Mutagenetix > Incidental Mutation

Incidental Mutation 'R5419:Or5ac20'

427954

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

042987-MU

Accession Numbers

Essential gene?

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

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59103935-59104858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59104704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 52 (D52V)

Ref Sequence

ENSEMBL: ENSMUSP00000151058 (fasta)

Gene Model

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

AlphaFold

Q8VGQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000049859
AA Change: D52V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059496
Gene: ENSMUSG00000048810
AA Change: D52V

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: D52V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: D52V

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: D52V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,220,624 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,143,533 (GRCm39)		probably null	Het
Akap13	A	T	7: 75,259,991 (GRCm39)	T69S	probably benign	Het
Arl1	T	A	10: 88,572,966 (GRCm39)	C80S	probably damaging	Het
Bltp2	T	A	11: 78,162,916 (GRCm39)	L926*	probably null	Het
Brsk1	A	G	7: 4,712,003 (GRCm39)	T618A	possibly damaging	Het
Cep295	T	C	9: 15,235,533 (GRCm39)	H1982R	probably damaging	Het
Ces5a	A	T	8: 94,226,059 (GRCm39)	S559T	unknown	Het
Clcf1	A	G	19: 4,272,213 (GRCm39)	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Cobll1	A	T	2: 64,933,701 (GRCm39)	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,589,794 (GRCm39)	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,380,848 (GRCm39)	R126*	probably null	Het
Daam2	A	G	17: 49,787,782 (GRCm39)	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,275,621 (GRCm39)	C446S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eif2d	T	C	1: 131,086,035 (GRCm39)	*177R	probably null	Het
Fkbp15	G	A	4: 62,246,114 (GRCm39)	A438V	probably damaging	Het
Gjb5	G	A	4: 127,249,652 (GRCm39)	A164V	probably benign	Het
Grin1	A	T	2: 25,188,285 (GRCm39)		probably null	Het
Grm3	A	G	5: 9,620,233 (GRCm39)	F337S	probably damaging	Het
Hey2	T	A	10: 30,710,019 (GRCm39)	T245S	probably benign	Het
Ifi206	T	C	1: 173,308,797 (GRCm39)	T400A	probably benign	Het
Itga7	G	A	10: 128,779,902 (GRCm39)	E480K	probably null	Het
Itpr1	T	C	6: 108,470,755 (GRCm39)	Y2227H	possibly damaging	Het
Krt8	T	C	15: 101,912,337 (GRCm39)	D113G	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	A	G	7: 66,357,843 (GRCm39)		probably benign	Het
Lmf1	A	T	17: 25,881,610 (GRCm39)	D553V	possibly damaging	Het
Lnpep	A	G	17: 17,786,992 (GRCm39)	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,620,716 (GRCm39)	C3587*	probably null	Het
Macf1	A	T	4: 123,290,917 (GRCm39)	D3435E	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Myg1	A	T	15: 102,245,397 (GRCm39)	N206I	probably damaging	Het
Myl12a	T	G	17: 71,301,694 (GRCm39)	R144S	probably benign	Het
Myo5a	T	A	9: 75,055,179 (GRCm39)	I454K	probably damaging	Het
Nwd2	A	G	5: 63,965,051 (GRCm39)	D1545G	probably benign	Het
Ogdhl	T	G	14: 32,061,181 (GRCm39)	D457E	probably damaging	Het
Or9s18	A	C	13: 65,300,588 (GRCm39)	L183F	probably damaging	Het
Paf1	A	G	7: 28,095,095 (GRCm39)	I112V	possibly damaging	Het
Pate7	T	A	9: 35,689,407 (GRCm39)		probably null	Het
Pcdhga4	C	T	18: 37,819,798 (GRCm39)	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,127,234 (GRCm39)	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,148,267 (GRCm39)	I676F	probably damaging	Het
Rev3l	T	C	10: 39,700,927 (GRCm39)	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,550,586 (GRCm39)	S868P	probably damaging	Het
Shoc1	A	T	4: 59,049,017 (GRCm39)	M1116K	probably benign	Het
Slc47a2	A	G	11: 61,198,412 (GRCm39)	F428L	probably benign	Het
Slco1a7	C	T	6: 141,681,826 (GRCm39)		probably null	Het
Slco3a1	A	T	7: 73,934,363 (GRCm39)	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,642,090 (GRCm39)	C65*	probably null	Het
Ssu72	T	C	4: 155,800,007 (GRCm39)	F57L	probably damaging	Het
Tanc2	A	G	11: 105,813,709 (GRCm39)	T1718A	probably benign	Het
Tnks	G	C	8: 35,432,720 (GRCm39)	P34A	unknown	Het
Top3a	G	A	11: 60,653,348 (GRCm39)	T42I	probably damaging	Het
Trank1	T	C	9: 111,220,369 (GRCm39)	S2369P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqln1	T	C	13: 58,330,997 (GRCm39)	Q410R	probably damaging	Het
Vmn2r11	A	G	5: 109,207,224 (GRCm39)	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,685,375 (GRCm39)	F129S	probably benign	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
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
R8896:Or5ac20	UTSW	16	59,104,452 (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'- ACATATGGCCACATAGCGGTC -3'
(R):5'- ATGATTGTCCAAGTCAGATATGGCG -3'

Sequencing Primer
(F):5'- TAGCGGTCATAGGCCATCACTAG -3'
(R):5'- TGTCCAAGTCAGATATGGCGGAAAG -3'

Posted On

2016-09-01