Mutagenetix > Incidental Mutation

Incidental Mutation 'R5723:Or52ad1'

452323

Institutional Source

Beutler Lab

Gene Symbol

Or52ad1

Ensembl Gene

ENSMUSG00000045540

Gene Name

olfactory receptor family 52 subfamily AD member 1

Synonyms

Olfr600, MOR39-1, GA_x6K02T2PBJ9-6056235-6055291

MMRRC Submission

043341-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102995189-102996133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102995826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 103 (M103K)

Ref Sequence

ENSEMBL: ENSMUSP00000148967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056222] [ENSMUST00000215042]

AlphaFold

E9PUN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056222
AA Change: M103K

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: M103K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.1e-97	PFAM
Pfam:7TM_GPCR_Srsx	37	226	1.2e-12	PFAM
Pfam:7tm_1	43	305	7.2e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215042
AA Change: M103K

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.2164

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,844,445 (GRCm39)	D862G	possibly damaging	Het
Abcg2	C	T	6: 58,655,336 (GRCm39)	Q109*	probably null	Het
Acbd7	A	G	2: 3,341,455 (GRCm39)	Y33C	probably damaging	Het
Actl7a	A	G	4: 56,744,310 (GRCm39)	D279G	probably damaging	Het
Akr1c18	A	T	13: 4,194,328 (GRCm39)	Y110*	probably null	Het
Akt1	T	C	12: 112,623,704 (GRCm39)	K276E	probably damaging	Het
Bcas2	A	G	3: 103,084,608 (GRCm39)		probably benign	Het
C9	T	A	15: 6,516,297 (GRCm39)	Y367N	probably damaging	Het
Cd163	A	G	6: 124,296,022 (GRCm39)	T789A	probably benign	Het
Cers6	T	A	2: 68,938,789 (GRCm39)	S344T	probably benign	Het
Clcn4	A	G	7: 7,294,681 (GRCm39)	V329A	probably damaging	Het
Crisp3	A	C	17: 40,546,804 (GRCm39)	V38G	probably damaging	Het
Cyp2b23	A	G	7: 26,380,821 (GRCm39)	F135L	probably benign	Het
Cyrib	A	T	15: 63,828,447 (GRCm39)		probably null	Het
Ddr2	A	T	1: 169,816,089 (GRCm39)	C539*	probably null	Het
Efna5	T	A	17: 62,914,458 (GRCm39)	D189V	probably damaging	Het
Endov	G	T	11: 119,390,675 (GRCm39)	V70F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem3	A	T	8: 81,340,026 (GRCm39)	H773L	probably benign	Het
Gm43302	T	A	5: 105,365,352 (GRCm39)	Q552L	possibly damaging	Het
Gramd1a	A	T	7: 30,833,908 (GRCm39)	W506R	probably damaging	Het
Hmcn1	C	T	1: 150,570,600 (GRCm39)	V2188I	possibly damaging	Het
Ifit1bl2	A	G	19: 34,597,458 (GRCm39)	F53L	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Krt16	A	G	11: 100,139,272 (GRCm39)	Y149H	probably damaging	Het
Krtap5-2	A	T	7: 141,728,742 (GRCm39)	C313S	unknown	Het
Mreg	A	G	1: 72,201,527 (GRCm39)	I155T	probably damaging	Het
Nans	T	C	4: 46,499,083 (GRCm39)	F130S	probably benign	Het
Nox4	T	C	7: 86,954,181 (GRCm39)		probably benign	Het
Or3a1d	C	A	11: 74,237,954 (GRCm39)	W32L	possibly damaging	Het
Or56a3	C	A	7: 104,740,309 (GRCm39)	C179F	probably damaging	Het
Or5k15	A	T	16: 58,709,976 (GRCm39)	Y202*	probably null	Het
Pgap6	CGGGG	CGGGGG	17: 26,339,536 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,784,497 (GRCm39)	T348A	probably benign	Het
Poteg	T	C	8: 27,940,020 (GRCm39)		probably null	Het
Prom1	T	G	5: 44,172,236 (GRCm39)	N585T	probably benign	Het
Rfc1	T	C	5: 65,434,769 (GRCm39)	S666G	probably null	Het
Rilp	A	G	11: 75,403,687 (GRCm39)		probably benign	Het
Serpina3i	A	G	12: 104,231,759 (GRCm39)	E132G	probably benign	Het
Serpina3m	T	C	12: 104,360,170 (GRCm39)	V414A	probably damaging	Het
Sfrp4	T	C	13: 19,807,868 (GRCm39)	F89S	probably damaging	Het
Stat5a	A	G	11: 100,772,900 (GRCm39)	H692R	probably benign	Het
Tex29	A	T	8: 11,904,279 (GRCm39)		probably benign	Het
Tmc5	T	A	7: 118,271,416 (GRCm39)	F910I	probably damaging	Het
Tusc3	G	A	8: 39,538,651 (GRCm39)	G230D	possibly damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Upb1	A	T	10: 75,264,105 (GRCm39)	I184F	probably damaging	Het
Vamp4	T	C	1: 162,401,932 (GRCm39)	F5L	possibly damaging	Het
Zfp583	C	A	7: 6,326,674 (GRCm39)	Q68H	probably damaging	Het
Zfp831	A	C	2: 174,487,200 (GRCm39)	H625P	probably benign	Het
Zfp941	G	A	7: 140,392,763 (GRCm39)		probably benign	Het

Other mutations in Or52ad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Or52ad1	APN	7	102,995,386 (GRCm39)	missense	probably benign	0.15
IGL02239:Or52ad1	APN	7	102,995,805 (GRCm39)	missense	probably damaging	1.00
IGL02285:Or52ad1	APN	7	102,995,245 (GRCm39)	nonsense	probably null
IGL02547:Or52ad1	APN	7	102,995,451 (GRCm39)	missense	probably damaging	1.00
IGL03149:Or52ad1	APN	7	102,996,056 (GRCm39)	missense	probably benign	0.00
R0193:Or52ad1	UTSW	7	102,995,411 (GRCm39)	missense	possibly damaging	0.74
R0304:Or52ad1	UTSW	7	102,995,918 (GRCm39)	missense	probably damaging	1.00
R0454:Or52ad1	UTSW	7	102,996,085 (GRCm39)	missense	probably benign	0.02
R0622:Or52ad1	UTSW	7	102,996,064 (GRCm39)	missense	probably damaging	0.97
R1988:Or52ad1	UTSW	7	102,995,316 (GRCm39)	missense	possibly damaging	0.88
R1989:Or52ad1	UTSW	7	102,995,316 (GRCm39)	missense	possibly damaging	0.88
R2937:Or52ad1	UTSW	7	102,995,272 (GRCm39)	missense	probably benign	0.18
R4426:Or52ad1	UTSW	7	102,995,290 (GRCm39)	missense	probably damaging	1.00
R5362:Or52ad1	UTSW	7	102,995,454 (GRCm39)	missense	probably damaging	1.00
R6793:Or52ad1	UTSW	7	102,995,473 (GRCm39)	missense	probably benign	0.00
R6863:Or52ad1	UTSW	7	102,996,123 (GRCm39)	missense	possibly damaging	0.86
R6935:Or52ad1	UTSW	7	102,996,002 (GRCm39)	missense	probably damaging	1.00
R6983:Or52ad1	UTSW	7	102,996,022 (GRCm39)	missense	probably benign	0.00
R7262:Or52ad1	UTSW	7	102,995,764 (GRCm39)	missense	probably damaging	1.00
R7313:Or52ad1	UTSW	7	102,995,538 (GRCm39)	missense	probably benign	0.06
R7774:Or52ad1	UTSW	7	102,995,737 (GRCm39)	missense	possibly damaging	0.85
R9246:Or52ad1	UTSW	7	102,995,908 (GRCm39)	missense	probably damaging	0.96
R9542:Or52ad1	UTSW	7	102,995,569 (GRCm39)	missense	probably benign	0.00
X0018:Or52ad1	UTSW	7	102,996,106 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGCCATGTACGCACAGTAG -3'
(R):5'- AATCCTCCCATGGATGGTTCTC -3'

Sequencing Primer
(F):5'- ACTAATGACCTGGGTTTGGAATC -3'
(R):5'- TAGTAACCATCATAGGAAATGTCACC -3'

Posted On

2017-01-03