Mutagenetix > Incidental Mutation

Incidental Mutation 'R7443:Or5h17'

577122

Institutional Source

Beutler Lab

Gene Symbol

Or5h17

Ensembl Gene

ENSMUSG00000062105

Gene Name

olfactory receptor family 5 subfamily H member 17

Synonyms

MOR183-2, Olfr183, GA_x54KRFPKG5P-55229158-55230087

MMRRC Submission

045519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58815720-58821804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58820353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 102 (F102I)

Ref Sequence

ENSEMBL: ENSMUSP00000080602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073320] [ENSMUST00000206303] [ENSMUST00000213465] [ENSMUST00000214831] [ENSMUST00000214916]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000073320
AA Change: F102I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: F102I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.7e-48	PFAM
Pfam:7tm_1	41	290	4.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206303
AA Change: F102I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213465
AA Change: F102I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214831
AA Change: F102I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214916
AA Change: F102I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,452,951 (GRCm39)	I162T	probably damaging	Het
Acaca	G	A	11: 84,206,619 (GRCm39)	S1493N	probably benign	Het
Arf2	T	A	11: 103,859,976 (GRCm39)	M18K	probably benign	Het
Bag5	A	G	12: 111,677,161 (GRCm39)	S221P	probably damaging	Het
Bcr	T	C	10: 74,978,968 (GRCm39)		probably null	Het
Btg2	T	A	1: 134,005,433 (GRCm39)	K51*	probably null	Het
Chrne	A	G	11: 70,509,092 (GRCm39)	V130A	probably benign	Het
Cracd	T	C	5: 77,004,485 (GRCm39)	V282A	unknown	Het
Cubn	T	A	2: 13,460,320 (GRCm39)	D714V	probably damaging	Het
Cyp4a29	A	T	4: 115,105,756 (GRCm39)	I153F	probably damaging	Het
Dph7	C	A	2: 24,852,505 (GRCm39)	H5Q	probably benign	Het
Epha6	T	C	16: 59,595,988 (GRCm39)	N901S	possibly damaging	Het
Exosc9	C	A	3: 36,607,990 (GRCm39)	P66Q	probably damaging	Het
Foxn3	T	C	12: 99,355,038 (GRCm39)	D42G	possibly damaging	Het
Gbp11	A	G	5: 105,478,816 (GRCm39)		probably null	Het
Gm3264	A	T	14: 16,058,304 (GRCm39)	Y37F	probably damaging	Het
H2-M10.2	T	A	17: 36,596,945 (GRCm39)	I44F	probably benign	Het
Hemgn	A	T	4: 46,396,145 (GRCm39)	F364I	probably damaging	Het
Hnf4a	A	G	2: 163,400,932 (GRCm39)	I184V	probably benign	Het
Ighe	G	T	12: 113,235,785 (GRCm39)	C180*	probably null	Het
Iigp1c	A	T	18: 60,379,122 (GRCm39)	N219I	probably benign	Het
Klk1b22	T	A	7: 43,765,534 (GRCm39)	I162K	probably benign	Het
Lmo3	C	T	6: 138,354,220 (GRCm39)	A104T	probably damaging	Het
Lsm14a	A	G	7: 34,053,263 (GRCm39)	V263A	probably benign	Het
Ltbp1	T	C	17: 75,671,432 (GRCm39)	Y1538H	probably damaging	Het
Ly6g6g	T	C	15: 74,647,249 (GRCm39)	E32G		Het
Map9	A	G	3: 82,278,663 (GRCm39)	E221G	possibly damaging	Het
Mccc2	G	A	13: 100,130,144 (GRCm39)	A71V	possibly damaging	Het
Mdc1	T	A	17: 36,161,712 (GRCm39)	V875E	probably damaging	Het
Mier2	A	T	10: 79,376,289 (GRCm39)	I212N	unknown	Het
Mitd1	T	C	1: 37,920,117 (GRCm39)	T164A	probably benign	Het
Myh1	T	C	11: 67,111,331 (GRCm39)	I1590T	probably benign	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,652 (GRCm39)	V118E	probably benign	Het
Nynrin	G	A	14: 56,108,873 (GRCm39)	V1327I	probably benign	Het
Oas1c	C	A	5: 120,943,484 (GRCm39)	K218N	probably damaging	Het
Or11g24	A	G	14: 50,662,507 (GRCm39)	D177G	probably damaging	Het
Or13a18	A	G	7: 140,190,961 (GRCm39)	N286S	probably damaging	Het
Or1e23	A	T	11: 73,407,674 (GRCm39)	V117D	possibly damaging	Het
Or4a80	T	A	2: 89,582,285 (GRCm39)	M296L	probably benign	Het
Or5g26	T	A	2: 85,493,912 (GRCm39)	I289F	probably damaging	Het
Otoa	A	T	7: 120,731,633 (GRCm39)	M618L	probably benign	Het
P3r3urf	G	A	4: 116,030,664 (GRCm39)	G23R	probably benign	Het
Plcg2	A	T	8: 118,231,028 (GRCm39)	T37S	probably benign	Het
Plekhg4	T	C	8: 106,107,499 (GRCm39)	L1010P	probably damaging	Het
Plxnb1	T	C	9: 108,943,675 (GRCm39)	F1921L	probably damaging	Het
Prss47	T	A	13: 65,197,303 (GRCm39)	K144N	probably damaging	Het
Rapgef2	T	C	3: 78,988,531 (GRCm39)	K953E	probably damaging	Het
Rasip1	T	A	7: 45,288,148 (GRCm39)	I909N	probably damaging	Het
Rps5	A	G	7: 12,656,922 (GRCm39)	T8A	probably benign	Het
Rsbn1l	T	C	5: 21,132,621 (GRCm39)	K213E	possibly damaging	Het
Serpinb5	T	C	1: 106,809,700 (GRCm39)	F369L	probably benign	Het
Slc4a5	T	C	6: 83,241,297 (GRCm39)	V306A	probably benign	Het
Sox13	T	C	1: 133,312,369 (GRCm39)	Y465C	probably damaging	Het
Sox13	C	A	1: 133,312,311 (GRCm39)	K484N	probably damaging	Het
Stx3	A	G	19: 11,769,208 (GRCm39)	I39T	possibly damaging	Het
Tbc1d5	T	C	17: 51,273,763 (GRCm39)	Y116C	probably damaging	Het
Tcp11l1	T	A	2: 104,514,480 (GRCm39)	Q429L	probably benign	Het
Tns3	G	A	11: 8,401,442 (GRCm39)	T952I	probably benign	Het
Trib3	T	C	2: 152,181,692 (GRCm39)	H176R	possibly damaging	Het
Trim12a	A	G	7: 103,950,049 (GRCm39)	Y297H	probably damaging	Het
Unc13a	A	G	8: 72,083,603 (GRCm39)	V1577A	probably damaging	Het
Vezf1	C	A	11: 87,965,489 (GRCm39)	P244T	probably damaging	Het
Vmn1r121	T	A	7: 20,831,945 (GRCm39)	D165V	probably damaging	Het
Vmn2r117	T	A	17: 23,679,107 (GRCm39)	I706F	probably benign	Het
Vmn2r117	C	T	17: 23,679,319 (GRCm39)	C635Y	probably damaging	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r87	A	T	10: 130,308,588 (GRCm39)	M550K	probably damaging	Het
Wdr6	A	G	9: 108,451,489 (GRCm39)	L798P	probably damaging	Het
Wtap	C	T	17: 13,199,821 (GRCm39)	G54D	probably benign	Het
Zfp827	A	G	8: 79,917,047 (GRCm39)	S541G		Het
Zkscan3	A	T	13: 21,572,608 (GRCm39)	Y341*	probably null	Het

Other mutations in Or5h17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02294:Or5h17	APN	16	58,820,428 (GRCm39)	missense	probably damaging	1.00
IGL02795:Or5h17	APN	16	58,820,640 (GRCm39)	missense	possibly damaging	0.73
IGL02803:Or5h17	APN	16	58,820,321 (GRCm39)	missense	probably benign	0.33
IGL02837:Or5h17	UTSW	16	58,820,909 (GRCm39)	missense	probably damaging	1.00
R0045:Or5h17	UTSW	16	58,820,854 (GRCm39)	missense	probably benign	0.00
R0372:Or5h17	UTSW	16	58,820,450 (GRCm39)	missense	probably benign	0.03
R0652:Or5h17	UTSW	16	58,820,063 (GRCm39)	missense	probably damaging	0.99
R0890:Or5h17	UTSW	16	58,820,150 (GRCm39)	missense	possibly damaging	0.94
R1279:Or5h17	UTSW	16	58,820,501 (GRCm39)	missense	possibly damaging	0.94
R1429:Or5h17	UTSW	16	58,820,501 (GRCm39)	missense	possibly damaging	0.94
R1473:Or5h17	UTSW	16	58,820,275 (GRCm39)	missense	probably benign	0.32
R2115:Or5h17	UTSW	16	58,820,783 (GRCm39)	missense	possibly damaging	0.50
R2117:Or5h17	UTSW	16	58,820,783 (GRCm39)	missense	possibly damaging	0.50
R4508:Or5h17	UTSW	16	58,820,138 (GRCm39)	missense	probably benign	0.26
R4709:Or5h17	UTSW	16	58,820,458 (GRCm39)	missense	probably benign	0.01
R4929:Or5h17	UTSW	16	58,820,582 (GRCm39)	missense	probably damaging	1.00
R5478:Or5h17	UTSW	16	58,820,425 (GRCm39)	missense	possibly damaging	0.88
R5522:Or5h17	UTSW	16	58,820,268 (GRCm39)	missense	probably benign	0.22
R5571:Or5h17	UTSW	16	58,820,569 (GRCm39)	missense	probably benign	0.02
R5685:Or5h17	UTSW	16	58,820,709 (GRCm39)	missense	probably benign
R6064:Or5h17	UTSW	16	58,820,186 (GRCm39)	missense	probably damaging	0.99
R7870:Or5h17	UTSW	16	58,820,086 (GRCm39)	missense	probably benign	0.00
R8085:Or5h17	UTSW	16	58,820,432 (GRCm39)	missense	probably benign	0.02
R8459:Or5h17	UTSW	16	58,820,348 (GRCm39)	missense	probably damaging	1.00
R9177:Or5h17	UTSW	16	58,820,083 (GRCm39)	missense	probably damaging	0.99
R9268:Or5h17	UTSW	16	58,820,083 (GRCm39)	missense	probably damaging	0.99
R9569:Or5h17	UTSW	16	58,820,228 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTACCACAGTGGAAACC -3'
(R):5'- TCATGAATCACAGCATGAAGAAAGC -3'

Sequencing Primer
(F):5'- TCATGACCATTGTCGGGAAC -3'
(R):5'- GCATGAAGAAAGCCACCTATAAATG -3'

Posted On

2019-10-07