Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01534:Or8i2'

89896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8i2

Ensembl Gene

ENSMUSG00000075166

Gene Name

olfactory receptor family 8 subfamily I member 2

Synonyms

MOR207-1, GA_x6K02T2Q125-48508763-48507833, Olfr1104

Accession Numbers

Essential gene?

Probably essential (E-score: 0.896) question?

Stock #

IGL01534

Quality Score

Status

Chromosome

Chromosomal Location

86851954-86852886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86852228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 220 (I220T)

Ref Sequence

ENSEMBL: ENSMUSP00000149240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099869] [ENSMUST00000214857] [ENSMUST00000215972]

AlphaFold

A2AVB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099869
AA Change: I220T

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

SMART Domains

Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: I220T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	9.3e-48	PFAM
Pfam:7tm_1	41	289	2.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214857
AA Change: I220T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215972
AA Change: I220T

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,197,146 (GRCm39)	L111P	possibly damaging	Het
Adck5	C	A	15: 76,478,926 (GRCm39)	H383Q	probably damaging	Het
Arb2a	T	A	13: 78,147,830 (GRCm39)		probably benign	Het
Asns	T	A	6: 7,675,397 (GRCm39)	H535L	probably benign	Het
Atf5	A	G	7: 44,462,462 (GRCm39)	S221P	probably damaging	Het
Atr	T	C	9: 95,747,599 (GRCm39)	Y294H	probably damaging	Het
B230307C23Rik	A	G	16: 97,809,961 (GRCm39)		probably benign	Het
C1qtnf6	C	T	15: 78,409,416 (GRCm39)	E144K	probably benign	Het
Casp8ap2	C	T	4: 32,648,134 (GRCm39)		probably benign	Het
Cd48	C	A	1: 171,523,307 (GRCm39)	P50Q	possibly damaging	Het
Cnnm4	T	C	1: 36,538,596 (GRCm39)	Y593H	probably benign	Het
Col27a1	G	A	4: 63,144,019 (GRCm39)	R569Q	probably benign	Het
Cubn	A	T	2: 13,470,744 (GRCm39)	C549*	probably null	Het
Dsg1a	T	A	18: 20,474,053 (GRCm39)	M1042K	probably benign	Het
Dzip1	T	A	14: 119,114,651 (GRCm39)	T835S	probably damaging	Het
Eif3c	T	C	7: 126,156,867 (GRCm39)	T389A	probably benign	Het
Erlin2	G	T	8: 27,521,985 (GRCm39)	E177*	probably null	Het
Gabrb1	T	A	5: 72,026,772 (GRCm39)	S91T	possibly damaging	Het
Grik3	T	C	4: 125,579,983 (GRCm39)	V576A	probably damaging	Het
Gtpbp2	T	A	17: 46,474,430 (GRCm39)	Y70N	probably damaging	Het
Idh3a	T	A	9: 54,508,506 (GRCm39)		probably benign	Het
Ift74	G	A	4: 94,568,181 (GRCm39)	R406H	probably benign	Het
Kcna7	C	A	7: 45,055,935 (GRCm39)	N50K	probably damaging	Het
Kcnd2	T	C	6: 21,726,144 (GRCm39)	S546P	probably benign	Het
Lrp4	G	A	2: 91,303,986 (GRCm39)	D134N	probably damaging	Het
Mcm2	A	G	6: 88,864,700 (GRCm39)		probably null	Het
Nlrp12	T	C	7: 3,288,463 (GRCm39)	Y683C	probably benign	Het
Or14j3	A	T	17: 37,900,963 (GRCm39)	Y94N	possibly damaging	Het
Or2d4	T	A	7: 106,543,546 (GRCm39)	I221F	probably damaging	Het
Or9i1	A	T	19: 13,839,283 (GRCm39)	N42I	probably damaging	Het
Or9i14	T	A	19: 13,792,666 (GRCm39)	H96L	probably benign	Het
P2rx7	A	C	5: 122,814,761 (GRCm39)	I409L	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Rabggtb	A	G	3: 153,615,896 (GRCm39)		probably null	Het
Rgs4	A	T	1: 169,572,085 (GRCm39)	C71*	probably null	Het
Rnase10	T	C	14: 51,245,436 (GRCm39)	F5L	probably benign	Het
Scn11a	T	A	9: 119,609,888 (GRCm39)	T987S	probably benign	Het
Shox2	A	C	3: 66,885,696 (GRCm39)	D126E	probably benign	Het
Slc12a1	A	G	2: 125,059,830 (GRCm39)	D910G	probably damaging	Het
Slc15a1	C	T	14: 121,702,364 (GRCm39)	C594Y	possibly damaging	Het
Spock2	C	T	10: 59,962,883 (GRCm39)		probably benign	Het
Togaram1	G	T	12: 65,013,321 (GRCm39)	D191Y	probably damaging	Het
Triml2	T	C	8: 43,640,660 (GRCm39)	V172A	probably benign	Het
Tubb3	C	T	8: 124,147,705 (GRCm39)	R213C	probably benign	Het
Vmn2r4	A	T	3: 64,313,844 (GRCm39)	V379E	probably damaging	Het
Zfp446	C	T	7: 12,713,493 (GRCm39)	P153L	probably damaging	Het
Zfp608	A	T	18: 55,032,004 (GRCm39)	N645K	probably damaging	Het

Other mutations in Or8i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02533:Or8i2	APN	2	86,852,697 (GRCm39)	missense	probably damaging	1.00
IGL02662:Or8i2	APN	2	86,852,346 (GRCm39)	missense	probably benign	0.09
IGL02704:Or8i2	APN	2	86,852,621 (GRCm39)	missense	probably benign	0.00
R0145:Or8i2	UTSW	2	86,852,134 (GRCm39)	nonsense	probably null
R0625:Or8i2	UTSW	2	86,851,964 (GRCm39)	missense	probably benign
R1169:Or8i2	UTSW	2	86,852,061 (GRCm39)	missense	probably damaging	1.00
R1570:Or8i2	UTSW	2	86,852,616 (GRCm39)	missense	probably benign
R1727:Or8i2	UTSW	2	86,852,607 (GRCm39)	missense	probably damaging	1.00
R2146:Or8i2	UTSW	2	86,852,009 (GRCm39)	missense	probably damaging	1.00
R2192:Or8i2	UTSW	2	86,852,855 (GRCm39)	missense	probably benign	0.01
R3716:Or8i2	UTSW	2	86,852,707 (GRCm39)	nonsense	probably null
R3818:Or8i2	UTSW	2	86,852,054 (GRCm39)	missense	probably benign	0.02
R4711:Or8i2	UTSW	2	86,852,370 (GRCm39)	missense	probably damaging	1.00
R6104:Or8i2	UTSW	2	86,852,057 (GRCm39)	missense	probably damaging	1.00
R6482:Or8i2	UTSW	2	86,852,869 (GRCm39)	missense	probably benign	0.00
R7474:Or8i2	UTSW	2	86,852,898 (GRCm39)	start gained	probably benign
R7517:Or8i2	UTSW	2	86,852,486 (GRCm39)	missense	probably benign	0.45
R7610:Or8i2	UTSW	2	86,852,141 (GRCm39)	missense	possibly damaging	0.59
R7944:Or8i2	UTSW	2	86,852,657 (GRCm39)	missense	probably benign	0.01
R7945:Or8i2	UTSW	2	86,852,657 (GRCm39)	missense	probably benign	0.01
R8235:Or8i2	UTSW	2	86,852,226 (GRCm39)	missense	probably benign	0.36
R8966:Or8i2	UTSW	2	86,852,879 (GRCm39)	missense	possibly damaging	0.60
R9002:Or8i2	UTSW	2	86,852,241 (GRCm39)	missense	probably benign	0.41
X0019:Or8i2	UTSW	2	86,851,979 (GRCm39)	missense	probably benign	0.00
Z1177:Or8i2	UTSW	2	86,851,962 (GRCm39)	missense	probably benign	0.02

Posted On

2013-12-03