Mutagenetix > Incidental Mutation

Incidental Mutation 'R9305:Or2y3'

705192

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

Accession Numbers

Essential gene?

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

Stock #

R9305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38392923-38393867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38393629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 80 (V80D)

Ref Sequence

ENSEMBL: ENSMUSP00000134532 (fasta)

Gene Model

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

AlphaFold

Q8VGC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059560
AA Change: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061861
Gene: ENSMUSG00000043312
AA Change: V80D

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

probably damaging
Transcript: ENSMUST00000172933
AA Change: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134532
Gene: ENSMUSG00000043312
AA Change: V80D

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

probably damaging
Transcript: ENSMUST00000215940
AA Change: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216523
AA Change: V80D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Abhd8	A	G	8: 71,911,148 (GRCm39)	V261A	possibly damaging	Het
Adam34	A	T	8: 44,104,416 (GRCm39)	C410S	probably damaging	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Apob	A	G	12: 8,058,053 (GRCm39)	I2178M	probably benign	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Cacng2	T	G	15: 77,897,542 (GRCm39)	Y89S	possibly damaging	Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cdh9	T	A	15: 16,832,138 (GRCm39)	Y342N	probably damaging	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Clstn2	T	A	9: 97,343,537 (GRCm39)	I637F	probably damaging	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ddx55	C	T	5: 124,705,012 (GRCm39)	S427F	probably damaging	Het
Dpysl5	T	C	5: 30,948,959 (GRCm39)	W405R	probably damaging	Het
Esyt1	A	G	10: 128,355,388 (GRCm39)	V451A	possibly damaging	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Foxa3	A	G	7: 18,748,961 (GRCm39)	L55P	possibly damaging	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Klb	T	A	5: 65,505,988 (GRCm39)	Y78*	probably null	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Lrrc43	C	T	5: 123,646,219 (GRCm39)	A657V	unknown	Het
Mief2	C	A	11: 60,622,042 (GRCm39)	P204Q	possibly damaging	Het
Morc3	G	T	16: 93,667,302 (GRCm39)	R560L	probably benign	Het
Or8c20	A	C	9: 38,260,381 (GRCm39)	M1L	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Prune2	A	G	19: 17,097,625 (GRCm39)	D1043G	probably benign	Het
Rpl6	T	C	5: 121,346,516 (GRCm39)	S206P	possibly damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Stx11	A	T	10: 12,817,564 (GRCm39)	D53E	probably benign	Het
Thoc3	C	T	13: 54,607,998 (GRCm39)	W315*	probably null	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfc3h1	A	G	10: 115,255,771 (GRCm39)	D1474G	probably benign	Het
Zfp873	T	C	10: 81,896,514 (GRCm39)	F415S	probably benign	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
R8088:Or2y3	UTSW	17	38,393,452 (GRCm39)	missense	possibly damaging	0.78
R8730:Or2y3	UTSW	17	38,392,925 (GRCm39)	makesense	probably null
R9303: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'- CCAGTTATCCAGGCTACTGC -3'
(R):5'- AGTGGCCACGACTGGAAATG -3'

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

Posted On

2022-03-25