Mutagenetix > Incidental Mutation

Incidental Mutation 'R4231:Or13a20'

320846

Institutional Source

Beutler Lab

Gene Symbol

Or13a20

Ensembl Gene

ENSMUSG00000094819

Gene Name

olfactory receptor family 13 subfamily A member 20

Synonyms

MOR253-5, GA_x6K02T2PBJ9-42798103-42799038, Olfr53, IE12

MMRRC Submission

041050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140226365-140232832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140232653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 254 (Y254H)

Ref Sequence

ENSEMBL: ENSMUSP00000081494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084456] [ENSMUST00000211057] [ENSMUST00000211399]

AlphaFold

Q8VGL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084456
AA Change: Y254H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081494
Gene: ENSMUSG00000094819
AA Change: Y254H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	6.5e-51	PFAM
Pfam:7TM_GPCR_Srsx	37	208	9.7e-7	PFAM
Pfam:7tm_1	43	292	1.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211057

Predicted Effect

probably benign
Transcript: ENSMUST00000211399

Meta Mutation Damage Score

0.3746

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	A	T	12: 53,187,821 (GRCm39)	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 25,095,636 (GRCm39)	G494R	probably damaging	Het
Ankar	T	C	1: 72,697,701 (GRCm39)	D1034G	probably benign	Het
Aox3	T	A	1: 58,154,044 (GRCm39)	N23K	probably benign	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Bltp1	C	T	3: 36,974,385 (GRCm39)	T663I	probably benign	Het
Cacnb2	A	G	2: 14,986,251 (GRCm39)	K343E	probably damaging	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Cd93	A	T	2: 148,284,880 (GRCm39)	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,755,834 (GRCm39)	M1V	probably null	Het
Crat	T	C	2: 30,303,023 (GRCm39)	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,155,304 (GRCm39)	P94S	probably damaging	Het
Dtx3	A	G	10: 127,029,058 (GRCm39)	I60T	possibly damaging	Het
Filip1l	T	C	16: 57,327,131 (GRCm39)	S54P	probably benign	Het
Gm12887	A	T	4: 121,479,299 (GRCm39)	M1K	probably null	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Insyn2b	A	T	11: 34,353,143 (GRCm39)	E395V	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Irak2	A	G	6: 113,667,817 (GRCm39)	E466G	probably damaging	Het
Irgm2	C	T	11: 58,110,304 (GRCm39)		probably benign	Het
Jak3	T	A	8: 72,138,189 (GRCm39)	V880D	probably damaging	Het
Jmy	G	T	13: 93,635,433 (GRCm39)	P128T	probably benign	Het
Kif20a	A	G	18: 34,765,091 (GRCm39)	N775S	probably benign	Het
Kremen1	G	A	11: 5,193,881 (GRCm39)	Q50*	probably null	Het
Lrrc71	A	G	3: 87,648,298 (GRCm39)	I438T	probably benign	Het
Map3k1	T	C	13: 111,905,028 (GRCm39)	T374A	probably benign	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Mta1	T	C	12: 113,099,447 (GRCm39)	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,837,325 (GRCm39)	Q13L	probably benign	Het
Nbas	A	G	12: 13,443,344 (GRCm39)	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,767,660 (GRCm39)	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,310,137 (GRCm39)	T467S	probably damaging	Het
Or4f17-ps1	C	T	2: 111,358,546 (GRCm39)	R314C	probably damaging	Het
Or7g30	T	A	9: 19,352,886 (GRCm39)	L226I	probably damaging	Het
Pam	A	G	1: 97,811,849 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,876,631 (GRCm39)	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,326,762 (GRCm39)	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,094,376 (GRCm39)	S71P	probably benign	Het
Ptprq	A	T	10: 107,522,144 (GRCm39)	Y602*	probably null	Het
Rfx4	A	T	10: 84,650,558 (GRCm39)	M84L	probably benign	Het
Rfx7	A	T	9: 72,526,672 (GRCm39)	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf216	A	T	5: 143,078,845 (GRCm39)	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,541,097 (GRCm39)	V402A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sart3	A	G	5: 113,909,479 (GRCm39)	M73T	probably benign	Het
Scn10a	G	T	9: 119,460,610 (GRCm39)	T1088K	probably damaging	Het
Senp2	T	C	16: 21,830,304 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,450,151 (GRCm39)	N92D	probably benign	Het
Sipa1	A	T	19: 5,704,117 (GRCm39)	L735Q	probably damaging	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,988,820 (GRCm39)	S296T	probably benign	Het
Spc24	T	C	9: 21,667,498 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,062,165 (GRCm39)	S806P	probably damaging	Het
Tgm3	A	T	2: 129,886,509 (GRCm39)	K577*	probably null	Het
Wscd2	A	G	5: 113,699,045 (GRCm39)	D200G	probably benign	Het
Xpo6	T	C	7: 125,773,354 (GRCm39)	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,310,991 (GRCm39)	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,161,041 (GRCm39)	K375*	probably null	Het

Other mutations in Or13a20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Or13a20	APN	7	140,232,389 (GRCm39)	missense	probably benign	0.00
IGL01071:Or13a20	APN	7	140,232,827 (GRCm39)	missense	possibly damaging	0.76
IGL02590:Or13a20	APN	7	140,232,305 (GRCm39)	splice site	probably null
IGL02694:Or13a20	APN	7	140,232,093 (GRCm39)	missense	probably damaging	0.99
R0071:Or13a20	UTSW	7	140,232,170 (GRCm39)	missense	probably benign	0.00
R0071:Or13a20	UTSW	7	140,232,170 (GRCm39)	missense	probably benign	0.00
R0089:Or13a20	UTSW	7	140,232,224 (GRCm39)	missense	probably damaging	0.99
R0586:Or13a20	UTSW	7	140,231,976 (GRCm39)	missense	probably benign	0.35
R1209:Or13a20	UTSW	7	140,231,927 (GRCm39)	missense	probably benign	0.03
R1491:Or13a20	UTSW	7	140,232,650 (GRCm39)	missense	probably damaging	1.00
R1781:Or13a20	UTSW	7	140,232,419 (GRCm39)	missense	probably damaging	0.99
R4060:Or13a20	UTSW	7	140,232,033 (GRCm39)	missense	probably damaging	1.00
R4236:Or13a20	UTSW	7	140,232,653 (GRCm39)	missense	probably damaging	1.00
R4299:Or13a20	UTSW	7	140,232,156 (GRCm39)	missense	probably benign	0.00
R4398:Or13a20	UTSW	7	140,232,741 (GRCm39)	missense	possibly damaging	0.65
R4675:Or13a20	UTSW	7	140,232,074 (GRCm39)	missense	probably damaging	1.00
R4937:Or13a20	UTSW	7	140,232,534 (GRCm39)	missense	probably benign	0.00
R5854:Or13a20	UTSW	7	140,232,491 (GRCm39)	missense	probably benign	0.03
R6124:Or13a20	UTSW	7	140,232,507 (GRCm39)	missense	probably damaging	1.00
R7092:Or13a20	UTSW	7	140,232,150 (GRCm39)	missense	probably benign	0.16
R7167:Or13a20	UTSW	7	140,232,466 (GRCm39)	nonsense	probably null
R7846:Or13a20	UTSW	7	140,232,374 (GRCm39)	missense	probably damaging	0.96
R7896:Or13a20	UTSW	7	140,232,814 (GRCm39)	missense	probably benign	0.00
R8080:Or13a20	UTSW	7	140,232,387 (GRCm39)	missense	probably benign	0.05
R8847:Or13a20	UTSW	7	140,232,326 (GRCm39)	missense	possibly damaging	0.80
R8926:Or13a20	UTSW	7	140,232,113 (GRCm39)	missense	probably benign	0.03
R9391:Or13a20	UTSW	7	140,232,272 (GRCm39)	missense	probably damaging	0.99
R9414:Or13a20	UTSW	7	140,232,263 (GRCm39)	missense	probably damaging	0.96
R9484:Or13a20	UTSW	7	140,231,904 (GRCm39)	missense	probably benign	0.00
Z1177:Or13a20	UTSW	7	140,232,700 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACCCACTTCTTCTGTGAGATAC -3'
(R):5'- GAAAGAGGCCAACATCCTGC -3'

Sequencing Primer
(F):5'- TGTGAGATACCCCCACTCC -3'
(R):5'- CCCAAGGCAAGCTTGACATC -3'

Posted On

2015-06-12