Mutagenetix > Incidental Mutation

Incidental Mutation 'R5193:Or5w17'

399807

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

042769-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R5193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87583400-87584335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87583448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 296 (D296E)

Ref Sequence

ENSEMBL: ENSMUSP00000097433 (fasta)

Gene Model

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

AlphaFold

Q8VFQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099846
AA Change: D296E

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

SMART Domains

Protein: ENSMUSP00000097433
Gene: ENSMUSG00000075148
AA Change: D296E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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
Abhd12	A	T	2: 150,677,226 (GRCm39)	*56R	probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arfgap3	C	T	15: 83,216,898 (GRCm39)	A156T	probably benign	Het
Bpifc	T	C	10: 85,836,497 (GRCm39)	T3A	probably benign	Het
Ccdc7a	T	A	8: 129,715,278 (GRCm39)	I269L	probably benign	Het
Cd151	A	G	7: 141,050,606 (GRCm39)	Y253C	probably damaging	Het
Cenpl	C	A	1: 160,911,037 (GRCm39)	S328*	probably null	Het
Cfl1	T	A	19: 5,542,580 (GRCm39)	V20D	probably damaging	Het
Clec14a	A	G	12: 58,315,400 (GRCm39)	L74P	probably damaging	Het
Cnn1	A	T	9: 22,019,132 (GRCm39)	D196V	probably damaging	Het
Cst13	C	A	2: 148,670,143 (GRCm39)	C104*	probably null	Het
Det1	A	G	7: 78,493,302 (GRCm39)	V234A	probably damaging	Het
Efnb2	A	G	8: 8,673,162 (GRCm39)	M165T	probably damaging	Het
Fbxo10	T	A	4: 45,051,573 (GRCm39)	K339*	probably null	Het
Fnta	A	T	8: 26,501,246 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,813,338 (GRCm39)	Y3219F	possibly damaging	Het
Gprin2	C	T	14: 33,916,832 (GRCm39)	V313M	possibly damaging	Het
Hars1	A	G	18: 36,900,358 (GRCm39)	L448S	possibly damaging	Het
Hipk3	A	G	2: 104,260,345 (GRCm39)	I1166T	possibly damaging	Het
Il31ra	T	C	13: 112,660,864 (GRCm39)	E602G	probably benign	Het
Kctd15	A	G	7: 34,344,282 (GRCm39)	L123P	probably damaging	Het
Kifbp	T	C	10: 62,395,175 (GRCm39)	D489G	possibly damaging	Het
Krt1	C	A	15: 101,754,357 (GRCm39)	S631I	unknown	Het
Lancl1	T	A	1: 67,060,173 (GRCm39)	Y84F	probably benign	Het
Lcor	A	G	19: 41,570,969 (GRCm39)	D54G	probably damaging	Het
Mafa	G	T	15: 75,619,666 (GRCm39)	P36T	unknown	Het
Magi2	G	A	5: 20,563,970 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,492,134 (GRCm39)	I396F	probably damaging	Het
Mrgprh	T	C	17: 13,095,942 (GRCm39)	F61L	probably damaging	Het
Or10g1b	A	G	14: 52,628,069 (GRCm39)	W54R	probably benign	Het
Or1e16	TAGCGGTCGTA	T	11: 73,286,479 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or51a7	T	A	7: 102,615,143 (GRCm39)	F279I	possibly damaging	Het
Pcsk5	T	A	19: 17,542,174 (GRCm39)	T806S	possibly damaging	Het
Pigc	T	C	1: 161,798,465 (GRCm39)	I149T	possibly damaging	Het
Pou5f2	C	A	13: 78,173,083 (GRCm39)	N8K	probably benign	Het
Pou6f2	T	C	13: 18,300,129 (GRCm39)		probably benign	Het
Prl3d2	T	A	13: 27,306,312 (GRCm39)	M13K	possibly damaging	Het
Pzp	T	C	6: 128,479,297 (GRCm39)	N619D	probably benign	Het
Rnps1	G	A	17: 24,637,517 (GRCm39)	S53N	probably benign	Het
Scaf8	C	G	17: 3,240,440 (GRCm39)	A604G	probably benign	Het
Scn10a	T	C	9: 119,438,721 (GRCm39)	N1716S	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc34a1	A	G	13: 24,003,845 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,141,194 (GRCm39)	D6102G	probably damaging	Het
Tbc1d16	A	T	11: 119,049,646 (GRCm39)	D283E	probably benign	Het
Tet1	T	C	10: 62,674,026 (GRCm39)	D1350G	probably benign	Het
Trpa1	A	G	1: 14,946,141 (GRCm39)	Y997H	possibly damaging	Het
Tyro3	T	C	2: 119,640,998 (GRCm39)	L494P	probably damaging	Het
Uba6	G	T	5: 86,272,281 (GRCm39)	Q803K	probably benign	Het
Vgll2	T	A	10: 51,904,088 (GRCm39)	L317Q	possibly damaging	Het
Wdr62	A	T	7: 29,964,592 (GRCm39)	I384N	probably damaging	Het
Wdtc1	G	A	4: 133,021,678 (GRCm39)	R619*	probably null	Het
Xkr6	A	G	14: 64,056,356 (GRCm39)	D89G	possibly damaging	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
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
R6481:Or5w17	UTSW	2	87,583,812 (GRCm39)	missense	probably damaging	1.00
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'- ATGAGGTATGAAACATTGGAATGCC -3'
(R):5'- TTCTGCCAAGGGAAGGTTTAAAGC -3'

Sequencing Primer
(F):5'- GTTAACACAACTTTCCTAT -3'
(R):5'- GGGAAGGTTTAAAGCTTTTTCCACC -3'

Posted On

2016-07-06