Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Or8i2'

685006

Institutional Source

Beutler Lab

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 #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86851954-86852886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86852241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

Ref Sequence

ENSEMBL: ENSMUSP00000150156 (fasta)

Gene Model

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

AlphaFold

A2AVB5

Predicted Effect

probably benign
Transcript: ENSMUST00000099869
AA Change: T216A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: T216A

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 benign
Transcript: ENSMUST00000214857
AA Change: T216A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000215972
AA Change: T216A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Akt1	T	C	12: 112,626,048 (GRCm39)	I75V	probably benign	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Ifi211	A	G	1: 173,733,894 (GRCm39)	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Irf9	T	A	14: 55,845,140 (GRCm39)	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Sarnp	T	A	10: 128,657,842 (GRCm39)		probably null	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,661,308 (GRCm39)	F624Y	probably damaging	Het
Tnni2	A	G	7: 141,998,013 (GRCm39)	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp32	G	A	11: 84,944,777 (GRCm39)	R304C	probably damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	possibly damaging	Het

Other mutations in Or8i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Or8i2	APN	2	86,852,228 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTAGAACACAGAGGCTACCTG -3'
(R):5'- TGGCTGGCAGTAATACCATACATG -3'

Sequencing Primer
(F):5'- CAGAGGCTACCTGTGCTTG -3'
(R):5'- TGGCAGTAATACCATACATGATAGGC -3'

Posted On

2021-10-11