Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Or7g17'

376247

Institutional Source

Beutler Lab

Gene Symbol

Or7g17

Ensembl Gene

ENSMUSG00000051414

Gene Name

olfactory receptor family 7 subfamily G member 17

Synonyms

Olfr829, GA_x6K02T2PVTD-12599710-12600648, MOR147-1

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18767923-18768888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18768862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 305 (I305F)

Ref Sequence

ENSEMBL: ENSMUSP00000148395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058411] [ENSMUST00000212229]

AlphaFold

Q8VGX1

Predicted Effect

probably benign
Transcript: ENSMUST00000058411
AA Change: I314F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058101
Gene: ENSMUSG00000051414
AA Change: I314F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	317	2e-52	PFAM
Pfam:7TM_GPCR_Srsx	44	174	1e-10	PFAM
Pfam:7tm_1	50	299	1.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212229
AA Change: I305F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,415,975 (GRCm39)	T209A	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	Het

Other mutations in Or7g17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Or7g17	APN	9	18,768,830 (GRCm39)	missense	probably damaging	0.97
IGL01696:Or7g17	APN	9	18,768,352 (GRCm39)	missense	probably benign	0.19
IGL02285:Or7g17	APN	9	18,768,286 (GRCm39)	missense	possibly damaging	0.87
R0133:Or7g17	UTSW	9	18,767,925 (GRCm39)	start codon destroyed	probably null
R0173:Or7g17	UTSW	9	18,768,325 (GRCm39)	missense	probably damaging	0.98
R0270:Or7g17	UTSW	9	18,768,127 (GRCm39)	missense	probably damaging	1.00
R0449:Or7g17	UTSW	9	18,767,945 (GRCm39)	missense	probably benign	0.00
R1111:Or7g17	UTSW	9	18,768,888 (GRCm39)	makesense	probably null
R1462:Or7g17	UTSW	9	18,768,407 (GRCm39)	missense	probably benign	0.30
R1462:Or7g17	UTSW	9	18,768,407 (GRCm39)	missense	probably benign	0.30
R1845:Or7g17	UTSW	9	18,768,782 (GRCm39)	missense	possibly damaging	0.95
R4090:Or7g17	UTSW	9	18,768,398 (GRCm39)	missense	probably benign	0.00
R4096:Or7g17	UTSW	9	18,767,933 (GRCm39)	missense	probably benign
R4097:Or7g17	UTSW	9	18,767,933 (GRCm39)	missense	probably benign
R4755:Or7g17	UTSW	9	18,768,476 (GRCm39)	missense	probably benign	0.03
R5084:Or7g17	UTSW	9	18,768,632 (GRCm39)	missense	probably benign	0.43
R7216:Or7g17	UTSW	9	18,768,632 (GRCm39)	missense	probably benign	0.43
R7252:Or7g17	UTSW	9	18,768,548 (GRCm39)	missense	probably damaging	1.00
R7300:Or7g17	UTSW	9	18,768,530 (GRCm39)	missense	not run
R7412:Or7g17	UTSW	9	18,768,085 (GRCm39)	missense	possibly damaging	0.51
R8079:Or7g17	UTSW	9	18,768,725 (GRCm39)	missense	possibly damaging	0.54
R9083:Or7g17	UTSW	9	18,768,550 (GRCm39)	missense	probably benign	0.00
R9648:Or7g17	UTSW	9	18,768,748 (GRCm39)	missense	possibly damaging	0.84
X0024:Or7g17	UTSW	9	18,768,320 (GRCm39)	missense	probably damaging	1.00
X0057:Or7g17	UTSW	9	18,767,933 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGGTCTCATCTGTCAGTTG -3'
(R):5'- ATGTGCCTACCCTTCAGAAAC -3'

Sequencing Primer
(F):5'- CGGGTCTCATCTGTCAGTTGTTTTC -3'
(R):5'- GTGCCTACCCTTCAGAAACTTGATG -3'

Posted On

2016-03-17