Mutagenetix > Incidental Mutation

Incidental Mutation 'R8258:Or5ac17'

640096

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

067684-MU

Accession Numbers

Essential gene?

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

Stock #

R8258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59036048-59036974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59036458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 173 (I173V)

Ref Sequence

ENSEMBL: ENSMUSP00000097249 (fasta)

Gene Model

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

AlphaFold

F6ZUS0

Predicted Effect

probably benign
Transcript: ENSMUST00000099657
AA Change: I173V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: I173V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Cimap2	C	T	4: 106,448,859 (GRCm39)	G400S	probably damaging	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	probably benign	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
R5534:Or5ac17	UTSW	16	59,036,403 (GRCm39)	missense	probably benign	0.39
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
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'- CATGTGGAGAAGGCTTTGCTTC -3'
(R):5'- CAACCACGGAATGCTTTCTC -3'

Sequencing Primer
(F):5'- GAGAAGGCTTTGCTTCTGCCC -3'
(R):5'- CCTTTCTGTGATGGCCTATGAC -3'

Posted On

2020-07-28