Mutagenetix > Incidental Mutation

Incidental Mutation 'R1571:Or8h8'

186188

Institutional Source

Beutler Lab

Gene Symbol

Or8h8

Ensembl Gene

ENSMUSG00000075169

Gene Name

olfactory receptor family 8 subfamily H member 8

Synonyms

MOR206-1, Olfr1098, GA_x6K02T2Q125-48410458-48409511

MMRRC Submission

039610-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86752927-86753874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86753789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 29 (V29G)

Ref Sequence

ENSEMBL: ENSMUSP00000107200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099872] [ENSMUST00000111574]

AlphaFold

A2AVB0

Predicted Effect

probably benign
Transcript: ENSMUST00000099872
AA Change: V29G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097457
Gene: ENSMUSG00000075169
AA Change: V29G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	7e-29	PFAM
Pfam:7tm_4	140	283	3.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111574
AA Change: V29G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107200
Gene: ENSMUSG00000075169
AA Change: V29G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-52	PFAM
Pfam:7tm_1	41	309	8.1e-20	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	G	5: 114,961,372 (GRCm39)		probably null	Het
Abcd3	T	C	3: 121,586,491 (GRCm39)	I70V	possibly damaging	Het
Acad10	T	C	5: 121,759,411 (GRCm39)	Y1024C	probably damaging	Het
Atp2b3	T	G	X: 72,588,712 (GRCm39)	V701G	probably damaging	Het
Cbfa2t2	T	A	2: 154,342,347 (GRCm39)	M21K	probably damaging	Het
Cdc25a	C	T	9: 109,710,614 (GRCm39)	T106I	possibly damaging	Het
Cdhr5	T	C	7: 140,852,083 (GRCm39)	T190A	probably damaging	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Clcn6	T	C	4: 148,097,226 (GRCm39)	T614A	possibly damaging	Het
Cntln	A	T	4: 84,865,823 (GRCm39)	R160*	probably null	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dock3	C	A	9: 106,815,158 (GRCm39)	M1236I	possibly damaging	Het
Eif4g3	T	A	4: 137,847,719 (GRCm39)	H213Q	probably damaging	Het
Eya1	T	A	1: 14,279,141 (GRCm39)	H372L	probably damaging	Het
Fam13b	A	G	18: 34,630,485 (GRCm39)	V91A	possibly damaging	Het
Hat1	T	A	2: 71,264,519 (GRCm39)	I319K	probably benign	Het
Kcnf1	T	C	12: 17,225,853 (GRCm39)	N123D	probably benign	Het
Kcns3	C	A	12: 11,141,551 (GRCm39)	G383W	probably damaging	Het
Kprp	A	T	3: 92,732,689 (GRCm39)	C120*	probably null	Het
Lama3	T	A	18: 12,672,774 (GRCm39)	C2456S	probably damaging	Het
Lrp1b	A	T	2: 41,366,658 (GRCm39)	D539E	probably damaging	Het
Matn3	T	C	12: 9,005,466 (GRCm39)	L292S	probably damaging	Het
Mbd3l1	T	A	9: 18,395,947 (GRCm39)	I24N	probably damaging	Het
Med10	T	C	13: 69,958,159 (GRCm39)	L37P	probably damaging	Het
Mrc1	A	T	2: 14,313,544 (GRCm39)	H925L	probably damaging	Het
Myo15a	T	A	11: 60,409,290 (GRCm39)	I3219N	probably damaging	Het
Nom1	C	T	5: 29,647,633 (GRCm39)	Q623*	probably null	Het
Nrm	T	A	17: 36,175,079 (GRCm39)	W136R	probably damaging	Het
Pde7b	T	C	10: 20,288,836 (GRCm39)	N298S	probably benign	Het
Piezo2	C	T	18: 63,277,990 (GRCm39)	A305T	possibly damaging	Het
Pimreg	T	C	11: 71,936,042 (GRCm39)	L175P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,390,237 (GRCm39)	D1451G	probably benign	Het
Ptpro	A	G	6: 137,355,128 (GRCm39)	S212G	probably benign	Het
Rhpn1	C	T	15: 75,585,967 (GRCm39)	R627C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnase4	T	G	14: 51,342,497 (GRCm39)	F74V	probably damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Selp	T	C	1: 163,954,176 (GRCm39)	Y159H	probably damaging	Het
Senp6	A	G	9: 80,000,853 (GRCm39)	T21A	probably damaging	Het
Slco1a7	A	T	6: 141,700,135 (GRCm39)	C132*	probably null	Het
Slco3a1	T	C	7: 74,154,128 (GRCm39)	D148G	possibly damaging	Het
Smtn	G	A	11: 3,480,102 (GRCm39)	P373L	probably benign	Het
Snx20	A	T	8: 89,356,597 (GRCm39)	L73Q	probably damaging	Het
Sobp	A	G	10: 43,033,942 (GRCm39)	V128A	possibly damaging	Het
Tcerg1	A	G	18: 42,657,357 (GRCm39)	T280A	unknown	Het
Tgfbrap1	A	G	1: 43,088,973 (GRCm39)	V810A	probably benign	Het
Thbs1	C	A	2: 117,949,678 (GRCm39)	D589E	probably damaging	Het
Tjp2	A	G	19: 24,078,239 (GRCm39)	Y885H	probably damaging	Het
Tmem109	A	G	19: 10,849,993 (GRCm39)	S100P	probably damaging	Het
Trim36	T	C	18: 46,305,562 (GRCm39)	K462E	probably benign	Het
Vmn1r226	A	T	17: 20,908,538 (GRCm39)	I257F	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Wdcp	T	A	12: 4,901,924 (GRCm39)	Y593*	probably null	Het
Wdr59	T	C	8: 112,177,682 (GRCm39)	S907G	probably damaging	Het

Other mutations in Or8h8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Or8h8	APN	2	86,753,293 (GRCm39)	missense	probably benign
IGL02547:Or8h8	APN	2	86,753,372 (GRCm39)	missense	probably damaging	1.00
IGL02881:Or8h8	APN	2	86,753,057 (GRCm39)	missense	possibly damaging	0.94
IGL03073:Or8h8	APN	2	86,753,697 (GRCm39)	missense	probably damaging	1.00
R0117:Or8h8	UTSW	2	86,753,214 (GRCm39)	missense	probably damaging	1.00
R0808:Or8h8	UTSW	2	86,753,795 (GRCm39)	missense	probably damaging	1.00
R1061:Or8h8	UTSW	2	86,753,126 (GRCm39)	missense	possibly damaging	0.93
R1471:Or8h8	UTSW	2	86,752,922 (GRCm39)	splice site	probably null
R1680:Or8h8	UTSW	2	86,753,505 (GRCm39)	missense	probably benign	0.10
R2341:Or8h8	UTSW	2	86,752,982 (GRCm39)	missense	possibly damaging	0.63
R2368:Or8h8	UTSW	2	86,753,451 (GRCm39)	missense	probably benign
R3158:Or8h8	UTSW	2	86,752,950 (GRCm39)	missense	probably benign
R3425:Or8h8	UTSW	2	86,752,950 (GRCm39)	missense	probably benign
R3499:Or8h8	UTSW	2	86,753,373 (GRCm39)	missense	possibly damaging	0.94
R4156:Or8h8	UTSW	2	86,753,222 (GRCm39)	missense	probably damaging	1.00
R4526:Or8h8	UTSW	2	86,753,339 (GRCm39)	missense	possibly damaging	0.90
R5743:Or8h8	UTSW	2	86,753,549 (GRCm39)	missense	probably benign	0.01
R5942:Or8h8	UTSW	2	86,753,750 (GRCm39)	missense	probably damaging	1.00
R6372:Or8h8	UTSW	2	86,753,499 (GRCm39)	missense	probably damaging	1.00
R6409:Or8h8	UTSW	2	86,753,515 (GRCm39)	nonsense	probably null
R6517:Or8h8	UTSW	2	86,753,441 (GRCm39)	missense	probably benign	0.05
R6661:Or8h8	UTSW	2	86,753,492 (GRCm39)	missense	probably benign	0.02
R7075:Or8h8	UTSW	2	86,752,990 (GRCm39)	missense	possibly damaging	0.88
R7166:Or8h8	UTSW	2	86,753,092 (GRCm39)	missense	probably damaging	0.97
R8058:Or8h8	UTSW	2	86,753,151 (GRCm39)	missense	probably benign	0.32
R8234:Or8h8	UTSW	2	86,753,313 (GRCm39)	missense	probably damaging	1.00
R9115:Or8h8	UTSW	2	86,752,998 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTGAAGCATCCCATGAAGGAA -3'
(R):5'- GGGGCCAAAATCTTATCATGTACTCATGAA -3'

Sequencing Primer
(F):5'- TATGGAGGTCAGCGTATTCTGTAAG -3'
(R):5'- CTCATGAACTCAACTGTAATACTTCC -3'

Posted On

2014-05-09