Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Or5w17'

517075

Institutional Source

Beutler Lab

Gene Symbol

Or5w17

Ensembl Gene

ENSMUSG00000075148

Gene Name

olfactory receptor family 5 subfamily W member 17, pseudogene 1

Synonyms

Olfr1141, GA_x6K02T2Q125-49257818-49256883, MOR177-10

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87583400-87584335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87583812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 175 (N175S)

Ref Sequence

ENSEMBL: ENSMUSP00000097433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099846]

AlphaFold

Q8VFQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099846
AA Change: N175S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097433
Gene: ENSMUSG00000075148
AA Change: N175S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.8e-28	PFAM
Pfam:7tm_1	41	290	1.5e-6	PFAM

Meta Mutation Damage Score

0.4724

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgap26	T	A	18: 39,283,110 (GRCm39)	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Coch	T	C	12: 51,644,956 (GRCm39)	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,242,487 (GRCm39)	L241P	probably damaging	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fbxo4	A	G	15: 3,995,216 (GRCm39)	L376P	probably damaging	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Lonp2	G	T	8: 87,361,536 (GRCm39)	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Plcd3	T	C	11: 102,968,593 (GRCm39)	Y366C	probably damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Soat2	T	A	15: 102,070,490 (GRCm39)	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (GRCm39)		probably null	Het

Other mutations in Or5w17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Or5w17	APN	2	87,584,278 (GRCm39)	missense	probably benign	0.00
IGL01412:Or5w17	APN	2	87,583,461 (GRCm39)	missense	probably damaging	1.00
IGL01533:Or5w17	APN	2	87,583,412 (GRCm39)	missense	probably benign	0.01
IGL02455:Or5w17	APN	2	87,583,927 (GRCm39)	missense	possibly damaging	0.95
IGL02698:Or5w17	APN	2	87,584,188 (GRCm39)	nonsense	probably null
PIT4480001:Or5w17	UTSW	2	87,584,127 (GRCm39)	missense	possibly damaging	0.95
R0543:Or5w17	UTSW	2	87,583,994 (GRCm39)	missense	probably damaging	1.00
R1542:Or5w17	UTSW	2	87,583,662 (GRCm39)	missense	probably damaging	0.99
R1750:Or5w17	UTSW	2	87,583,530 (GRCm39)	missense	probably damaging	0.97
R1844:Or5w17	UTSW	2	87,584,334 (GRCm39)	start codon destroyed	probably null	1.00
R2248:Or5w17	UTSW	2	87,584,287 (GRCm39)	missense	probably null	0.05
R4064:Or5w17	UTSW	2	87,584,133 (GRCm39)	missense	probably damaging	1.00
R5193:Or5w17	UTSW	2	87,583,448 (GRCm39)	missense	possibly damaging	0.59
R5861:Or5w17	UTSW	2	87,583,922 (GRCm39)	missense	probably benign	0.01
R6146:Or5w17	UTSW	2	87,583,602 (GRCm39)	missense	probably damaging	1.00
R6197:Or5w17	UTSW	2	87,583,696 (GRCm39)	missense	probably benign	0.15
R6857:Or5w17	UTSW	2	87,583,831 (GRCm39)	missense	probably damaging	1.00
R6904:Or5w17	UTSW	2	87,584,223 (GRCm39)	missense	probably benign	0.00
R6962:Or5w17	UTSW	2	87,584,071 (GRCm39)	missense	probably benign
R7014:Or5w17	UTSW	2	87,584,215 (GRCm39)	missense	probably benign	0.00
R8229:Or5w17	UTSW	2	87,583,408 (GRCm39)	missense	probably benign	0.00
R8723:Or5w17	UTSW	2	87,583,501 (GRCm39)	missense	possibly damaging	0.69
R8883:Or5w17	UTSW	2	87,583,838 (GRCm39)	missense	probably damaging	1.00
R9129:Or5w17	UTSW	2	87,584,048 (GRCm39)	missense	probably benign	0.00
R9587:Or5w17	UTSW	2	87,584,184 (GRCm39)	missense	possibly damaging	0.79
R9665:Or5w17	UTSW	2	87,583,671 (GRCm39)	missense	probably damaging	0.97
T0722:Or5w17	UTSW	2	87,583,467 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5w17	UTSW	2	87,583,534 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCAACAGCAGTCAGATGC -3'
(R):5'- GCAGTAATGGCCTTTGATCAG -3'

Sequencing Primer
(F):5'- TAAACCTTCCCTTGGCAGAATGG -3'
(R):5'- TTTGATCAGTACAAAGCCATAAGCC -3'

Posted On

2018-05-21