Mutagenetix > Incidental Mutation

Incidental Mutation 'R9775:Or5ac17'

733660

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

Accession Numbers

Essential gene?

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

Stock #

R9775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59036048-59036974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59036069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 302 (R302S)

Ref Sequence

ENSEMBL: ENSMUSP00000150643 (fasta)

Gene Model

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

AlphaFold

F6ZUS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099657
AA Change: R302S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: R302S

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

possibly damaging
Transcript: ENSMUST00000214186
AA Change: R302S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	G	5: 113,861,765 (GRCm39)	Q35P	unknown	Het
Angptl2	G	A	2: 33,118,230 (GRCm39)	M1I	probably null	Het
Bptf	T	C	11: 106,934,502 (GRCm39)	E223G	probably benign	Het
C2cd3	T	A	7: 100,076,458 (GRCm39)	I805N		Het
Cep152	G	A	2: 125,423,660 (GRCm39)	Q914*	probably null	Het
Clasp2	A	G	9: 113,725,740 (GRCm39)	T794A	probably benign	Het
Cntnap2	A	G	6: 47,026,261 (GRCm39)	Y970C	probably damaging	Het
Ddx11	G	T	17: 66,445,157 (GRCm39)	V360L	probably damaging	Het
Fer1l6	G	A	15: 58,497,098 (GRCm39)	V1223I	probably benign	Het
Fez2	A	T	17: 78,708,183 (GRCm39)	I255N	probably damaging	Het
Gata3	A	G	2: 9,863,197 (GRCm39)	V439A	possibly damaging	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnj9	T	A	1: 172,153,741 (GRCm39)	I128F	probably damaging	Het
Klhdc2	A	G	12: 69,350,393 (GRCm39)	D146G	probably damaging	Het
Klra6	T	A	6: 129,999,639 (GRCm39)	R110W	probably damaging	Het
Ldha	A	T	7: 46,491,047 (GRCm39)		probably benign	Het
Lingo2	C	A	4: 35,708,781 (GRCm39)	A400S	probably benign	Het
Lrrd1	A	T	5: 3,899,897 (GRCm39)	R67S	probably benign	Het
Mapk6	C	T	9: 75,295,668 (GRCm39)	C610Y	possibly damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Myoz2	T	C	3: 122,807,399 (GRCm39)	E137G	probably damaging	Het
Nemp2	T	A	1: 52,680,064 (GRCm39)	I96N	probably damaging	Het
Npy1r	A	G	8: 67,157,742 (GRCm39)	M351V	possibly damaging	Het
Nsg2	G	A	11: 32,005,029 (GRCm39)	S77N	possibly damaging	Het
Or10ag53	A	G	2: 87,082,568 (GRCm39)	M96V	probably damaging	Het
Or6c5c	T	C	10: 129,298,677 (GRCm39)	I44T	probably benign	Het
Osbpl9	G	A	4: 109,013,747 (GRCm39)		probably benign	Het
Pcolce2	G	A	9: 95,520,797 (GRCm39)	C58Y	probably damaging	Het
Piezo1	A	G	8: 123,208,927 (GRCm39)	F2480L	probably damaging	Het
Pip5k1c	T	A	10: 81,147,853 (GRCm39)	D419E	probably damaging	Het
Plppr1	A	T	4: 49,323,435 (GRCm39)	T242S	probably benign	Het
Ppp1r13b	A	C	12: 111,803,457 (GRCm39)	S254A	possibly damaging	Het
Pramel17	A	G	4: 101,694,244 (GRCm39)	M213T	probably benign	Het
Ripk3	A	G	14: 56,023,252 (GRCm39)	L151S	unknown	Het
Scmh1	A	T	4: 120,340,820 (GRCm39)	M169L	probably benign	Het
Serpinb9d	A	T	13: 33,382,007 (GRCm39)	R159W	probably damaging	Het
Slc26a9	A	G	1: 131,690,970 (GRCm39)	R583G	possibly damaging	Het
Smim8	T	C	4: 34,769,068 (GRCm39)	E72G	probably damaging	Het
Sned1	A	G	1: 93,199,604 (GRCm39)	N511S	probably damaging	Het
Srprb	A	C	9: 103,078,490 (GRCm39)	V80G	probably benign	Het
Ssx2ip	G	A	3: 146,136,808 (GRCm39)	S352N	probably benign	Het
Tbccd1	A	G	16: 22,652,666 (GRCm39)	S152P	probably damaging	Het
Tenm4	T	C	7: 96,555,761 (GRCm39)	I2822T	possibly damaging	Het
Tff1	A	G	17: 31,383,972 (GRCm39)	V8A	probably benign	Het
Tmem132b	T	A	5: 125,864,566 (GRCm39)	S891T	probably benign	Het
Tmem200c	T	A	17: 69,149,118 (GRCm39)	V567D	probably damaging	Het
Trim3	G	A	7: 105,260,377 (GRCm39)	T708M	probably damaging	Het
Ttn	T	C	2: 76,544,927 (GRCm39)	N32725S	possibly damaging	Het
Ubash3b	T	G	9: 40,926,214 (GRCm39)	E633A	possibly damaging	Het
Usp4	A	G	9: 108,239,780 (GRCm39)	R170G	probably damaging	Het
Wdr33	T	A	18: 32,037,406 (GRCm39)	L1222Q	unknown	Het
Zfhx2	A	G	14: 55,304,562 (GRCm39)	S1141P	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
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
R9795:Or5ac17	UTSW	16	59,036,938 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GTGCTACCAGAACGTCACTG -3'
(R):5'- ACATGCAGTGCCCATCTACTC -3'

Sequencing Primer
(F):5'- CGTCACTGAACCTACATGATTGG -3'
(R):5'- GCAGTGCCCATCTACTCTCTGTC -3'

Posted On

2022-11-14