Mutagenetix > Incidental Mutation

Incidental Mutation 'R8088:Or2y3'

629814

Institutional Source

Beutler Lab

Gene Symbol

Or2y3

Ensembl Gene

ENSMUSG00000043312

Gene Name

olfactory receptor family 2 subfamily Y member 3

Synonyms

GA_x6K02T2PSCP-2531299-2530355, MOR256-4, Olfr131

MMRRC Submission

067521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38392923-38393867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38393452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 139 (H139L)

Ref Sequence

ENSEMBL: ENSMUSP00000134532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059560] [ENSMUST00000172933] [ENSMUST00000215940] [ENSMUST00000216523]

AlphaFold

Q8VGC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059560
AA Change: H139L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061861
Gene: ENSMUSG00000043312
AA Change: H139L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	43	294	4e-35	PFAM
Pfam:7tm_4	141	287	2.7e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172933
AA Change: H139L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134532
Gene: ENSMUSG00000043312
AA Change: H139L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	9.5e-57	PFAM
Pfam:7tm_1	43	294	1.2e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215940
AA Change: H139L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216523
AA Change: H139L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 96.8%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c1	A	T	9: 105,329,768 (GRCm39)		probably null	Het
Ccdc134	T	A	15: 82,015,990 (GRCm39)		probably benign	Het
Ccdc162	G	T	10: 41,499,410 (GRCm39)	H1066Q	possibly damaging	Het
Ccna1	A	G	3: 54,958,492 (GRCm39)	S64P	probably benign	Het
Cplane1	A	G	15: 8,215,802 (GRCm39)	M453V	probably benign	Het
Defb12	T	C	8: 19,162,837 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,338,443 (GRCm39)	V738L	probably benign	Het
Dnah10	A	G	5: 124,831,330 (GRCm39)	N843S	probably benign	Het
Dspp	A	G	5: 104,325,122 (GRCm39)	D495G	unknown	Het
Dus2	A	G	8: 106,757,073 (GRCm39)	M88V	probably benign	Het
Dusp13b	A	G	14: 21,791,305 (GRCm39)	V49A	probably benign	Het
Efcab3	A	T	11: 104,889,072 (GRCm39)	I4163L	probably benign	Het
Ehbp1	G	A	11: 22,039,572 (GRCm39)	H843Y	probably null	Het
Entpd3	A	C	9: 120,383,239 (GRCm39)	R91S	probably benign	Het
Fam83c	C	A	2: 155,673,559 (GRCm39)	V210F	probably damaging	Het
Flot1	G	A	17: 36,140,870 (GRCm39)	A287T	probably damaging	Het
Gm19410	A	G	8: 36,273,995 (GRCm39)	K1412E	probably benign	Het
Gsn	G	A	2: 35,182,659 (GRCm39)	V241M	possibly damaging	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Heatr5a	T	C	12: 51,994,779 (GRCm39)	D451G	possibly damaging	Het
Hmcn2	G	A	2: 31,316,915 (GRCm39)	W3831*	probably null	Het
Il3	A	G	11: 54,156,375 (GRCm39)	V119A	probably benign	Het
Jam3	T	C	9: 27,010,156 (GRCm39)	K276R	probably benign	Het
Kcnt1	G	A	2: 25,784,326 (GRCm39)	G277D	possibly damaging	Het
Kif28	T	A	1: 179,527,919 (GRCm39)	D744V	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Loxhd1	T	C	18: 77,429,709 (GRCm39)	I535T	possibly damaging	Het
Lzts1	A	C	8: 69,588,474 (GRCm39)	L494R	probably benign	Het
Mettl4	A	G	17: 95,042,795 (GRCm39)	V347A	probably damaging	Het
Mff	A	G	1: 82,729,370 (GRCm39)	E270G	probably damaging	Het
Mroh2b	A	T	15: 4,929,985 (GRCm39)	I24F	possibly damaging	Het
Muc16	A	T	9: 18,430,596 (GRCm39)	Y8102*	probably null	Het
Myh14	A	T	7: 44,314,920 (GRCm39)	M1K	probably null	Het
Myo18b	T	A	5: 113,027,376 (GRCm39)		probably benign	Het
Neurl1a	C	A	19: 47,245,873 (GRCm39)	P502T	probably damaging	Het
Nrp1	G	A	8: 129,194,997 (GRCm39)	W484*	probably null	Het
Or4f47	T	A	2: 111,972,602 (GRCm39)	I104N	probably benign	Het
Pcdhac1	T	C	18: 37,224,807 (GRCm39)	V540A	possibly damaging	Het
Pcdhga9	A	G	18: 37,870,007 (GRCm39)		probably benign	Het
Pm20d1	A	C	1: 131,729,501 (GRCm39)	N176T	probably benign	Het
Pnldc1	T	C	17: 13,116,189 (GRCm39)	D271G	probably damaging	Het
Pold3	A	G	7: 99,761,508 (GRCm39)	V63A	probably damaging	Het
Rbm18	A	C	2: 36,017,196 (GRCm39)	S61A	probably benign	Het
Rdh14	T	C	12: 10,444,551 (GRCm39)	L134P	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rtel1	A	G	2: 180,964,138 (GRCm39)	T46A	probably damaging	Het
Rtn3	T	C	19: 7,412,363 (GRCm39)	I823V	probably damaging	Het
S1pr1	A	G	3: 115,505,683 (GRCm39)	S304P	probably damaging	Het
Scfd2	A	G	5: 74,692,024 (GRCm39)	V86A	probably benign	Het
Scgb1a1	C	T	19: 9,062,599 (GRCm39)	V66M	probably damaging	Het
Sec31a	A	T	5: 100,526,721 (GRCm39)	M46K		Het
Sgsm1	A	G	5: 113,403,134 (GRCm39)	M971T	probably damaging	Het
Slc5a11	T	C	7: 122,864,951 (GRCm39)	I419T	probably benign	Het
Slco6d1	A	T	1: 98,394,431 (GRCm39)	T372S	possibly damaging	Het
Slx9	T	C	10: 77,350,229 (GRCm39)	N53S	probably benign	Het
Spata31	T	A	13: 65,068,679 (GRCm39)	Y276N	probably benign	Het
Sprr2k	C	T	3: 92,340,796 (GRCm39)	R49W	unknown	Het
Sspo	G	A	6: 48,434,547 (GRCm39)	C1013Y	probably damaging	Het
Ssr2	A	G	3: 88,487,190 (GRCm39)	R2G	possibly damaging	Het
St18	C	A	1: 6,898,229 (GRCm39)	T677K	probably benign	Het
Thap11	A	T	8: 106,582,527 (GRCm39)	I179F	probably damaging	Het
Trf	C	A	9: 103,089,130 (GRCm39)	G586C	probably damaging	Het
Umodl1	A	G	17: 31,192,770 (GRCm39)	N299S	probably benign	Het
Xrcc5	C	A	1: 72,351,595 (GRCm39)	A55E	probably damaging	Het

Other mutations in Or2y3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Or2y3	APN	17	38,393,544 (GRCm39)	missense	possibly damaging	0.48
IGL01287:Or2y3	APN	17	38,392,998 (GRCm39)	missense	probably damaging	1.00
IGL01637:Or2y3	APN	17	38,392,994 (GRCm39)	missense	possibly damaging	0.90
IGL02833:Or2y3	APN	17	38,393,243 (GRCm39)	missense	possibly damaging	0.84
IGL02927:Or2y3	APN	17	38,393,114 (GRCm39)	missense	probably benign	0.00
R0662:Or2y3	UTSW	17	38,393,824 (GRCm39)	missense	probably benign	0.09
R0755:Or2y3	UTSW	17	38,393,085 (GRCm39)	nonsense	probably null
R1526:Or2y3	UTSW	17	38,393,486 (GRCm39)	missense	probably damaging	0.99
R2155:Or2y3	UTSW	17	38,393,071 (GRCm39)	missense	probably damaging	1.00
R3123:Or2y3	UTSW	17	38,392,903 (GRCm39)	splice site	probably null
R3125:Or2y3	UTSW	17	38,392,903 (GRCm39)	splice site	probably null
R4135:Or2y3	UTSW	17	38,393,248 (GRCm39)	missense	possibly damaging	0.52
R4244:Or2y3	UTSW	17	38,393,321 (GRCm39)	missense	probably benign	0.12
R5104:Or2y3	UTSW	17	38,393,174 (GRCm39)	missense	possibly damaging	0.47
R5182:Or2y3	UTSW	17	38,393,005 (GRCm39)	missense	probably benign	0.03
R5293:Or2y3	UTSW	17	38,393,131 (GRCm39)	missense	probably damaging	1.00
R5738:Or2y3	UTSW	17	38,393,347 (GRCm39)	missense	probably damaging	1.00
R5924:Or2y3	UTSW	17	38,393,254 (GRCm39)	missense	probably benign	0.01
R6218:Or2y3	UTSW	17	38,393,620 (GRCm39)	missense	probably damaging	0.98
R6362:Or2y3	UTSW	17	38,393,620 (GRCm39)	missense	probably damaging	0.99
R6961:Or2y3	UTSW	17	38,393,096 (GRCm39)	missense	probably damaging	0.99
R7838:Or2y3	UTSW	17	38,393,293 (GRCm39)	missense	probably benign	0.00
R8730:Or2y3	UTSW	17	38,392,925 (GRCm39)	makesense	probably null
R9303:Or2y3	UTSW	17	38,393,629 (GRCm39)	missense	probably damaging	1.00
R9305:Or2y3	UTSW	17	38,393,629 (GRCm39)	missense	probably damaging	1.00
R9378:Or2y3	UTSW	17	38,393,056 (GRCm39)	missense	possibly damaging	0.92
R9776:Or2y3	UTSW	17	38,393,470 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTGACCCAGGTGTCAACAC -3'
(R):5'- AGTGGCCACGACTGGAAATG -3'

Sequencing Primer
(F):5'- GTGTCAACACATGATAACTGAAGC -3'
(R):5'- ACGACTGGAAATGGCTCTTC -3'

Posted On

2020-06-30