Mutagenetix > Incidental Mutation

Incidental Mutation 'R7344:Or5af1'

570103

Institutional Source

Beutler Lab

Gene Symbol

Or5af1

Ensembl Gene

ENSMUSG00000096806

Gene Name

olfactory receptor family 5 subfamily AF member 1

Synonyms

Olfr312, GA_x6K02T2NKPP-575829-574903, MOR222-4P

MMRRC Submission

045434-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R7344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58721982-58722908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58722308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 109 (E109D)

Ref Sequence

ENSEMBL: ENSMUSP00000149697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078217] [ENSMUST00000216407]

AlphaFold

Q7TRZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000078217
AA Change: E109D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: E109D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.5e-53	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1.9e-8	PFAM
Pfam:7tm_1	39	288	4.7e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216407
AA Change: E109D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	C	11: 58,182,273 (GRCm39)	Y216S		Het
Anpep	G	T	7: 79,488,398 (GRCm39)	S477R	possibly damaging	Het
Atp7b	T	C	8: 22,487,515 (GRCm39)	D1293G	probably damaging	Het
Caprin2	A	G	6: 148,774,565 (GRCm39)	V249A	probably benign	Het
Cep41	C	T	6: 30,693,655 (GRCm39)	R5K	probably benign	Het
Cyp2c23	A	T	19: 44,010,176 (GRCm39)		probably null	Het
Dazap2	T	A	15: 100,514,824 (GRCm39)	V15E	possibly damaging	Het
Ecpas	A	T	4: 58,824,770 (GRCm39)	D1070E	probably benign	Het
Epha8	T	A	4: 136,661,849 (GRCm39)	H582L	probably benign	Het
Fam193a	A	G	5: 34,643,074 (GRCm39)	T1513A	possibly damaging	Het
Fancd2	T	C	6: 113,545,670 (GRCm39)	V901A	probably benign	Het
Fbl	T	A	7: 27,878,360 (GRCm39)	V284E	probably damaging	Het
Fbln2	A	G	6: 91,246,955 (GRCm39)	E1065G	probably damaging	Het
Fbxw16	A	G	9: 109,278,103 (GRCm39)	V25A	probably benign	Het
Fcgbpl1	C	T	7: 27,852,185 (GRCm39)	T1236I	possibly damaging	Het
Fcgbpl1	T	C	7: 27,839,704 (GRCm39)	S506P	possibly damaging	Het
Gm11562	T	G	11: 99,511,195 (GRCm39)	T2P	unknown	Het
Gm17728	G	T	17: 9,640,955 (GRCm39)	G22W	probably damaging	Het
Gm30083	A	G	14: 33,721,537 (GRCm39)	Y190H	probably benign	Het
Gm6793	T	A	8: 112,741,561 (GRCm39)	D27V	probably damaging	Het
Gm7324	A	G	14: 43,952,134 (GRCm39)	D259G	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Ildr2	T	A	1: 166,122,166 (GRCm39)	V203E	probably damaging	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Irx5	A	G	8: 93,086,183 (GRCm39)	T89A	probably benign	Het
Itga7	A	G	10: 128,776,798 (GRCm39)	N221S	possibly damaging	Het
Lpcat2	T	C	8: 93,602,195 (GRCm39)	W259R	probably damaging	Het
Lrrc8e	C	T	8: 4,284,815 (GRCm39)	R347C	probably damaging	Het
Lyst	T	A	13: 13,881,140 (GRCm39)	D2790E	probably benign	Het
Magi2	G	A	5: 20,755,238 (GRCm39)	R604Q	probably benign	Het
Mertk	C	A	2: 128,613,417 (GRCm39)	H478N	probably benign	Het
Mical3	T	A	6: 121,013,505 (GRCm39)	K293*	probably null	Het
Nod2	T	C	8: 89,387,210 (GRCm39)	L168P	probably damaging	Het
Npnt	T	C	3: 132,614,100 (GRCm39)		probably null	Het
Or1x6	T	G	11: 50,939,122 (GRCm39)	F63V	probably damaging	Het
Or8b37	T	C	9: 37,959,253 (GRCm39)	M245T	probably benign	Het
Or9g4	A	T	2: 85,505,275 (GRCm39)	Y73*	probably null	Het
Plcd4	A	T	1: 74,593,811 (GRCm39)	D312V	probably damaging	Het
Prss58	A	G	6: 40,872,399 (GRCm39)	I208T	probably damaging	Het
Pus7l	A	G	15: 94,438,498 (GRCm39)	S116P	probably benign	Het
Rcc1l	A	T	5: 134,205,276 (GRCm39)	I93N	probably benign	Het
Rftn2	A	C	1: 55,265,311 (GRCm39)	Y36*	probably null	Het
Rp1l1	G	A	14: 64,267,069 (GRCm39)	R885Q	probably benign	Het
Rpgrip1	A	T	14: 52,378,116 (GRCm39)	D488V	probably damaging	Het
Sacs	A	G	14: 61,444,893 (GRCm39)	Y2313C	possibly damaging	Het
Scrib	T	C	15: 75,921,107 (GRCm39)	Y1332C	probably damaging	Het
Serpinb10	T	C	1: 107,468,672 (GRCm39)	V105A	probably damaging	Het
Slc35d1	A	T	4: 103,070,243 (GRCm39)		probably null	Het
Slfn3	T	C	11: 83,103,648 (GRCm39)	V173A	probably benign	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Stard9	A	T	2: 120,535,167 (GRCm39)	D3808V	possibly damaging	Het
Supt16	A	T	14: 52,411,028 (GRCm39)	V692D	probably damaging	Het
Tapt1	A	T	5: 44,345,999 (GRCm39)	V317E	probably damaging	Het
Vmn2r101	T	C	17: 19,832,059 (GRCm39)	I685T	probably benign	Het
Vmn2r92	A	G	17: 18,387,513 (GRCm39)	I173V	probably benign	Het
Vps54	T	C	11: 21,224,999 (GRCm39)	I165T	probably damaging	Het
Zswim4	G	A	8: 84,950,327 (GRCm39)	R628*	probably null	Het
Zzz3	T	C	3: 152,157,736 (GRCm39)	S770P	probably damaging	Het

Other mutations in Or5af1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01897:Or5af1	APN	11	58,722,465 (GRCm39)	missense	probably damaging	1.00
R0442:Or5af1	UTSW	11	58,722,257 (GRCm39)	nonsense	probably null
R0540:Or5af1	UTSW	11	58,722,798 (GRCm39)	missense	probably damaging	0.96
R0607:Or5af1	UTSW	11	58,722,798 (GRCm39)	missense	probably damaging	0.96
R2366:Or5af1	UTSW	11	58,722,039 (GRCm39)	missense	probably benign	0.00
R3437:Or5af1	UTSW	11	58,722,150 (GRCm39)	missense	probably damaging	1.00
R4135:Or5af1	UTSW	11	58,722,820 (GRCm39)	missense	probably damaging	1.00
R4391:Or5af1	UTSW	11	58,722,841 (GRCm39)	missense	possibly damaging	0.81
R5557:Or5af1	UTSW	11	58,722,813 (GRCm39)	missense	probably benign	0.01
R5564:Or5af1	UTSW	11	58,722,039 (GRCm39)	nonsense	probably null
R5854:Or5af1	UTSW	11	58,722,382 (GRCm39)	missense	probably damaging	0.99
R6791:Or5af1	UTSW	11	58,722,903 (GRCm39)	missense	probably benign
R7336:Or5af1	UTSW	11	58,722,750 (GRCm39)	missense	probably damaging	0.99
R7397:Or5af1	UTSW	11	58,722,115 (GRCm39)	missense	probably benign	0.05
R8471:Or5af1	UTSW	11	58,722,597 (GRCm39)	missense	probably benign	0.10
R8731:Or5af1	UTSW	11	58,722,268 (GRCm39)	missense	probably benign	0.00
R9009:Or5af1	UTSW	11	58,722,280 (GRCm39)	missense	probably benign	0.02
R9237:Or5af1	UTSW	11	58,722,057 (GRCm39)	missense	possibly damaging	0.75
R9492:Or5af1	UTSW	11	58,722,610 (GRCm39)	missense	probably benign
R9760:Or5af1	UTSW	11	58,722,852 (GRCm39)	missense	probably damaging	0.99
X0067:Or5af1	UTSW	11	58,722,814 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAAGAGACAGTCGACTCC -3'
(R):5'- ACTGGTGGCATGTCACAGAAG -3'

Sequencing Primer
(F):5'- GAGACAGTCGACTCCACTCTC -3'
(R):5'- GTGATCAATAACATTGGGTCCACAG -3'

Posted On

2019-09-13