	T	A	3: 157,887,217 (GRCm39)	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,566,240 (GRCm39)	L28Q	probably damaging	Het
Mdc1	A	G	17: 36,161,481 (GRCm39)	E798G	probably benign	Het
Mta1	T	A	12: 113,097,145 (GRCm39)		probably null	Het
Mtg2	A	T	2: 179,725,183 (GRCm39)	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,096,874 (GRCm39)	E382*	probably null	Het
Myo3a	T	C	2: 22,287,413 (GRCm39)	L175P	probably damaging	Het
Nckap5	A	T	1: 125,904,786 (GRCm39)	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,300,351 (GRCm39)		probably null	Het
Nmt2	C	T	2: 3,285,429 (GRCm39)	P5L	probably benign	Het
Nsmf	T	C	2: 24,945,073 (GRCm39)		probably null	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Pcdhgc3	T	A	18: 37,940,638 (GRCm39)	N346K	probably damaging	Het
Pcnt	G	A	10: 76,190,911 (GRCm39)	P2791S	probably benign	Het
Pdia3	A	G	2: 121,244,620 (GRCm39)	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,841,928 (GRCm39)	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,283,520 (GRCm39)	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,112,176 (GRCm39)	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,440,336 (GRCm39)	S845P	probably damaging	Het
Prdm2	A	T	4: 142,905,937 (GRCm39)	L50*	probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,053,140 (GRCm39)	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,925,799 (GRCm39)	N139K	probably damaging	Het
Rcn2	T	A	9: 55,960,300 (GRCm39)	M189K	probably damaging	Het
Rev1	A	T	1: 38,113,570 (GRCm39)		probably benign	Het
Rhbg	C	A	3: 88,152,441 (GRCm39)	G368C	probably damaging	Het
Rnf214	A	G	9: 45,811,042 (GRCm39)		probably null	Het
Sf3a3	T	C	4: 124,618,959 (GRCm39)	S307P	probably benign	Het
Slc6a18	T	A	13: 73,814,442 (GRCm39)	Y494F	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag16	T	G	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Tmem192	T	C	8: 65,412,163 (GRCm39)	V114A	possibly damaging	Het
Urb1	G	T	16: 90,553,059 (GRCm39)	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,419,459 (GRCm39)	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,036,162 (GRCm39)	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,356,014 (GRCm39)	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,560,842 (GRCm39)	V232E	probably damaging	Het

Other mutations in Or5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Or5a1	APN	19	12,097,240 (GRCm39)	missense	probably damaging	1.00
IGL01693:Or5a1	APN	19	12,097,921 (GRCm39)	missense	probably benign
R0360:Or5a1	UTSW	19	12,097,217 (GRCm39)	missense	possibly damaging	0.84
R0399:Or5a1	UTSW	19	12,097,734 (GRCm39)	missense	possibly damaging	0.67
R0467:Or5a1	UTSW	19	12,097,900 (GRCm39)	missense	probably benign	0.01
R0750:Or5a1	UTSW	19	12,098,077 (GRCm39)	splice site	probably null
R1432:Or5a1	UTSW	19	12,097,603 (GRCm39)	missense	possibly damaging	0.56
R1535:Or5a1	UTSW	19	12,097,696 (GRCm39)	missense	probably damaging	1.00
R4739:Or5a1	UTSW	19	12,097,234 (GRCm39)	missense	possibly damaging	0.65
R4767:Or5a1	UTSW	19	12,097,300 (GRCm39)	missense	probably damaging	1.00
R5367:Or5a1	UTSW	19	12,097,800 (GRCm39)	missense	possibly damaging	0.90
R6363:Or5a1	UTSW	19	12,097,530 (GRCm39)	missense	possibly damaging	0.60
R6426:Or5a1	UTSW	19	12,097,212 (GRCm39)	missense	probably benign	0.04
R7162:Or5a1	UTSW	19	12,097,501 (GRCm39)	missense	possibly damaging	0.60
R7224:Or5a1	UTSW	19	12,097,912 (GRCm39)	missense	probably benign	0.00
R7565:Or5a1	UTSW	19	12,097,375 (GRCm39)	missense	probably benign	0.01
R7739:Or5a1	UTSW	19	12,097,909 (GRCm39)	missense	probably damaging	1.00
R7863:Or5a1	UTSW	19	12,097,974 (GRCm39)	missense	possibly damaging	0.77
R8387:Or5a1	UTSW	19	12,097,785 (GRCm39)	missense	probably damaging	1.00
R8440:Or5a1	UTSW	19	12,097,308 (GRCm39)	missense	probably damaging	1.00
R8672:Or5a1	UTSW	19	12,097,921 (GRCm39)	missense	probably benign	0.04
R8736:Or5a1	UTSW	19	12,097,309 (GRCm39)	missense	probably damaging	1.00
R8790:Or5a1	UTSW	19	12,097,906 (GRCm39)	missense	probably damaging	1.00
R9314:Or5a1	UTSW	19	12,097,144 (GRCm39)	missense	probably benign	0.40
R9573:Or5a1	UTSW	19	12,097,509 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTCAGCATGGGAATCACCAG -3'
(R):5'- GGCATATCTTGGTGGCTTCC -3'

Sequencing Primer
(F):5'- CTCTGCTAAATGAGTAGCTGGAGC -3'
(R):5'- CTGAGTTCTTTTATTCAGGCCAG -3'

Posted On

2016-06-06