Mutagenetix > Incidental Mutation

Incidental Mutation 'R7610:Or8i2'

588532

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

MMRRC Submission

045679-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.882) question?

Stock #

R7610 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86851954-86852886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86852141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 249 (V249A)

Ref Sequence

ENSEMBL: ENSMUSP00000150156 (fasta)

Gene Model

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

AlphaFold

A2AVB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099869
AA Change: V249A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: V249A

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

possibly damaging
Transcript: ENSMUST00000214857
AA Change: V249A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215972
AA Change: V249A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (51/51)

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
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adtrp	A	G	13: 41,969,670 (GRCm39)	F110L	probably benign	Het
Akap9	T	G	5: 4,007,677 (GRCm39)	D230E	possibly damaging	Het
Alg11	G	A	8: 22,555,147 (GRCm39)	R136H	probably damaging	Het
Ank3	A	T	10: 69,822,252 (GRCm39)	N307I		Het
Ankrd17	A	G	5: 90,380,222 (GRCm39)	S2489P	possibly damaging	Het
Asf1b	T	G	8: 84,691,678 (GRCm39)	I43S	probably damaging	Het
Cdc37l1	G	T	19: 28,985,132 (GRCm39)	G261W	possibly damaging	Het
Cpped1	C	A	16: 11,712,742 (GRCm39)		probably null	Het
Ctsk	T	C	3: 95,408,155 (GRCm39)	F4L	probably benign	Het
D130043K22Rik	A	T	13: 25,059,985 (GRCm39)	T619S	probably benign	Het
Ddx25	T	A	9: 35,465,893 (GRCm39)	L109F	possibly damaging	Het
Dhrs9	C	A	2: 69,223,291 (GRCm39)	A13D	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fam228a	A	G	12: 4,781,423 (GRCm39)		probably null	Het
Fancm	T	C	12: 65,152,454 (GRCm39)	V970A	probably damaging	Het
Fcrl2	C	A	3: 87,160,004 (GRCm39)	V417F	probably damaging	Het
Fig4	C	A	10: 41,129,709 (GRCm39)	A504S	probably damaging	Het
Frmpd1	T	C	4: 45,279,098 (GRCm39)	S608P	probably damaging	Het
Ggta1	C	T	2: 35,304,230 (GRCm39)		probably null	Het
Grb10	T	C	11: 11,893,955 (GRCm39)	K377R	probably benign	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Klf14	A	G	6: 30,935,005 (GRCm39)	S210P	probably damaging	Het
Mcm3ap	A	G	10: 76,332,554 (GRCm39)		probably null	Het
Mgrn1	T	C	16: 4,752,097 (GRCm39)	*533Q	probably null	Het
Mtarc2	A	G	1: 184,551,483 (GRCm39)	Y318H	probably benign	Het
Notch1	A	T	2: 26,368,191 (GRCm39)	H598Q	probably benign	Het
Nt5el	T	A	13: 105,247,695 (GRCm39)	N338K	probably damaging	Het
Ntng1	A	G	3: 109,842,141 (GRCm39)	S211P	probably damaging	Het
Or13a21	A	T	7: 139,999,466 (GRCm39)	C73*	probably null	Het
Pgm5	A	C	19: 24,812,120 (GRCm39)	N137K	probably damaging	Het
Plcb2	T	A	2: 118,550,240 (GRCm39)	N172I	possibly damaging	Het
Pramel26	A	T	4: 143,539,436 (GRCm39)	M19K	probably damaging	Het
Rab11fip1	G	A	8: 27,642,064 (GRCm39)	H912Y	probably benign	Het
Rgl1	A	G	1: 152,428,371 (GRCm39)	V251A	probably damaging	Het
Rgs6	T	C	12: 83,138,553 (GRCm39)	Y296H	probably damaging	Het
Rhpn1	A	G	15: 75,584,245 (GRCm39)	T446A	unknown	Het
Rtn3	A	G	19: 7,435,294 (GRCm39)	S233P	probably damaging	Het
Rwdd1	A	C	10: 33,877,134 (GRCm39)	D203E	probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Slfn5	T	C	11: 82,852,310 (GRCm39)	L812P	probably damaging	Het
Smc1b	T	C	15: 84,955,021 (GRCm39)	D1077G	possibly damaging	Het
Snrnp48	A	G	13: 38,393,937 (GRCm39)	R81G	probably damaging	Het
Syt17	A	T	7: 118,033,682 (GRCm39)		probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttc3	T	C	16: 94,228,697 (GRCm39)	I757T	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Wdr54	C	T	6: 83,129,839 (GRCm39)	V305M	possibly damaging	Het
Xirp2	C	T	2: 67,356,306 (GRCm39)	T3689I	possibly damaging	Het
Zscan18	T	C	7: 12,503,237 (GRCm39)	K774R	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
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
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'- CAAAGGACACGATTTGTTACAGAAG -3'
(R):5'- TTAGCCCTGTCCTGTGTAGATG -3'

Sequencing Primer
(F):5'- CACGATTTGTTACAGAAGGTGTTTTC -3'
(R):5'- GCCTTCAGCACGGAATTGGTG -3'

Posted On

2019-10-24