Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Or2a56'

300881

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2a56

Ensembl Gene

ENSMUSG00000073110

Gene Name

olfactory receptor family 2 subfamily A member 56

Synonyms

Olfr444, MOR261-2, GA_x6K02T2P3E9-4602571-4601639

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

42932434-42933366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 42932663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 77 (V77G)

Ref Sequence

ENSEMBL: ENSMUSP00000144691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095955] [ENSMUST00000204092]

AlphaFold

Q8VFS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000095955
AA Change: V77G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093649
Gene: ENSMUSG00000073110
AA Change: V77G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1e-60	PFAM
Pfam:7tm_1	40	289	6.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204092
AA Change: V77G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: V77G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	8.6e-60	PFAM
Pfam:7tm_1	40	289	3.5e-26	PFAM

Coding Region Coverage

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
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046 (GRCm39)	D2228G	probably damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,593,290 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Mastl	A	G	2: 23,022,857 (GRCm39)	V622A	probably benign	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Phax	C	T	18: 56,717,372 (GRCm39)	R250*	probably null	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Riok3	C	T	18: 12,276,017 (GRCm39)	R238C	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,928,725 (GRCm39)		probably benign	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zfp319	C	A	8: 96,055,589 (GRCm39)	V205F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	Het

Other mutations in Or2a56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Or2a56	APN	6	42,933,370 (GRCm39)	utr 3 prime	probably benign
IGL02135:Or2a56	APN	6	42,932,585 (GRCm39)	missense	probably damaging	0.99
IGL02323:Or2a56	APN	6	42,932,917 (GRCm39)	missense	probably benign	0.02
IGL02398:Or2a56	APN	6	42,933,046 (GRCm39)	missense	probably benign	0.02
R0077:Or2a56	UTSW	6	42,932,707 (GRCm39)	missense	probably benign	0.13
R0416:Or2a56	UTSW	6	42,932,504 (GRCm39)	missense	probably benign
R0959:Or2a56	UTSW	6	42,932,686 (GRCm39)	missense	probably benign
R1181:Or2a56	UTSW	6	42,932,492 (GRCm39)	missense	probably benign	0.23
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1604:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.73
R3021:Or2a56	UTSW	6	42,933,118 (GRCm39)	missense	possibly damaging	0.91
R4226:Or2a56	UTSW	6	42,932,689 (GRCm39)	missense	probably benign
R4227:Or2a56	UTSW	6	42,932,648 (GRCm39)	missense	possibly damaging	0.95
R4776:Or2a56	UTSW	6	42,932,455 (GRCm39)	missense	probably benign	0.00
R5941:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.86
R7539:Or2a56	UTSW	6	42,933,037 (GRCm39)	missense	possibly damaging	0.95
R7763:Or2a56	UTSW	6	42,932,723 (GRCm39)	missense	probably benign	0.00
R9800:Or2a56	UTSW	6	42,933,091 (GRCm39)	missense	probably damaging	1.00
X0063:Or2a56	UTSW	6	42,932,953 (GRCm39)	missense	possibly damaging	0.64
Z1176:Or2a56	UTSW	6	42,933,232 (GRCm39)	missense	probably benign	0.14
Z1176:Or2a56	UTSW	6	42,932,624 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16