Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Or52a20'

176402

Institutional Source

Beutler Lab

Gene Symbol

Or52a20

Ensembl Gene

ENSMUSG00000094822

Gene Name

olfactory receptor family 52 subfamily A member 20

Synonyms

GA_x6K02T2PBJ9-6440320-6440766, GA_x6K02T2L9TJ-1933-2295, Olfr243, Olfr627, MOR22-4

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103365803-103366753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103365858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 19 (I19T)

Ref Sequence

ENSEMBL: ENSMUSP00000150329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]

AlphaFold

E9PV96

Predicted Effect

probably damaging
Transcript: ENSMUST00000098194
AA Change: I19T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: I19T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	1.6e-105	PFAM
Pfam:7tm_1	43	295	4.5e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215723
AA Change: I19T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.5421

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	Het

Other mutations in Or52a20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Or52a20	APN	7	103,366,328 (GRCm39)	missense	probably benign	0.06
IGL01550:Or52a20	APN	7	103,366,204 (GRCm39)	missense	probably damaging	0.98
IGL02698:Or52a20	APN	7	103,366,485 (GRCm39)	missense	probably damaging	1.00
IGL02795:Or52a20	APN	7	103,366,090 (GRCm39)	missense	probably benign	0.24
IGL02949:Or52a20	APN	7	103,366,427 (GRCm39)	missense	probably benign	0.00
IGL03326:Or52a20	APN	7	103,366,069 (GRCm39)	missense	probably benign	0.12
R1676:Or52a20	UTSW	7	103,366,319 (GRCm39)	missense	probably benign
R1973:Or52a20	UTSW	7	103,365,804 (GRCm39)	start codon destroyed	probably null	0.93
R2897:Or52a20	UTSW	7	103,366,749 (GRCm39)	missense	probably benign
R4667:Or52a20	UTSW	7	103,365,845 (GRCm39)	missense	probably benign	0.00
R4883:Or52a20	UTSW	7	103,365,914 (GRCm39)	missense	probably benign
R4955:Or52a20	UTSW	7	103,365,912 (GRCm39)	missense	probably benign	0.42
R5322:Or52a20	UTSW	7	103,366,319 (GRCm39)	missense	probably benign
R5384:Or52a20	UTSW	7	103,366,562 (GRCm39)	missense	probably benign	0.12
R5386:Or52a20	UTSW	7	103,366,562 (GRCm39)	missense	probably benign	0.12
R5523:Or52a20	UTSW	7	103,366,687 (GRCm39)	nonsense	probably null
R7307:Or52a20	UTSW	7	103,366,173 (GRCm39)	missense	probably damaging	0.96
R7743:Or52a20	UTSW	7	103,366,560 (GRCm39)	missense	possibly damaging	0.49
R8006:Or52a20	UTSW	7	103,366,532 (GRCm39)	missense	probably damaging	0.98
R9106:Or52a20	UTSW	7	103,366,737 (GRCm39)	missense	probably benign
R9581:Or52a20	UTSW	7	103,365,788 (GRCm39)	start gained	probably benign
R9681:Or52a20	UTSW	7	103,366,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCATGTGAAATCCCATTCAGTCTC -3'
(R):5'- TGGCAAACAAGATGCCTGACTCAATAC -3'

Sequencing Primer
(F):5'- GAAATCCCATTCAGTCTCTGATTGTG -3'
(R):5'- GTGTGAATCAGCCACATCTG -3'

Posted On

2014-04-24