Mutagenetix > Incidental Mutation

Incidental Mutation 'R3716:Or8i2'

259894

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: 0.882) question?

Stock #

R3716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86851954-86852886 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86852707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 60 (Y60*)

Ref Sequence

ENSEMBL: ENSMUSP00000149240 (fasta)

Gene Model

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

AlphaFold

A2AVB5

Predicted Effect

probably null
Transcript: ENSMUST00000099869
AA Change: Y60*

SMART Domains

Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: Y60*

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 null
Transcript: ENSMUST00000214857
AA Change: Y60*

Predicted Effect

probably null
Transcript: ENSMUST00000215972
AA Change: Y60*

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,363 (GRCm39)	L690H	probably damaging	Het
Abtb3	C	T	10: 85,397,392 (GRCm39)	H442Y	probably damaging	Het
Acaa1b	A	G	9: 118,985,709 (GRCm39)	V72A	probably benign	Het
Actl7a	T	C	4: 56,744,295 (GRCm39)	L274P	possibly damaging	Het
Ankrd50	T	C	3: 38,508,299 (GRCm39)	E433G	probably damaging	Het
Ano6	A	G	15: 95,811,260 (GRCm39)	D120G	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Caps2	A	G	10: 112,036,637 (GRCm39)	H399R	probably benign	Het
Col6a6	A	C	9: 105,659,373 (GRCm39)	L524R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dglucy	A	T	12: 100,816,375 (GRCm39)	N339I	probably damaging	Het
Dhrs4	G	T	14: 55,716,362 (GRCm39)	M1I	probably null	Het
Disp1	A	T	1: 182,869,315 (GRCm39)	L1035Q	probably damaging	Het
Ephb1	T	C	9: 102,071,999 (GRCm39)	E260G	probably damaging	Het
Fetub	T	A	16: 22,754,443 (GRCm39)	C217S	probably damaging	Het
Firrm	T	C	1: 163,784,457 (GRCm39)	I779M	probably damaging	Het
Frem2	T	C	3: 53,479,781 (GRCm39)	S1971G	probably damaging	Het
Gria2	A	G	3: 80,648,311 (GRCm39)	Y142H	possibly damaging	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il21r	A	G	7: 125,231,441 (GRCm39)	K290E	probably damaging	Het
Inpp5f	C	G	7: 128,292,394 (GRCm39)	L17V	probably damaging	Het
Kcnh3	A	G	15: 99,130,646 (GRCm39)	N421S	possibly damaging	Het
Krt33a	A	C	11: 99,904,991 (GRCm39)	C172G	probably benign	Het
Lrp6	A	T	6: 134,484,410 (GRCm39)	H404Q	probably damaging	Het
Macf1	T	C	4: 123,367,295 (GRCm39)	T924A	probably benign	Het
Mepe	C	A	5: 104,485,294 (GRCm39)	H145N	probably benign	Het
Mesp2	T	G	7: 79,462,542 (GRCm39)	L366R	possibly damaging	Het
Mink1	T	A	11: 70,498,587 (GRCm39)	L584Q	probably damaging	Het
Mms19	A	G	19: 41,933,174 (GRCm39)	V997A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Myo15b	G	T	11: 115,754,239 (GRCm39)	C913F	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Nelfcd	T	C	2: 174,264,798 (GRCm39)	V179A	possibly damaging	Het
Obscn	C	T	11: 58,973,487 (GRCm39)	C2157Y	probably damaging	Het
Orc1	C	T	4: 108,471,656 (GRCm39)	A836V	probably damaging	Het
Pcdhb6	G	T	18: 37,469,259 (GRCm39)	V43L	probably benign	Het
Prkcd	G	T	14: 30,321,669 (GRCm39)	D393E	probably benign	Het
Rb1cc1	G	C	1: 6,340,914 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,419,988 (GRCm39)	T375S	probably benign	Het
Slc9c1	A	T	16: 45,400,582 (GRCm39)	M731L	probably benign	Het
Sox21	A	T	14: 118,472,842 (GRCm39)	M69K	probably benign	Het
Spata18	A	T	5: 73,824,193 (GRCm39)		probably null	Het
Taok1	A	G	11: 77,432,636 (GRCm39)	F726L	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Ubac1	C	T	2: 25,904,953 (GRCm39)	R95H	probably damaging	Het
Usp32	A	G	11: 84,933,389 (GRCm39)	Y40H	probably damaging	Het
Usp37	A	T	1: 74,532,145 (GRCm39)	S83T	possibly damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TAAGCCATGGATCCCAGAAGG -3'
(R):5'- GCAGTCCCTGGTTGTCAAATC -3'

Sequencing Primer
(F):5'- TCCCAGAAGGAAACACTCACTG -3'
(R):5'- CAAGTTTAAGTCAGTGGTTACATCAC -3'

Posted On

2015-01-23