Mutagenetix > Incidental Mutation

Incidental Mutation 'R0442:Or5af1'

39228

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

038643-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R0442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58721982-58722908 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 58722257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 92 (Y92*)

Ref Sequence

ENSEMBL: ENSMUSP00000149697 (fasta)

Gene Model

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

AlphaFold

Q7TRZ9

Predicted Effect

probably null
Transcript: ENSMUST00000078217
AA Change: Y92*

SMART Domains

Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: Y92*

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 null
Transcript: ENSMUST00000216407
AA Change: Y92*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.5%
10x: 93.4%
20x: 81.2%

Validation Efficiency

99% (70/71)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,435,551 (GRCm39)	N816Y	probably damaging	Het
Arfgef3	T	C	10: 18,553,563 (GRCm39)		probably benign	Het
Cd200	T	A	16: 45,217,518 (GRCm39)	S58C	probably damaging	Het
Cep128	C	T	12: 91,233,545 (GRCm39)	E508K	probably damaging	Het
Dnah2	C	A	11: 69,339,368 (GRCm39)	L3046F	probably damaging	Het
Duox2	T	C	2: 122,119,813 (GRCm39)	N872D	probably benign	Het
Fam90a1a	C	T	8: 22,453,074 (GRCm39)	T143I	probably benign	Het
Fdft1	T	C	14: 63,400,798 (GRCm39)	T112A	probably benign	Het
Gimap9	G	T	6: 48,655,000 (GRCm39)	G196*	probably null	Het
Grhl1	G	A	12: 24,662,169 (GRCm39)	R536Q	probably damaging	Het
Gtpbp3	T	A	8: 71,944,135 (GRCm39)	V293E	probably damaging	Het
Hcn3	A	T	3: 89,058,847 (GRCm39)	F251Y	probably damaging	Het
Hectd4	T	A	5: 121,462,045 (GRCm39)	C971S	possibly damaging	Het
Helz2	T	A	2: 180,874,002 (GRCm39)	D2164V	probably damaging	Het
Hif1an	T	G	19: 44,554,451 (GRCm39)	L188R	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 88,023,266 (GRCm39)	P519L	probably damaging	Het
Jakmip1	T	G	5: 37,292,897 (GRCm39)		probably null	Het
Klra1	T	C	6: 130,349,835 (GRCm39)	Y201C	probably damaging	Het
Minpp1	T	C	19: 32,471,348 (GRCm39)	F299L	possibly damaging	Het
Myb	A	G	10: 21,002,095 (GRCm39)	S749P	probably benign	Het
Myo3b	T	C	2: 70,069,305 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,581,024 (GRCm39)	R74S	probably benign	Het
Nt5m	A	G	11: 59,765,445 (GRCm39)	T158A	possibly damaging	Het
Obscn	A	T	11: 58,893,000 (GRCm39)		probably benign	Het
Or5b119	T	G	19: 13,457,412 (GRCm39)	D50A	probably damaging	Het
Or6c210	T	C	10: 129,495,693 (GRCm39)	I6T	probably benign	Het
Otogl	T	A	10: 107,712,716 (GRCm39)	T543S	probably damaging	Het
Pds5b	T	C	5: 150,640,009 (GRCm39)		probably benign	Het
Plekhm1	A	G	11: 103,288,000 (GRCm39)	M49T	possibly damaging	Het
Rabl6	A	T	2: 25,477,534 (GRCm39)	S305R	probably damaging	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rad54b	C	A	4: 11,610,362 (GRCm39)	R660S	probably benign	Het
Rexo5	T	C	7: 119,442,508 (GRCm39)	L542P	probably damaging	Het
Rp1	C	T	1: 4,416,970 (GRCm39)	D1381N	probably benign	Het
Scnn1a	T	G	6: 125,316,100 (GRCm39)	M346R	probably damaging	Het
Sirpb1c	A	G	3: 15,856,710 (GRCm39)	I380T	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sstr3	A	T	15: 78,424,597 (GRCm39)	L50Q	probably damaging	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Sun5	T	C	2: 153,712,872 (GRCm39)	D16G	possibly damaging	Het
Svil	A	T	18: 5,046,870 (GRCm39)	T39S	probably damaging	Het
Taar1	A	G	10: 23,796,380 (GRCm39)	Y26C	possibly damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Use1	T	C	8: 71,819,702 (GRCm39)		probably benign	Het
Usp54	T	C	14: 20,657,277 (GRCm39)	Y7C	probably damaging	Het
Zbtb37	A	G	1: 160,859,918 (GRCm39)	F129S	possibly damaging	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp28	T	C	7: 6,397,998 (GRCm39)	L811P	probably damaging	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly 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
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
R7344:Or5af1	UTSW	11	58,722,308 (GRCm39)	missense	probably damaging	1.00
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'- ACATCTGAGCACAATCTGAGCAGAC -3'
(R):5'- TGGAAGGCTGAGTAGATAGCTCCAC -3'

Sequencing Primer
(F):5'- AGAGTGACTCACTTCATCCTCAG -3'
(R):5'- TGAGTAGATAGCTCCACCCACC -3'

Posted On

2013-05-23