Mutagenetix > Incidental Mutation

Incidental Mutation 'R2917:Or5af2'

254910

Institutional Source

Beutler Lab

Gene Symbol

Or5af2

Ensembl Gene

ENSMUSG00000070438

Gene Name

olfactory receptor family 5 subfamily AC member 20

Synonyms

MOR222-2, GA_x6K02T2NKPP-590035-589109, Olfr313

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2917 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58707754-58708827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58708314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 160 (N160S)

Ref Sequence

ENSEMBL: ENSMUSP00000150529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082220] [ENSMUST00000217506]

AlphaFold

Q5NC55

Predicted Effect

probably damaging
Transcript: ENSMUST00000082220
AA Change: N160S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080852
Gene: ENSMUSG00000070438
AA Change: N160S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	217	4.5e-9	PFAM
Pfam:7tm_1	39	288	5.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217506
AA Change: N160S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,141 (GRCm39)	V568E	probably damaging	Het
Ap3m2	A	G	8: 23,289,815 (GRCm39)	V96A	probably benign	Het
Bglap3	G	C	3: 88,276,819 (GRCm39)		probably benign	Het
Brd7	A	G	8: 89,069,408 (GRCm39)	I429T	probably damaging	Het
Cacna1h	A	C	17: 25,614,426 (GRCm39)	L230R	probably damaging	Het
Camta2	A	G	11: 70,571,787 (GRCm39)	F479S	probably damaging	Het
Cmya5	A	T	13: 93,227,572 (GRCm39)	Y2505*	probably null	Het
Colgalt2	T	A	1: 152,347,495 (GRCm39)	V143D	probably damaging	Het
Dnaja1	C	T	4: 40,724,052 (GRCm39)	A71V	possibly damaging	Het
Gpr33	A	G	12: 52,070,379 (GRCm39)	V220A	possibly damaging	Het
Hsph1	A	T	5: 149,554,251 (GRCm39)	L168*	probably null	Het
Lig4	T	A	8: 10,021,596 (GRCm39)	E728V	possibly damaging	Het
Mrps23	T	C	11: 88,100,743 (GRCm39)	S75P	probably damaging	Het
Or2aa1	T	C	11: 59,480,265 (GRCm39)	T217A	probably benign	Het
Prss50	G	T	9: 110,691,613 (GRCm39)	G306C	probably null	Het
Rnf149	A	T	1: 39,591,564 (GRCm39)	S392T	probably benign	Het
Scn8a	T	A	15: 100,937,613 (GRCm39)	F1661I	probably damaging	Het
Slc12a8	T	A	16: 33,371,296 (GRCm39)	I144N	probably damaging	Het
Stxbp5l	A	T	16: 37,021,004 (GRCm39)	L630*	probably null	Het
Tmem131l	G	A	3: 83,844,887 (GRCm39)	R441*	probably null	Het
Trim63	T	C	4: 134,050,462 (GRCm39)	Y249H	probably damaging	Het
Vmn2r125	T	G	4: 156,703,564 (GRCm39)	L314R	probably benign	Het
Vwf	A	G	6: 125,585,106 (GRCm39)	N663D	probably benign	Het

Other mutations in Or5af2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:Or5af2	UTSW	11	58,708,266 (GRCm39)	missense	possibly damaging	0.80
FR4976:Or5af2	UTSW	11	58,708,266 (GRCm39)	missense	possibly damaging	0.80
LCD18:Or5af2	UTSW	11	58,708,266 (GRCm39)	missense	possibly damaging	0.80
R0269:Or5af2	UTSW	11	58,707,975 (GRCm39)	missense	probably damaging	1.00
R0617:Or5af2	UTSW	11	58,707,975 (GRCm39)	missense	probably damaging	1.00
R0707:Or5af2	UTSW	11	58,708,577 (GRCm39)	missense	probably damaging	1.00
R3085:Or5af2	UTSW	11	58,708,553 (GRCm39)	missense	probably damaging	1.00
R4245:Or5af2	UTSW	11	58,708,604 (GRCm39)	missense	probably damaging	1.00
R4991:Or5af2	UTSW	11	58,708,544 (GRCm39)	missense	probably damaging	1.00
R5188:Or5af2	UTSW	11	58,708,146 (GRCm39)	missense	probably damaging	0.96
R6985:Or5af2	UTSW	11	58,707,939 (GRCm39)	missense	probably damaging	0.98
R7076:Or5af2	UTSW	11	58,707,990 (GRCm39)	missense	probably benign	0.17
R7253:Or5af2	UTSW	11	58,708,366 (GRCm39)	nonsense	probably null
R7553:Or5af2	UTSW	11	58,707,886 (GRCm39)	missense	probably benign	0.10
R8204:Or5af2	UTSW	11	58,707,885 (GRCm39)	missense	probably benign	0.05
R9110:Or5af2	UTSW	11	58,707,959 (GRCm39)	missense	possibly damaging	0.93
R9211:Or5af2	UTSW	11	58,708,709 (GRCm39)	missense	probably damaging	1.00
R9600:Or5af2	UTSW	11	58,708,370 (GRCm39)	missense	possibly damaging	0.49
Z1186:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1186:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1187:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1188:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1189:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1190:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,243 (GRCm39)	missense	probably benign
Z1191:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,220 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,122 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,707,887 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,644 (GRCm39)	missense	probably benign
Z1192:Or5af2	UTSW	11	58,708,508 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGGTCATCTCCTATCAAGAGTG -3'
(R):5'- AGAACTGTGGCCACAATGC -3'

Sequencing Primer
(F):5'- GTCATCTCCTATCAAGAGTGTGTAGC -3'
(R):5'- TGCCAATATAGGAGACCACTGTG -3'

Posted On

2014-12-29