Mutagenetix > Incidental Mutation

Incidental Mutation 'R5219:Or8g34'

402227

Institutional Source

Beutler Lab

Gene Symbol

Or8g34

Ensembl Gene

ENSMUSG00000094745

Gene Name

olfactory receptor family 8 subfamily G member 34

Synonyms

GA_x6K02T2PVTD-33158015-33158950, MOR171-42, Olfr954, MOR171-53

MMRRC Submission

042792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39372729-39373673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39373563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 276 (V276L)

Ref Sequence

ENSEMBL: ENSMUSP00000151116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080329] [ENSMUST00000214818]

AlphaFold

Q9EQB6

Predicted Effect

probably benign
Transcript: ENSMUST00000080329
AA Change: V279L

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000079205
Gene: ENSMUSG00000094745
AA Change: V279L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.6e-52	PFAM
Pfam:7TM_GPCR_Srsx	38	264	3e-5	PFAM
Pfam:7tm_1	44	293	1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214818
AA Change: V276L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219910

Meta Mutation Damage Score

0.0943

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700063H04Rik	A	G	6: 122,369,299 (GRCm39)		noncoding transcript	Het
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
A2m	A	G	6: 121,653,909 (GRCm39)	H1414R	possibly damaging	Het
A530064D06Rik	G	T	17: 48,470,518 (GRCm39)	D154E	possibly damaging	Het
Adam34	C	T	8: 44,104,461 (GRCm39)	D395N	probably benign	Het
Agl	A	G	3: 116,572,370 (GRCm39)	V195A	possibly damaging	Het
Aip	T	C	19: 4,165,180 (GRCm39)	I230V	probably benign	Het
Akap10	A	C	11: 61,813,617 (GRCm39)	S43A	probably benign	Het
Ap3d1	T	C	10: 80,545,651 (GRCm39)	E1026G	probably benign	Het
Arid5b	T	A	10: 68,113,940 (GRCm39)	K32N	probably benign	Het
Atp6v0a2	C	A	5: 124,790,249 (GRCm39)	N477K	probably damaging	Het
Atr	A	C	9: 95,763,291 (GRCm39)	I1062L	probably damaging	Het
Ces2h	T	C	8: 105,743,278 (GRCm39)	V171A	probably damaging	Het
Cnot2	A	G	10: 116,342,215 (GRCm39)		probably null	Het
Cpne3	A	T	4: 19,526,366 (GRCm39)	L391H	probably damaging	Het
Ctdp1	A	G	18: 80,490,675 (GRCm39)	L715P	probably damaging	Het
Dcxr	T	C	11: 120,616,314 (GRCm39)		probably benign	Het
Dhtkd1	C	T	2: 5,919,627 (GRCm39)	A585T	probably benign	Het
Elapor2	G	T	5: 9,511,486 (GRCm39)	W949C	probably damaging	Het
Fcgbp	G	A	7: 27,803,510 (GRCm39)	A1705T	probably damaging	Het
Galr1	A	T	18: 82,412,110 (GRCm39)	V252D	probably damaging	Het
Gm11677	A	G	11: 111,616,225 (GRCm39)		noncoding transcript	Het
Gp6	A	G	7: 4,371,998 (GRCm39)	V252A	possibly damaging	Het
Inpp4b	T	C	8: 82,610,785 (GRCm39)	V176A	probably benign	Het
Irx2	G	C	13: 72,779,420 (GRCm39)	A235P	probably damaging	Het
Klk1b11	G	A	7: 43,649,120 (GRCm39)	C219Y	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lars1	A	T	18: 42,367,785 (GRCm39)	V431E	probably benign	Het
Lmntd2	T	C	7: 140,791,387 (GRCm39)		probably null	Het
Ltbp4	A	T	7: 27,026,746 (GRCm39)	W500R	probably benign	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Nadk	A	G	4: 155,668,711 (GRCm39)	I127M	probably benign	Het
Nxph1	T	A	6: 9,247,765 (GRCm39)	Y245*	probably null	Het
Or4a73	C	T	2: 89,421,046 (GRCm39)	V138I	probably benign	Het
Or7s1a-ps1	T	C	9: 18,843,990 (GRCm39)		probably benign	Het
Or9k7	T	A	10: 130,046,793 (GRCm39)	T69S	possibly damaging	Het
Orc1	T	C	4: 108,447,966 (GRCm39)	F71S	probably damaging	Het
Pccb	A	T	9: 100,867,262 (GRCm39)	Y404*	probably null	Het
Pde2a	A	C	7: 101,153,811 (GRCm39)	I460L	probably damaging	Het
Ppp3cb	G	T	14: 20,578,263 (GRCm39)	C162*	probably null	Het
Prickle2	T	C	6: 92,353,511 (GRCm39)	S652G	probably benign	Het
Prss38	A	G	11: 59,266,309 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,821,813 (GRCm39)		probably benign	Het
Rgp1	C	T	4: 43,579,440 (GRCm39)	A16V	probably damaging	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scnn1g	T	A	7: 121,365,489 (GRCm39)	Y514N	probably damaging	Het
Sephs1	A	G	2: 4,896,501 (GRCm39)	D134G	probably benign	Het
Slc38a3	A	G	9: 107,529,111 (GRCm39)		probably benign	Het
Slc6a1	A	T	6: 114,287,182 (GRCm39)	M388L	probably benign	Het
Ssbp3	A	T	4: 106,904,655 (GRCm39)	N350I	probably damaging	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Sult1e1	A	T	5: 87,726,445 (GRCm39)	I223N	probably damaging	Het
Tcf20	C	A	15: 82,740,582 (GRCm39)	G290C	probably damaging	Het
Tekt2	G	T	4: 126,216,057 (GRCm39)	T412K	possibly damaging	Het
Trabd2b	A	G	4: 114,460,007 (GRCm39)	T382A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	C	A	4: 139,204,543 (GRCm39)	Y4818*	probably null	Het
Vmn1r204	A	T	13: 22,741,069 (GRCm39)	R233S	probably damaging	Het
Vmn1r86	A	G	7: 12,836,382 (GRCm39)	Y165H	probably damaging	Het
Yaf2	A	C	15: 93,183,355 (GRCm39)	C152G	probably benign	Het
Zfp804b	A	T	5: 6,820,703 (GRCm39)	F751I	probably benign	Het

Other mutations in Or8g34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02704:Or8g34	APN	9	39,373,579 (GRCm39)	missense	probably damaging	0.98
IGL02793:Or8g34	APN	9	39,372,802 (GRCm39)	missense	probably benign	0.09
IGL02964:Or8g34	APN	9	39,373,077 (GRCm39)	missense	possibly damaging	0.88
IGL02979:Or8g34	APN	9	39,372,819 (GRCm39)	missense	probably benign	0.02
R0041:Or8g34	UTSW	9	39,372,772 (GRCm39)	missense	probably benign	0.34
R0153:Or8g34	UTSW	9	39,372,967 (GRCm39)	missense	probably damaging	0.99
R0269:Or8g34	UTSW	9	39,373,090 (GRCm39)	missense	probably damaging	1.00
R0426:Or8g34	UTSW	9	39,372,889 (GRCm39)	missense	probably damaging	1.00
R0731:Or8g34	UTSW	9	39,372,828 (GRCm39)	missense	probably damaging	1.00
R1800:Or8g34	UTSW	9	39,373,410 (GRCm39)	missense	probably damaging	1.00
R2340:Or8g34	UTSW	9	39,373,105 (GRCm39)	missense	probably damaging	1.00
R2901:Or8g34	UTSW	9	39,373,234 (GRCm39)	missense	probably damaging	0.97
R2912:Or8g34	UTSW	9	39,373,512 (GRCm39)	missense	probably damaging	1.00
R2939:Or8g34	UTSW	9	39,373,226 (GRCm39)	missense	probably benign	0.02
R2940:Or8g34	UTSW	9	39,373,226 (GRCm39)	missense	probably benign	0.02
R3081:Or8g34	UTSW	9	39,373,226 (GRCm39)	missense	probably benign	0.02
R3765:Or8g34	UTSW	9	39,372,920 (GRCm39)	nonsense	probably null
R4450:Or8g34	UTSW	9	39,373,328 (GRCm39)	missense	probably benign	0.00
R4515:Or8g34	UTSW	9	39,373,527 (GRCm39)	nonsense	probably null
R4786:Or8g34	UTSW	9	39,373,137 (GRCm39)	missense	probably benign	0.16
R4961:Or8g34	UTSW	9	39,373,183 (GRCm39)	missense	probably damaging	1.00
R5602:Or8g34	UTSW	9	39,373,326 (GRCm39)	missense	probably benign	0.00
R5887:Or8g34	UTSW	9	39,372,787 (GRCm39)	missense	probably damaging	1.00
R5950:Or8g34	UTSW	9	39,373,633 (GRCm39)	missense	probably benign	0.01
R6943:Or8g34	UTSW	9	39,373,159 (GRCm39)	missense	probably benign	0.05
R7567:Or8g34	UTSW	9	39,373,173 (GRCm39)	missense	possibly damaging	0.92
R8817:Or8g34	UTSW	9	39,373,387 (GRCm39)	missense	probably damaging	1.00
R9251:Or8g34	UTSW	9	39,373,668 (GRCm39)	missense	probably benign
X0060:Or8g34	UTSW	9	39,373,570 (GRCm39)	missense	probably damaging	1.00
Z1177:Or8g34	UTSW	9	39,372,997 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCCCAATGCTGACCATTATTAC -3'
(R):5'- TACCAAAGGTCCTAGCAAATGAG -3'

Sequencing Primer
(F):5'- CAATGCTGACCATTATTACTTCCTAC -3'
(R):5'- CTACACATGACTTCTGCTTAC -3'

Posted On

2016-07-22