Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Or5ac17'

633097

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

067583-MU

Accession Numbers

Essential gene?

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

Stock #

R8157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59036048-59036974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59036352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 208 (V208A)

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: V208A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: V208A

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: V208A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,155,361 (GRCm39)	R51W	probably damaging	Het
Adam3	A	G	8: 25,197,453 (GRCm39)	I326T	probably benign	Het
Alpk3	A	G	7: 80,743,470 (GRCm39)	K1096E	probably benign	Het
Aph1a	T	C	3: 95,802,150 (GRCm39)	V44A	possibly damaging	Het
Ash1l	T	A	3: 88,971,014 (GRCm39)		probably null	Het
Atg2b	A	G	12: 105,629,199 (GRCm39)	M410T	probably damaging	Het
Castor2	T	C	5: 134,165,936 (GRCm39)	F228S	possibly damaging	Het
Ccdc15	C	T	9: 37,226,753 (GRCm39)	G407D	probably benign	Het
Cd200r4	T	A	16: 44,653,504 (GRCm39)	N137K	probably damaging	Het
Clec18a	A	G	8: 111,798,683 (GRCm39)	L438P	probably damaging	Het
Clip1	A	G	5: 123,768,782 (GRCm39)	S606P	probably benign	Het
Col11a2	G	A	17: 34,280,230 (GRCm39)	G1193E	unknown	Het
Col6a4	A	G	9: 105,945,097 (GRCm39)	S1006P	possibly damaging	Het
Ctsc	A	T	7: 87,951,416 (GRCm39)	D221V	probably benign	Het
Ctse	T	C	1: 131,600,249 (GRCm39)	Y333H	probably damaging	Het
Cyp2c23	T	C	19: 44,010,066 (GRCm39)	N93S	probably benign	Het
Daam1	A	T	12: 71,999,263 (GRCm39)	D633V	probably damaging	Het
Dlg2	G	A	7: 92,036,140 (GRCm39)	R607H	probably damaging	Het
Dsg2	T	A	18: 20,713,606 (GRCm39)	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473 (GRCm39)	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,345,506 (GRCm39)	S153A	probably damaging	Het
Eprs1	C	A	1: 185,130,591 (GRCm39)	H651N	probably benign	Het
Fat2	T	C	11: 55,142,910 (GRCm39)	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,702,714 (GRCm39)	K252R	probably benign	Het
Galt	A	T	4: 41,757,226 (GRCm39)	Q193L	probably benign	Het
Gm7356	T	C	17: 14,221,583 (GRCm39)	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd1	T	A	12: 51,838,073 (GRCm39)	R696S	possibly damaging	Het
Hydin	A	G	8: 111,178,668 (GRCm39)	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,282,306 (GRCm39)	S14R	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lrit3	T	C	3: 129,594,284 (GRCm39)	T98A	probably benign	Het
Macc1	A	G	12: 119,409,728 (GRCm39)	I165M	probably benign	Het
Mapre2	T	A	18: 23,991,218 (GRCm39)	M162K	probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Naa30	T	A	14: 49,410,865 (GRCm39)	N264K	probably benign	Het
Or8d2	T	A	9: 38,759,762 (GRCm39)	Y117*	probably null	Het
Osr2	T	C	15: 35,302,063 (GRCm39)	I221T	probably benign	Het
Pcdh12	A	T	18: 38,415,850 (GRCm39)	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,436,292 (GRCm39)	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,536,208 (GRCm39)	V734E	probably damaging	Het
Pibf1	T	A	14: 99,433,831 (GRCm39)	L593I	probably benign	Het
Prag1	G	A	8: 36,614,393 (GRCm39)	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,383,330 (GRCm39)	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,539 (GRCm39)	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,879,600 (GRCm39)	N356S	probably benign	Het
Rmc1	T	C	18: 12,321,690 (GRCm39)	V497A	possibly damaging	Het
Saxo4	A	T	19: 10,455,629 (GRCm39)	F207I	probably damaging	Het
Scrib	T	C	15: 75,931,037 (GRCm39)	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,435,448 (GRCm39)	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,951,500 (GRCm39)	L97V	probably benign	Het
Tle7	A	G	8: 110,835,493 (GRCm39)	M24V	probably benign	Het
Trabd	T	A	15: 88,970,024 (GRCm39)	L340H	probably damaging	Het
Trpm1	T	C	7: 63,849,017 (GRCm39)	W88R	probably damaging	Het
Txndc12	G	T	4: 108,710,419 (GRCm39)		probably null	Het
Vmn1r175	T	C	7: 23,508,523 (GRCm39)	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,012,994 (GRCm39)	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,400,441 (GRCm39)	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,270,398 (GRCm39)	E162G	probably benign	Het
Zfp93	T	A	7: 23,975,885 (GRCm39)	C623*	probably null	Het
Zzz3	A	G	3: 152,155,285 (GRCm39)	I645V	probably null	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
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'- ACTGTAAACAAATGGGTTGAGC -3'
(R):5'- GCCGTGGCATACTTACTTGG -3'

Sequencing Primer
(F):5'- TTGTCTCCCACAGGCCCAG -3'
(R):5'- CGTGGCATACTTACTTGGTGCTC -3'

Posted On

2020-06-30