Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Or5a1'

661234

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

068527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R8672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12097085-12098038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12097921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 52 (V52M)

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: V40M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: V40M

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: V52M

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000214103

Predicted Effect

probably benign
Transcript: ENSMUST00000214676
AA Change: V40M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Aadat	A	T	8: 60,959,179 (GRCm39)		probably benign	Het
Amigo3	A	G	9: 107,931,375 (GRCm39)	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,323,146 (GRCm39)	M214K	probably damaging	Het
Atp11b	A	T	3: 35,874,066 (GRCm39)	D685V	probably benign	Het
Aunip	T	A	4: 134,250,460 (GRCm39)	M135K	probably benign	Het
Brd10	T	C	19: 29,731,564 (GRCm39)	T483A	probably benign	Het
Card9	T	C	2: 26,247,950 (GRCm39)	T134A	probably benign	Het
Cd46	G	A	1: 194,764,949 (GRCm39)	T216I	probably benign	Het
Chit1	T	C	1: 134,079,005 (GRCm39)	V360A	unknown	Het
Crcp	A	G	5: 130,071,077 (GRCm39)	R59G	probably benign	Het
Csmd1	T	A	8: 15,976,598 (GRCm39)	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,743,986 (GRCm39)	M449L	probably benign	Het
Dpp7	T	C	2: 25,246,133 (GRCm39)	D40G	probably benign	Het
Eif4g3	T	A	4: 137,853,823 (GRCm39)	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,278,524 (GRCm39)	I454V	probably benign	Het
Gbp11	T	A	5: 105,491,675 (GRCm39)	I41F	probably damaging	Het
Gkap1	G	A	13: 58,391,662 (GRCm39)	T231I	probably damaging	Het
Heatr5b	A	G	17: 79,069,632 (GRCm39)	L1705P	probably damaging	Het
Herc3	T	A	6: 58,850,786 (GRCm39)	F467I	probably damaging	Het
Ifih1	T	C	2: 62,435,993 (GRCm39)	E699G	possibly damaging	Het
Ints5	T	A	19: 8,873,370 (GRCm39)	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,276,016 (GRCm39)	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,551,230 (GRCm39)	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,518,890 (GRCm39)	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793 (GRCm39)	D5384G	probably damaging	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,784,063 (GRCm39)	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Nemp1	T	C	10: 127,512,988 (GRCm39)	S8P	probably benign	Het
Nisch	A	G	14: 30,895,093 (GRCm39)	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,579 (GRCm39)	N404D	probably damaging	Het
Nwd1	C	G	8: 73,394,007 (GRCm39)	H423Q	probably damaging	Het
Or6c66b	T	A	10: 129,376,596 (GRCm39)	N63K	probably damaging	Het
Or8j3c	T	A	2: 86,253,976 (GRCm39)	M15L	probably benign	Het
Pcdh9	T	C	14: 94,124,529 (GRCm39)	N547S	probably benign	Het
Pdha2	C	A	3: 140,917,124 (GRCm39)	R128L	probably damaging	Het
Pebp1	A	G	5: 117,421,336 (GRCm39)	Y181H	probably benign	Het
Peg3	T	G	7: 6,711,523 (GRCm39)	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,642,107 (GRCm39)	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,393,841 (GRCm39)	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,270,846 (GRCm39)	M647R	probably damaging	Het
Rp1	A	G	1: 4,419,007 (GRCm39)	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161 (GRCm39)	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,123,334 (GRCm39)	V433D	possibly damaging	Het
Spata31h1	A	T	10: 82,127,726 (GRCm39)	N1761K	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,686,559 (GRCm39)	K705N	probably damaging	Het
Thbs1	C	A	2: 117,943,719 (GRCm39)	N112K	probably benign	Het
Zfp658	T	C	7: 43,222,919 (GRCm39)	I398T	possibly 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
R5032:Or5a1	UTSW	19	12,097,420 (GRCm39)	missense	probably benign	0.00
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
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'- CCAGGAATGAGATAGTCTTTTGC -3'
(R):5'- TGTGCAGCTGTTCATGCATG -3'

Sequencing Primer
(F):5'- GAGATAGTCTTTTGCTCTCGAAAG -3'
(R):5'- CAGCTGTTCATGCATGTGTAAC -3'

Posted On

2021-03-08