Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Or5w8'

58863

Institutional Source

Beutler Lab

Gene Symbol

Or5w8

Ensembl Gene

ENSMUSG00000047039

Gene Name

olfactory receptor family 5 subfamily W member 8

Synonyms

MOR177-9, Olfr1151, GA_x6K02T2Q125-49358694-49359620

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R0233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87687521-87688447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87688096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 192 (I192M)

Ref Sequence

ENSEMBL: ENSMUSP00000151107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061081] [ENSMUST00000217376]

AlphaFold

Q8VFQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000061081
AA Change: I192M

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000055394
Gene: ENSMUSG00000047039
AA Change: I192M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.6e-45	PFAM
Pfam:7tm_1	41	290	1.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217376
AA Change: I192M

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,031 (GRCm39)	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,966,606 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,565,397 (GRCm39)	N114S	probably damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,830,524 (GRCm39)	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,006,780 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Copa	T	C	1: 171,915,234 (GRCm39)		probably null	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,216 (GRCm39)	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fam13b	T	A	18: 34,581,137 (GRCm39)	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Foxp2	T	C	6: 15,409,752 (GRCm39)	S451P	probably damaging	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm9920	A	T	15: 54,975,857 (GRCm39)		probably benign	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
H2-T5	A	G	17: 36,478,361 (GRCm39)	Y224H	probably benign	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,942,473 (GRCm39)	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,532,372 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,828,100 (GRCm39)		probably null	Het
Kpna2	T	C	11: 106,883,457 (GRCm39)	S111G	probably benign	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Macf1	G	A	4: 123,343,920 (GRCm39)		probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Parl	G	A	16: 20,106,657 (GRCm39)	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Prg4	T	C	1: 150,329,298 (GRCm39)		probably benign	Het
Prkab1	A	G	5: 116,159,711 (GRCm39)		probably benign	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Sos2	A	T	12: 69,664,104 (GRCm39)	I460N	probably benign	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Sulf2	T	C	2: 165,927,589 (GRCm39)		probably benign	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,248,398 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,259,325 (GRCm39)	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	possibly damaging	Het

Other mutations in Or5w8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01755:Or5w8	APN	2	87,687,854 (GRCm39)	missense	possibly damaging	0.60
IGL02314:Or5w8	APN	2	87,688,400 (GRCm39)	missense	probably damaging	1.00
R0127:Or5w8	UTSW	2	87,687,827 (GRCm39)	missense	probably benign
R0233:Or5w8	UTSW	2	87,688,096 (GRCm39)	missense	probably benign	0.19
R0398:Or5w8	UTSW	2	87,688,401 (GRCm39)	missense	probably damaging	1.00
R1079:Or5w8	UTSW	2	87,687,699 (GRCm39)	missense	probably damaging	1.00
R1598:Or5w8	UTSW	2	87,688,095 (GRCm39)	missense	probably benign	0.01
R1965:Or5w8	UTSW	2	87,687,759 (GRCm39)	missense	probably benign	0.44
R3409:Or5w8	UTSW	2	87,688,005 (GRCm39)	nonsense	probably null
R4824:Or5w8	UTSW	2	87,687,621 (GRCm39)	missense	probably benign	0.24
R4962:Or5w8	UTSW	2	87,687,632 (GRCm39)	missense	probably benign	0.02
R4986:Or5w8	UTSW	2	87,687,858 (GRCm39)	missense	probably damaging	0.97
R5324:Or5w8	UTSW	2	87,688,040 (GRCm39)	missense	probably damaging	1.00
R5934:Or5w8	UTSW	2	87,687,585 (GRCm39)	missense	probably benign
R6335:Or5w8	UTSW	2	87,687,811 (GRCm39)	nonsense	probably null
R6389:Or5w8	UTSW	2	87,688,367 (GRCm39)	missense	probably damaging	1.00
R6958:Or5w8	UTSW	2	87,688,295 (GRCm39)	missense	probably damaging	1.00
R7329:Or5w8	UTSW	2	87,687,585 (GRCm39)	missense	probably benign
R8228:Or5w8	UTSW	2	87,688,284 (GRCm39)	missense	probably benign	0.12
R8506:Or5w8	UTSW	2	87,688,181 (GRCm39)	missense	probably damaging	1.00
R8726:Or5w8	UTSW	2	87,688,161 (GRCm39)	missense	probably benign	0.14
R8845:Or5w8	UTSW	2	87,687,545 (GRCm39)	missense	probably benign	0.00
R9548:Or5w8	UTSW	2	87,688,040 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5w8	UTSW	2	87,687,768 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AATGCTGGTGGATCTCTTAGCTGC -3'
(R):5'- AGTTCCCTGGAAAATGGCAACTGTG -3'

Sequencing Primer
(F):5'- TGATAGATACCAGGCCATTAGC -3'
(R):5'- ATGGCAACTGTGGTGAGATG -3'

Posted On

2013-07-11