Mutagenetix > Incidental Mutation

Incidental Mutation 'R8125:Or4g17'

631686

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

067554-MU

Accession Numbers

Essential gene?

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

Stock #

R8125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111209347-111210282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111210086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000052153 (fasta)

Gene Model

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

AlphaFold

Q8VF29

Predicted Effect

probably damaging
Transcript: ENSMUST00000062407
AA Change: V247A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: V247A

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

probably damaging
Transcript: ENSMUST00000209096
AA Change: V247A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,608,709 (GRCm39)	T143K	probably benign	Het
4933434E20Rik	T	A	3: 89,972,818 (GRCm39)	V74D	possibly damaging	Het
Acot11	C	T	4: 106,617,277 (GRCm39)		probably null	Het
Adam20	A	T	8: 41,247,973 (GRCm39)	I28L	probably benign	Het
Adamtsl3	A	G	7: 82,099,541 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	C	T	19: 8,989,240 (GRCm39)	A3508V	possibly damaging	Het
Arhgap20	T	C	9: 51,738,209 (GRCm39)	I235T	probably damaging	Het
B4galnt3	T	C	6: 120,201,554 (GRCm39)	T164A	probably damaging	Het
Brip1	A	G	11: 86,077,817 (GRCm39)	S204P	possibly damaging	Het
Ccdc185	C	A	1: 182,574,835 (GRCm39)	S618I	probably benign	Het
Ckap5	T	A	2: 91,406,614 (GRCm39)	I805K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cmtm2a	A	T	8: 105,019,343 (GRCm39)	I82N	probably damaging	Het
Corin	T	A	5: 72,515,806 (GRCm39)	H416L	probably damaging	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Cygb	T	A	11: 116,540,116 (GRCm39)	T178S	probably benign	Het
Dchs1	T	C	7: 105,414,089 (GRCm39)	T909A	possibly damaging	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Dmbt1	A	G	7: 130,700,953 (GRCm39)	T1218A	unknown	Het
Ebf1	T	C	11: 44,863,742 (GRCm39)	I364T	probably damaging	Het
Efcab10	C	A	12: 33,448,313 (GRCm39)	R49S	probably damaging	Het
Eif2b1	G	A	5: 124,717,162 (GRCm39)		probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gm49358	T	A	10: 86,656,857 (GRCm39)	F273Y		Het
Gria2	T	A	3: 80,614,550 (GRCm39)	I497F	possibly damaging	Het
Ipo9	T	C	1: 135,331,078 (GRCm39)	T426A	probably benign	Het
Klhl11	T	C	11: 100,354,811 (GRCm39)	I337V	probably benign	Het
Krtap19-5	A	T	16: 88,693,236 (GRCm39)	Y25*	probably null	Het
Lamb2	T	G	9: 108,364,722 (GRCm39)	S1159A	probably benign	Het
Mpig6b	A	T	17: 35,284,328 (GRCm39)	L154Q	probably damaging	Het
Mrpl28	T	C	17: 26,343,594 (GRCm39)	I118T	probably damaging	Het
Msh3	A	T	13: 92,435,690 (GRCm39)	N536K	probably benign	Het
Mtcl3	T	C	10: 29,072,894 (GRCm39)	S729P	probably damaging	Het
Myh8	A	G	11: 67,190,598 (GRCm39)	K1308E	possibly damaging	Het
Nav3	C	A	10: 109,688,520 (GRCm39)	G586W	probably damaging	Het
Ncoa7	T	C	10: 30,570,087 (GRCm39)	K291E	possibly damaging	Het
Nr5a1	C	T	2: 38,591,993 (GRCm39)	V327I	probably damaging	Het
Nup85	TACAAGACAA	TACAA	11: 115,469,063 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,590,935 (GRCm39)	H125Q	probably benign	Het
Or4f4-ps1	A	T	2: 111,330,332 (GRCm39)	D245V	possibly damaging	Het
Pard3b	T	C	1: 61,807,143 (GRCm39)	Y53H	probably damaging	Het
Pcyox1l	G	A	18: 61,840,576 (GRCm39)	P26L	unknown	Het
Pdzrn4	A	G	15: 92,641,476 (GRCm39)	S391G	probably damaging	Het
Pfn4	T	A	12: 4,825,487 (GRCm39)	M108K	probably damaging	Het
Pibf1	C	T	14: 99,416,803 (GRCm39)	Q459*	probably null	Het
Pkd1l1	C	T	11: 8,897,241 (GRCm39)	C556Y	probably damaging	Het
Plin1	A	G	7: 79,379,599 (GRCm39)	F84L	possibly damaging	Het
Rasa3	A	G	8: 13,627,801 (GRCm39)		probably null	Het
Sdc1	G	A	12: 8,840,663 (GRCm39)	V143I	probably benign	Het
Skic3	T	C	13: 76,278,446 (GRCm39)		probably null	Het
Skor2	C	A	18: 76,947,373 (GRCm39)	A365E	unknown	Het
Slc16a7	A	G	10: 125,164,202 (GRCm39)		probably null	Het
Slc25a31	T	A	3: 40,663,573 (GRCm39)	V51E	probably damaging	Het
Slc6a6	C	A	6: 91,703,087 (GRCm39)	F153L	probably damaging	Het
Snx7	T	A	3: 117,630,894 (GRCm39)	K238M	probably damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
Spata31f3	A	G	4: 42,873,051 (GRCm39)	L80P	probably damaging	Het
Sphkap	T	G	1: 83,241,303 (GRCm39)	Q1587P	probably damaging	Het
Tcte1	T	C	17: 45,850,618 (GRCm39)	I298T	possibly damaging	Het
Tmem247	A	G	17: 87,229,795 (GRCm39)	Y120C		Het
Togaram2	C	G	17: 72,023,489 (GRCm39)	L802V	probably benign	Het
Trim32	T	C	4: 65,532,199 (GRCm39)	V252A	probably benign	Het
Ube2q2l	T	G	6: 136,378,184 (GRCm39)	R215S	possibly damaging	Het
Vat1	T	C	11: 101,351,029 (GRCm39)	K404R	probably benign	Het
Xirp2	C	A	2: 67,342,379 (GRCm39)	T1540K	probably benign	Het
Zc2hc1c	C	T	12: 85,343,386 (GRCm39)	H508Y	probably damaging	Het
Zfp407	A	T	18: 84,579,310 (GRCm39)	M601K	probably damaging	Het
Zfp951	A	T	5: 104,963,169 (GRCm39)	Y132*	probably null	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
R5309:Or4g17	UTSW	2	111,210,179 (GRCm39)	missense	possibly damaging	0.52
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
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'- TGGACAGCTTTTACTGCGAC -3'
(R):5'- TGTAACATCTCTGCTTGCTCAG -3'

Sequencing Primer
(F):5'- TACAACTGGCATGCACGG -3'
(R):5'- GTGACAGCAAAGTCAACAAT -3'

Posted On

2020-06-30