Mutagenetix > Incidental Mutation

Incidental Mutation 'R5564:Or5af1'

436755

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

043121-MU

Accession Numbers

Essential gene?

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

Stock #

R5564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58721982-58722908 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 58722039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 20 (Q20*)

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: Q20*

SMART Domains

Protein: ENSMUSP00000077344
Gene: ENSMUSG00000096806
AA Change: Q20*

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: Q20*

Meta Mutation Damage Score

0.9454

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,659,513 (GRCm39)	V322A	probably benign	Het
Abca8b	G	T	11: 109,825,407 (GRCm39)	L1598M	probably benign	Het
Adam4	T	C	12: 81,466,348 (GRCm39)	T758A	probably benign	Het
B3galnt2	T	C	13: 14,169,814 (GRCm39)	I424T	probably damaging	Het
Cacna1g	T	C	11: 94,321,312 (GRCm39)	Y1316C	probably damaging	Het
Cacna2d1	T	C	5: 16,517,517 (GRCm39)	S388P	probably damaging	Het
Ccdc157	A	G	11: 4,098,765 (GRCm39)	L247S	probably damaging	Het
Cdh8	A	G	8: 99,757,498 (GRCm39)	I700T	possibly damaging	Het
Cdhr3	G	T	12: 33,098,985 (GRCm39)	Y535*	probably null	Het
Clasp2	T	C	9: 113,641,836 (GRCm39)		probably null	Het
Col16a1	T	A	4: 129,947,151 (GRCm39)	D165E	probably damaging	Het
Col9a1	A	T	1: 24,234,436 (GRCm39)		probably benign	Het
Cpa3	A	T	3: 20,296,307 (GRCm39)	I10N	possibly damaging	Het
Cstf3	T	A	2: 104,439,347 (GRCm39)		probably benign	Het
Dnah3	C	A	7: 119,570,689 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,874,706 (GRCm39)	C263R	probably benign	Het
Eps8l2	C	A	7: 140,936,534 (GRCm39)	Q288K	possibly damaging	Het
Fam193a	T	A	5: 34,578,199 (GRCm39)	V231D	probably damaging	Het
Gjd3	C	T	11: 102,691,029 (GRCm39)	G325S	probably benign	Het
Gpatch8	T	A	11: 102,429,111 (GRCm39)	E39D	unknown	Het
Gpr107	C	T	2: 31,042,375 (GRCm39)	A2V	probably damaging	Het
Kansl3	G	T	1: 36,385,045 (GRCm39)	H629N	possibly damaging	Het
Kcna10	C	A	3: 107,101,545 (GRCm39)	H59N	probably benign	Het
Kitl	A	T	10: 99,915,886 (GRCm39)	E138D	possibly damaging	Het
Kpna2	T	C	11: 106,881,571 (GRCm39)	K353R	probably damaging	Het
M1ap	T	A	6: 82,958,798 (GRCm39)	I143N	probably damaging	Het
Macf1	A	G	4: 123,420,538 (GRCm39)	S239P	possibly damaging	Het
Med13l	T	A	5: 118,880,105 (GRCm39)	S1066T	probably damaging	Het
Mettl23	G	T	11: 116,739,865 (GRCm39)	E47*	probably null	Het
Or52i2	T	C	7: 102,319,433 (GRCm39)	F102S	probably damaging	Het
Proca1	T	A	11: 78,092,699 (GRCm39)	D48E	possibly damaging	Het
Rab34	T	G	11: 78,082,458 (GRCm39)	V227G	probably damaging	Het
Rab7	A	T	6: 87,990,632 (GRCm39)	L14Q	probably damaging	Het
Rasgef1c	C	T	11: 49,847,934 (GRCm39)	S23F	probably benign	Het
Rit1	A	G	3: 88,633,457 (GRCm39)		probably benign	Het
Scin	T	C	12: 40,174,568 (GRCm39)	T172A	probably benign	Het
Scmh1	C	A	4: 120,325,575 (GRCm39)	N97K	probably damaging	Het
Skint6	T	C	4: 112,846,162 (GRCm39)	E655G	possibly damaging	Het
Slc22a15	A	G	3: 101,771,905 (GRCm39)	V243A	probably benign	Het
Smg1	A	G	7: 117,789,042 (GRCm39)		probably benign	Het
Smim7	C	T	8: 73,324,867 (GRCm39)	G3R	probably damaging	Het
Snurf	C	T	7: 59,645,282 (GRCm39)	R44H	possibly damaging	Het
Snx13	G	A	12: 35,174,471 (GRCm39)	A667T	possibly damaging	Het
Sowaha	T	G	11: 53,369,590 (GRCm39)	H382P	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem259	G	T	10: 79,814,442 (GRCm39)		probably null	Het
Topbp1	A	G	9: 103,211,277 (GRCm39)	T945A	probably damaging	Het
Tor1aip2	T	C	1: 155,939,307 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,527,136 (GRCm39)	V118A	probably damaging	Het
Usp38	T	C	8: 81,711,717 (GRCm39)	K773E	probably damaging	Het
Wnk1	G	A	6: 119,925,852 (GRCm39)		probably benign	Het
Zfp871	A	G	17: 32,994,842 (GRCm39)	V111A	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
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
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'- GCCTCAATGAGTAAACATGGAC -3'
(R):5'- CTGCACACTCTTGATAGGAGATG -3'

Sequencing Primer
(F):5'- TGGACCTGTACACACATGTC -3'
(R):5'- ACTCTTGATAGGAGATGACCCCTG -3'

Posted On

2016-10-24