Mutagenetix > Incidental Mutation

Incidental Mutation 'R8896:Or5ac20'

678062

Institutional Source

Beutler Lab

Gene Symbol

Or5ac20

Ensembl Gene

ENSMUSG00000048810

Gene Name

olfactory receptor family 5 subfamily AC member 20

Synonyms

GA_x54KRFPKG5P-55498766-55497843, Olfr202, MOR182-1

MMRRC Submission

068698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59103935-59104858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59104452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 136 (M136K)

Ref Sequence

ENSEMBL: ENSMUSP00000144622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049859] [ENSMUST00000201687] [ENSMUST00000217485]

AlphaFold

Q8VGQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000049859
AA Change: M136K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059496
Gene: ENSMUSG00000048810
AA Change: M136K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.9e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	296	1.9e-6	PFAM
Pfam:7tm_1	41	290	1.2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201687
AA Change: M136K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: M136K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	3.4e-46	PFAM
Pfam:7tm_1	40	289	1.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217485
AA Change: M136K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,291,233 (GRCm39)	S784A	probably benign	Het
Ap3d1	T	A	10: 80,552,425 (GRCm39)	H581L	probably benign	Het
Atp11a	T	C	8: 12,899,781 (GRCm39)	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,437,514 (GRCm39)	D213G	probably benign	Het
Bcl11a	A	G	11: 24,113,640 (GRCm39)	S328G	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cadps2	T	A	6: 23,410,876 (GRCm39)	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 179,958,373 (GRCm39)		probably benign	Het
Cep152	A	T	2: 125,408,155 (GRCm39)	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,833,254 (GRCm39)	I404V	probably benign	Het
Cr2	A	T	1: 194,851,581 (GRCm39)	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,644,454 (GRCm39)	Y257C	unknown	Het
Dennd1c	T	A	17: 57,381,512 (GRCm39)	D116V	probably damaging	Het
Dph2	G	A	4: 117,747,575 (GRCm39)	R270*	probably null	Het
Dpp8	A	C	9: 64,985,318 (GRCm39)	H792P	possibly damaging	Het
Dusp29	T	C	14: 21,736,763 (GRCm39)	D113G	probably benign	Het
Efs	T	C	14: 55,157,756 (GRCm39)	E185G	possibly damaging	Het
Eml3	A	G	19: 8,914,056 (GRCm39)	E480G	probably damaging	Het
Fam193a	A	G	5: 34,583,828 (GRCm39)	T336A	probably benign	Het
Fermt1	C	T	2: 132,783,852 (GRCm39)		probably benign	Het
Galnt4	T	A	10: 98,945,955 (GRCm39)	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,309,327 (GRCm39)	T146K	probably damaging	Het
Gbp5	C	T	3: 142,211,308 (GRCm39)	T346I	probably damaging	Het
Glrx	G	T	13: 75,995,317 (GRCm39)	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,490,616 (GRCm39)	T225S	probably damaging	Het
Grm3	A	G	5: 9,562,483 (GRCm39)	F456L	possibly damaging	Het
Gse1	T	G	8: 121,303,185 (GRCm39)	S1109A	unknown	Het
Gstp3	A	T	19: 4,108,573 (GRCm39)	L63Q	probably damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Herc4	T	A	10: 63,147,286 (GRCm39)	I801N	possibly damaging	Het
Ido1	G	T	8: 25,077,880 (GRCm39)	D153E	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnj9	T	A	1: 172,153,360 (GRCm39)	S255C	probably damaging	Het
Kpna3	T	C	14: 61,629,294 (GRCm39)	N39D	probably benign	Het
Krt39	A	T	11: 99,409,095 (GRCm39)	S269T	probably damaging	Het
Lfng	G	A	5: 140,598,978 (GRCm39)	V296I	probably benign	Het
Lrit3	T	A	3: 129,585,132 (GRCm39)	I209F	probably damaging	Het
Map4k5	T	A	12: 69,870,275 (GRCm39)	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328 (GRCm39)	P652L	probably benign	Het
Med30	G	A	15: 52,584,516 (GRCm39)	V145I	possibly damaging	Het
Megf6	T	A	4: 154,326,860 (GRCm39)	D163E	probably damaging	Het
Meltf	T	A	16: 31,709,522 (GRCm39)		probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mppe1	T	C	18: 67,370,472 (GRCm39)	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673 (GRCm38)	P1516S	probably benign	Het
Myo3b	C	A	2: 70,069,160 (GRCm39)	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,298,688 (GRCm39)	T226A	probably benign	Het
Nod1	A	G	6: 54,921,277 (GRCm39)	V347A	probably benign	Het
Nup210	A	T	6: 91,019,235 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,025,932 (GRCm39)	R185G	probably damaging	Het
Oma1	T	C	4: 103,210,829 (GRCm39)	L445S	probably damaging	Het
Or13p10	A	T	4: 118,523,502 (GRCm39)	M263L	probably benign	Het
Or8g36	A	G	9: 39,422,770 (GRCm39)	L82P	probably damaging	Het
Oxsm	A	T	14: 16,242,677 (GRCm38)	F31I	probably benign	Het
Pdcd5	A	T	7: 35,346,795 (GRCm39)	M1K	probably null	Het
Pkd1l2	T	C	8: 117,740,615 (GRCm39)	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,442,151 (GRCm39)	S404C	probably null	Het
Plec	A	G	15: 76,078,560 (GRCm39)	V60A	unknown	Het
Prpsap2	A	G	11: 61,643,736 (GRCm39)	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804 (GRCm38)	L239P	probably damaging	Het
Ryr3	A	T	2: 112,583,395 (GRCm39)	Y2845*	probably null	Het
Spta1	T	C	1: 174,045,548 (GRCm39)	C1569R	probably damaging	Het
Stard13	G	A	5: 150,986,115 (GRCm39)	S465L	probably damaging	Het
Tmub1	A	T	5: 24,651,680 (GRCm39)	S80T	probably benign	Het
Trpv5	A	G	6: 41,647,847 (GRCm39)	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,411,203 (GRCm39)	A455V	probably benign	Het
Washc4	T	A	10: 83,405,882 (GRCm39)	N459K	probably damaging	Het
Wdr11	C	T	7: 129,207,437 (GRCm39)	R300*	probably null	Het
Zer1	A	G	2: 29,993,430 (GRCm39)	F559L	probably damaging	Het
Zfat	A	T	15: 68,052,519 (GRCm39)	V425D	probably damaging	Het
Zfp738	G	A	13: 67,817,910 (GRCm39)	L694F		Het
Zfp839	C	T	12: 110,835,277 (GRCm39)	A844V	probably damaging	Het

Other mutations in Or5ac20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Or5ac20	APN	16	59,104,584 (GRCm39)	missense	probably damaging	0.99
IGL02439:Or5ac20	APN	16	59,104,818 (GRCm39)	missense	probably damaging	1.00
IGL02798:Or5ac20	APN	16	59,104,478 (GRCm39)	nonsense	probably null
IGL03075:Or5ac20	APN	16	59,104,291 (GRCm39)	missense	possibly damaging	0.87
IGL03186:Or5ac20	APN	16	59,104,266 (GRCm39)	missense	probably damaging	0.98
R0270:Or5ac20	UTSW	16	59,104,116 (GRCm39)	missense	probably damaging	1.00
R0631:Or5ac20	UTSW	16	59,104,570 (GRCm39)	missense	possibly damaging	0.60
R1441:Or5ac20	UTSW	16	59,104,228 (GRCm39)	missense	probably benign	0.00
R1546:Or5ac20	UTSW	16	59,104,366 (GRCm39)	missense	probably damaging	1.00
R3403:Or5ac20	UTSW	16	59,104,475 (GRCm39)	missense	probably benign	0.09
R4790:Or5ac20	UTSW	16	59,104,821 (GRCm39)	missense	probably damaging	0.99
R4960:Or5ac20	UTSW	16	59,104,348 (GRCm39)	missense	probably benign	0.23
R5369:Or5ac20	UTSW	16	59,104,743 (GRCm39)	missense	probably damaging	0.97
R5419:Or5ac20	UTSW	16	59,104,704 (GRCm39)	missense	probably damaging	0.99
R5646:Or5ac20	UTSW	16	59,104,342 (GRCm39)	missense	probably benign	0.00
R6048:Or5ac20	UTSW	16	59,104,342 (GRCm39)	missense	probably benign	0.00
R6732:Or5ac20	UTSW	16	59,104,314 (GRCm39)	missense	probably benign	0.16
R6994:Or5ac20	UTSW	16	59,104,453 (GRCm39)	missense	possibly damaging	0.87
R7265:Or5ac20	UTSW	16	59,104,287 (GRCm39)	missense	probably damaging	1.00
R7956:Or5ac20	UTSW	16	59,104,856 (GRCm39)	start codon destroyed	probably null	0.20
R8074:Or5ac20	UTSW	16	59,104,549 (GRCm39)	missense	probably benign	0.22
R8082:Or5ac20	UTSW	16	59,104,750 (GRCm39)	missense	possibly damaging	0.64
R8769:Or5ac20	UTSW	16	59,104,194 (GRCm39)	missense	probably damaging	1.00
R8923:Or5ac20	UTSW	16	59,104,399 (GRCm39)	missense	probably benign	0.19
Z1177:Or5ac20	UTSW	16	59,104,293 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5ac20	UTSW	16	59,104,071 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- AGCATGTTAATTGAAGGATCAGTGC -3'
(R):5'- ATGTACGTCTTCCTCAGCAGC -3'

Sequencing Primer
(F):5'- TCAGTGCAAGAAATTGTGAGTAG -3'
(R):5'- AGCAGCTTGGCCTTTGC -3'

Posted On

2021-08-02