Mutagenetix > Incidental Mutation

Incidental Mutation 'R5188:Or5af2'

398019

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 #

R5188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58707754-58708827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58708146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 104 (T104K)

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: T104K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080852
Gene: ENSMUSG00000070438
AA Change: T104K

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: T104K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca12	T	A	1: 71,330,651 (GRCm39)	I1335F	probably benign	Het
Amigo3	C	A	9: 107,931,882 (GRCm39)	A435E	probably damaging	Het
Atr	T	A	9: 95,803,778 (GRCm39)	N1871K	probably benign	Het
Ctsw	C	T	19: 5,517,120 (GRCm39)	A71T	probably damaging	Het
Decr1	C	T	4: 15,924,270 (GRCm39)	V217M	probably damaging	Het
Golgb1	A	G	16: 36,738,827 (GRCm39)	T2389A	probably benign	Het
Gpr151	A	G	18: 42,711,820 (GRCm39)	M286T	probably benign	Het
Katnbl1	T	A	2: 112,240,499 (GRCm39)	I262N	probably damaging	Het
Lrp1	A	G	10: 127,443,821 (GRCm39)	C149R	probably damaging	Het
Mpc1	A	T	17: 8,515,215 (GRCm39)		probably benign	Het
Ndufv1	A	T	19: 4,059,988 (GRCm39)	N37K	probably damaging	Het
Or1n1b	T	A	2: 36,780,405 (GRCm39)	I152L	probably benign	Het
Or8g50	T	C	9: 39,648,531 (GRCm39)	V140A	probably benign	Het
Or8k1	T	G	2: 86,047,521 (GRCm39)	S178R	probably benign	Het
Pnpla7	C	A	2: 24,887,312 (GRCm39)	P52Q	probably benign	Het
Prh1	A	G	6: 132,548,670 (GRCm39)	Q59R	unknown	Het
Ren1	A	G	1: 133,278,351 (GRCm39)		probably benign	Het
Rnf148	T	C	6: 23,654,139 (GRCm39)	T286A	probably damaging	Het
Sdk1	T	C	5: 141,942,015 (GRCm39)		probably null	Het
Srp72	T	A	5: 77,122,598 (GRCm39)	S10T	possibly damaging	Het
Stk11	G	T	10: 79,962,113 (GRCm39)	G215V	probably damaging	Het
Stk4	T	C	2: 163,930,828 (GRCm39)	M143T	possibly damaging	Het
Supt20	T	A	3: 54,617,849 (GRCm39)	S318T	possibly damaging	Het
Tchh	G	C	3: 93,353,986 (GRCm39)	R1142P	unknown	Het
Vipas39	G	T	12: 87,301,021 (GRCm39)	R161S	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
R2917:Or5af2	UTSW	11	58,708,314 (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
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'- GACAAGAGACAGTCGACTCC -3'
(R):5'- TGACTGGAGGGATGTCACAG -3'

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

Posted On

2016-07-06