Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Or5ac17'

434747

Institutional Source

Beutler Lab

Gene Symbol

Or5ac17

Ensembl Gene

ENSMUSG00000074996

Gene Name

olfactory receptor family 5 subfamily AC member 17

Synonyms

MOR182-14, GA_x54KRFPKG5P-55430495-55429569, Olfr199

MMRRC Submission

043092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59036048-59036974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59036403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 191 (D191G)

Ref Sequence

ENSEMBL: ENSMUSP00000150643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099657] [ENSMUST00000214186]

AlphaFold

F6ZUS0

Predicted Effect

probably benign
Transcript: ENSMUST00000099657
AA Change: D191G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: D191G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.7e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.6e-6	PFAM
Pfam:7tm_1	41	290	4.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214186
AA Change: D191G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,155,530 (GRCm39)	D163V	probably benign	Het
Ank2	A	T	3: 126,740,947 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,814,442 (GRCm39)	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,232,491 (GRCm39)	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,510,231 (GRCm39)	M712T	probably damaging	Het
Apcdd1	T	C	18: 63,070,105 (GRCm39)	I124T	probably benign	Het
Carmil3	A	G	14: 55,732,347 (GRCm39)	K256R	probably damaging	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Ccdc141	A	G	2: 76,888,241 (GRCm39)	V508A	probably benign	Het
Ccdc33	A	G	9: 58,024,450 (GRCm39)	S226P	possibly damaging	Het
Cep72	T	C	13: 74,210,335 (GRCm39)	E9G	probably benign	Het
Clca4b	A	T	3: 144,621,227 (GRCm39)	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,054,939 (GRCm39)	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,269,998 (GRCm39)	A429V	probably damaging	Het
Col4a4	T	C	1: 82,465,238 (GRCm39)	E979G	unknown	Het
Coq10b	T	C	1: 55,103,359 (GRCm39)	Y46H	possibly damaging	Het
Cplane1	C	A	15: 8,258,319 (GRCm39)	F2188L	probably benign	Het
Dnah17	T	C	11: 117,943,596 (GRCm39)	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,714,372 (GRCm39)	R1824*	probably null	Het
Dsp	A	C	13: 38,379,818 (GRCm39)	I1589L	probably benign	Het
Edil3	A	G	13: 89,347,593 (GRCm39)	T383A	probably benign	Het
Efemp1	T	C	11: 28,817,758 (GRCm39)	V79A	probably damaging	Het
Esyt1	C	T	10: 128,355,329 (GRCm39)	V471I	probably benign	Het
Fbxo30	T	C	10: 11,165,409 (GRCm39)	S44P	possibly damaging	Het
Fdx2	G	T	9: 20,984,562 (GRCm39)	D57E	probably benign	Het
Gbp11	A	T	5: 105,478,904 (GRCm39)	V178D	probably damaging	Het
Gna11	A	T	10: 81,366,967 (GRCm39)	I283N	probably damaging	Het
Grid2	A	T	6: 63,480,345 (GRCm39)	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,731,252 (GRCm39)	S266P	probably damaging	Het
Kirrel1	G	A	3: 86,997,825 (GRCm39)	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,735,238 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,686,267 (GRCm39)	T1171S	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med13	A	T	11: 86,210,191 (GRCm39)	S650R	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,151,976 (GRCm39)	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452 (GRCm39)	D416V	probably damaging	Het
Myh3	A	T	11: 66,987,870 (GRCm39)	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,530,894 (GRCm39)	F398L	probably benign	Het
Or2a14	A	G	6: 43,130,567 (GRCm39)	I109M	probably benign	Het
Or4k45	T	C	2: 111,395,349 (GRCm39)	T147A	probably benign	Het
Or5g9	T	C	2: 85,552,331 (GRCm39)	I194T	probably benign	Het
Otud3	A	G	4: 138,624,894 (GRCm39)	L269P	probably damaging	Het
Otx1	A	G	11: 21,946,296 (GRCm39)		probably benign	Het
Pcdhga7	A	C	18: 37,849,331 (GRCm39)	D446A	probably damaging	Het
Pcnx2	T	G	8: 126,564,754 (GRCm39)	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,698,619 (GRCm39)	G33W	probably damaging	Het
Poglut2	C	T	1: 44,151,837 (GRCm39)	V351M	probably damaging	Het
Pold1	A	G	7: 44,188,043 (GRCm39)	I585T	probably damaging	Het
Pole4	A	G	6: 82,629,115 (GRCm39)	Y84H	possibly damaging	Het
Pramel26	G	T	4: 143,539,169 (GRCm39)	S108*	probably null	Het
Ptpn23	A	G	9: 110,221,809 (GRCm39)	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rin3	T	C	12: 102,353,891 (GRCm39)	L766P	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rras2	G	A	7: 113,649,650 (GRCm39)	T138I	possibly damaging	Het
Scrn2	A	G	11: 96,921,751 (GRCm39)	I74V	probably benign	Het
Sema6d	T	C	2: 124,501,735 (GRCm39)	I526T	possibly damaging	Het
Shd	G	T	17: 56,278,577 (GRCm39)	E47*	probably null	Het
Slc22a27	T	C	19: 7,903,996 (GRCm39)	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,033,595 (GRCm39)	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,376,977 (GRCm39)	V429E	probably benign	Het
Smg8	A	T	11: 86,976,296 (GRCm39)	D428E	probably benign	Het
Snrpe	A	T	1: 133,534,211 (GRCm39)	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,109,559 (GRCm39)	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,532,356 (GRCm39)	Y70C	probably damaging	Het
Tut7	A	G	13: 59,936,367 (GRCm39)	F843L	probably damaging	Het
Ush1c	A	G	7: 45,870,847 (GRCm39)	I330T	probably damaging	Het
Wnt11	T	C	7: 98,488,349 (GRCm39)	L12P	probably damaging	Het
Zan	A	G	5: 137,436,713 (GRCm39)	S2047P	unknown	Het
Zfp763	A	C	17: 33,240,768 (GRCm39)	S20R	probably damaging	Het

Other mutations in Or5ac17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Or5ac17	APN	16	59,036,859 (GRCm39)	missense	probably damaging	0.97
IGL00972:Or5ac17	APN	16	59,036,829 (GRCm39)	missense	probably damaging	1.00
IGL01734:Or5ac17	APN	16	59,036,792 (GRCm39)	missense	probably benign	0.12
IGL01876:Or5ac17	APN	16	59,036,382 (GRCm39)	missense	possibly damaging	0.89
IGL02017:Or5ac17	APN	16	59,036,310 (GRCm39)	missense	probably damaging	1.00
IGL02871:Or5ac17	APN	16	59,036,737 (GRCm39)	nonsense	probably null
IGL03153:Or5ac17	APN	16	59,036,566 (GRCm39)	missense	probably benign	0.35
R0702:Or5ac17	UTSW	16	59,036,062 (GRCm39)	missense	probably benign
R0825:Or5ac17	UTSW	16	59,036,813 (GRCm39)	missense	possibly damaging	0.70
R1522:Or5ac17	UTSW	16	59,036,347 (GRCm39)	missense	probably damaging	1.00
R1769:Or5ac17	UTSW	16	59,036,344 (GRCm39)	missense	probably benign	0.01
R2144:Or5ac17	UTSW	16	59,036,389 (GRCm39)	missense	probably benign	0.00
R3956:Or5ac17	UTSW	16	59,036,428 (GRCm39)	nonsense	probably null
R4783:Or5ac17	UTSW	16	59,036,222 (GRCm39)	missense	probably damaging	0.98
R6031:Or5ac17	UTSW	16	59,036,296 (GRCm39)	missense	probably benign	0.00
R6031:Or5ac17	UTSW	16	59,036,296 (GRCm39)	missense	probably benign	0.00
R6141:Or5ac17	UTSW	16	59,036,916 (GRCm39)	missense	probably benign
R6445:Or5ac17	UTSW	16	59,036,472 (GRCm39)	missense	probably damaging	1.00
R6459:Or5ac17	UTSW	16	59,036,383 (GRCm39)	missense	probably benign	0.44
R6568:Or5ac17	UTSW	16	59,036,641 (GRCm39)	missense	probably benign	0.36
R7378:Or5ac17	UTSW	16	59,036,283 (GRCm39)	missense	probably benign	0.00
R7438:Or5ac17	UTSW	16	59,036,761 (GRCm39)	missense	probably benign	0.10
R8157:Or5ac17	UTSW	16	59,036,352 (GRCm39)	missense	probably benign
R8258:Or5ac17	UTSW	16	59,036,458 (GRCm39)	missense	probably benign	0.00
R8259:Or5ac17	UTSW	16	59,036,458 (GRCm39)	missense	probably benign	0.00
R9775:Or5ac17	UTSW	16	59,036,069 (GRCm39)	missense	possibly damaging	0.90
R9795:Or5ac17	UTSW	16	59,036,938 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GAGTAGATGGGCACTGCATG -3'
(R):5'- AACCACGGAATGCTTTCTCC -3'

Sequencing Primer
(F):5'- CACTGCATGTGGAGAAGGCTTTG -3'
(R):5'- GATGGCCTATGACCGCTATCTG -3'

Posted On

2016-10-24