Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Or5af1'

435468

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

043114-MU

Accession Numbers

Essential gene?

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

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58721982-58722908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58722813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 278 (V278I)

Ref Sequence

ENSEMBL: ENSMUSP00000149697 (fasta)

Gene Model

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

AlphaFold

Q7TRZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000078217
AA Change: V278I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: V278I

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 benign
Transcript: ENSMUST00000216407
AA Change: V278I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0737

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	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
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'- CATTGTGGCCACAGTTCTTCG -3'
(R):5'- TCTGGCATGCTCTGGTACTG -3'

Sequencing Primer
(F):5'- TTCGCATCCCCTCAGTAGAAGG -3'
(R):5'- TTATGAGCAATGTCAAGGGTCCC -3'

Posted On

2016-10-24