Mutagenetix > Incidental Mutation

Incidental Mutation 'R5309:Or4g17'

404692

Institutional Source

Beutler Lab

Gene Symbol

Or4g17

Ensembl Gene

ENSMUSG00000108931

Gene Name

olfactory receptor family 4 subfamily G member 17

Synonyms

GA_x6K02T2Q125-72430580-72431515, MOR245-13, Olfr1284

MMRRC Submission

042892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R5309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111209347-111210282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111210179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 278 (V278A)

Ref Sequence

ENSEMBL: ENSMUSP00000147014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062407] [ENSMUST00000209096]

AlphaFold

Q8VF29

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062407
AA Change: V278A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: V278A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	7.2e-45	PFAM
Pfam:7TM_GPCR_Srsx	34	302	2.4e-5	PFAM
Pfam:7tm_1	41	287	2e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209096
AA Change: V278A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (68/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,540 (GRCm39)	Q72R	unknown	Het
Abca15	T	C	7: 119,944,592 (GRCm39)	V409A	probably damaging	Het
Abcg3	A	C	5: 105,084,465 (GRCm39)	C577G	possibly damaging	Het
Adamtsl5	A	T	10: 80,180,982 (GRCm39)		probably benign	Het
Adgrg3	G	A	8: 95,766,492 (GRCm39)	V388I	probably benign	Het
Ank2	T	C	3: 126,753,417 (GRCm39)	Q288R	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdh3	A	G	8: 107,265,652 (GRCm39)	T232A	probably damaging	Het
Cfap210	T	C	2: 69,617,602 (GRCm39)	T60A	possibly damaging	Het
Cntnap5c	A	T	17: 58,666,249 (GRCm39)	E1093V	probably benign	Het
Cplx3	A	T	9: 57,518,360 (GRCm39)	L343Q	probably damaging	Het
Cwh43	A	G	5: 73,574,110 (GRCm39)	H258R	probably benign	Het
Cyp2j6	T	A	4: 96,423,793 (GRCm39)	I192F	probably damaging	Het
Dnaaf5	T	A	5: 139,138,617 (GRCm39)	V266E	probably damaging	Het
Egfr	G	A	11: 16,861,703 (GRCm39)	G1161S	probably benign	Het
Ehmt1	A	G	2: 24,774,207 (GRCm39)	V201A	probably damaging	Het
Exoc7	C	A	11: 116,195,853 (GRCm39)	E28*	probably null	Het
Fam118a	C	T	15: 84,934,956 (GRCm39)	T195M	probably damaging	Het
Fancg	A	G	4: 43,003,019 (GRCm39)	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036 (GRCm39)	I731N	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gnal	G	A	18: 67,346,178 (GRCm39)	R219K	possibly damaging	Het
Helz2	T	A	2: 180,876,639 (GRCm39)	E1285V	probably benign	Het
Ighv1-74	A	G	12: 115,766,501 (GRCm39)	S39P	probably damaging	Het
Ipo11	T	C	13: 106,970,481 (GRCm39)		probably benign	Het
Klc1	A	G	12: 111,762,055 (GRCm39)	K575R	possibly damaging	Het
Larp1	T	C	11: 57,941,634 (GRCm39)	V689A	possibly damaging	Het
Mki67	A	T	7: 135,302,559 (GRCm39)	V825E	probably damaging	Het
Mmp9	T	A	2: 164,792,715 (GRCm39)		probably benign	Het
Myog	A	G	1: 134,218,064 (GRCm39)	K91E	probably damaging	Het
Nfil3	A	T	13: 53,121,656 (GRCm39)	V416E	probably damaging	Het
Nup160	G	T	2: 90,563,176 (GRCm39)	E1314*	probably null	Het
Or4k35	T	G	2: 111,100,655 (GRCm39)	D19A	probably benign	Het
Or6c66b	A	C	10: 129,377,134 (GRCm39)	M243L	probably benign	Het
Or6c75	T	A	10: 129,337,383 (GRCm39)	V210E	probably damaging	Het
Osbpl8	T	A	10: 111,106,418 (GRCm39)	V275E	probably benign	Het
Osbpl9	A	G	4: 108,923,352 (GRCm39)	S520P	probably damaging	Het
Ppp4r4	T	A	12: 103,573,147 (GRCm39)		probably null	Het
Proz	T	C	8: 13,111,049 (GRCm39)	L7P	probably damaging	Het
Ptpn13	G	A	5: 103,688,919 (GRCm39)	S904N	probably damaging	Het
Rap1gds1	A	G	3: 138,664,389 (GRCm39)	L322P	probably damaging	Het
Rnf5	A	G	17: 34,820,562 (GRCm39)	F175S	probably benign	Het
Sema4a	G	A	3: 88,344,343 (GRCm39)	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,676,708 (GRCm39)	D193G	probably damaging	Het
Shoc2	T	C	19: 53,976,164 (GRCm39)	V18A	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc10a6	A	T	5: 103,756,958 (GRCm39)	C269S	probably damaging	Het
Slc34a2	A	G	5: 53,226,830 (GRCm39)	E651G	probably damaging	Het
Snx13	C	T	12: 35,194,324 (GRCm39)	Q956*	probably null	Het
Spg21	A	G	9: 65,376,084 (GRCm39)	I31V	probably benign	Het
Srpk2	T	C	5: 23,730,716 (GRCm39)	K268E	probably damaging	Het
Supt16	T	C	14: 52,400,155 (GRCm39)	E996G	probably damaging	Het
Syf2	A	G	4: 134,663,380 (GRCm39)	D184G	probably benign	Het
Tmem45a2	T	C	16: 56,859,370 (GRCm39)	D287G	possibly damaging	Het
Utrn	A	T	10: 12,603,513 (GRCm39)	D627E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,880 (GRCm39)	I94N	probably damaging	Het
Vmn2r103	A	T	17: 20,013,296 (GRCm39)	N139I	probably benign	Het
Vmn2r15	T	A	5: 109,440,956 (GRCm39)	I301F	probably damaging	Het
Vps35l	T	C	7: 118,412,799 (GRCm39)	I629T	probably damaging	Het
Zfp949	A	C	9: 88,449,236 (GRCm39)	T14P	possibly damaging	Het

Other mutations in Or4g17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03024:Or4g17	APN	2	111,209,935 (GRCm39)	missense	possibly damaging	0.94
R0526:Or4g17	UTSW	2	111,209,837 (GRCm39)	missense	possibly damaging	0.95
R0731:Or4g17	UTSW	2	111,209,638 (GRCm39)	missense	probably damaging	0.99
R1762:Or4g17	UTSW	2	111,209,918 (GRCm39)	missense	probably damaging	0.99
R1765:Or4g17	UTSW	2	111,209,491 (GRCm39)	missense	probably benign	0.39
R3106:Or4g17	UTSW	2	111,209,840 (GRCm39)	missense	probably benign	0.23
R3803:Or4g17	UTSW	2	111,209,638 (GRCm39)	missense	possibly damaging	0.95
R3894:Or4g17	UTSW	2	111,209,982 (GRCm39)	missense	probably benign	0.09
R4005:Or4g17	UTSW	2	111,210,088 (GRCm39)	missense	probably benign	0.05
R4227:Or4g17	UTSW	2	111,209,410 (GRCm39)	missense	probably benign
R4637:Or4g17	UTSW	2	111,209,927 (GRCm39)	missense	probably benign	0.03
R4707:Or4g17	UTSW	2	111,209,990 (GRCm39)	missense	probably damaging	1.00
R4762:Or4g17	UTSW	2	111,210,082 (GRCm39)	missense	probably damaging	1.00
R5150:Or4g17	UTSW	2	111,209,598 (GRCm39)	missense	probably damaging	1.00
R5312:Or4g17	UTSW	2	111,210,179 (GRCm39)	missense	possibly damaging	0.52
R6554:Or4g17	UTSW	2	111,209,504 (GRCm39)	missense	possibly damaging	0.95
R6913:Or4g17	UTSW	2	111,209,347 (GRCm39)	start codon destroyed	probably null	0.03
R6980:Or4g17	UTSW	2	111,209,620 (GRCm39)	missense	possibly damaging	0.77
R6995:Or4g17	UTSW	2	111,209,708 (GRCm39)	missense	probably damaging	1.00
R7168:Or4g17	UTSW	2	111,210,224 (GRCm39)	missense	probably damaging	1.00
R7332:Or4g17	UTSW	2	111,209,738 (GRCm39)	missense	not run
R7464:Or4g17	UTSW	2	111,209,543 (GRCm39)	missense	probably damaging	1.00
R8125:Or4g17	UTSW	2	111,210,086 (GRCm39)	missense	probably damaging	0.99
R8963:Or4g17	UTSW	2	111,209,645 (GRCm39)	missense	probably damaging	1.00
R9660:Or4g17	UTSW	2	111,210,239 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTGGCTTCATGACCTTGGG -3'
(R):5'- CCTGAACAACATGTTAACTGGAGATG -3'

Sequencing Primer
(F):5'- TATGTCTTCATTTTGGTCACAGTCTG -3'
(R):5'- TTAACTGGAGATGTCAAATAGTCAGG -3'

Posted On

2016-07-22