Mutagenetix > Incidental Mutation

Incidental Mutation 'R1989:Or52ad1'

223026

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

040001-MU

Accession Numbers

Essential gene?

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

Stock #

R1989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102995189-102996133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102995316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 273 (Y273F)

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: Y273F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: Y273F

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: Y273F

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
Acaca	T	C	11: 84,153,355 (GRCm39)	M921T	probably damaging	Het
Actn2	A	T	13: 12,355,276 (GRCm39)	W36R	probably benign	Het
Adcy9	A	T	16: 4,116,591 (GRCm39)	V643D	probably damaging	Het
Agbl4	A	T	4: 111,423,879 (GRCm39)	T302S	possibly damaging	Het
Akap13	A	G	7: 75,354,264 (GRCm39)	N1795S	probably benign	Het
Ang	T	A	14: 51,339,008 (GRCm39)	C50S	probably damaging	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Asxl3	T	C	18: 22,585,420 (GRCm39)	V115A	probably damaging	Het
B4galt5	A	T	2: 167,146,923 (GRCm39)	W304R	probably damaging	Het
Bptf	T	C	11: 106,965,652 (GRCm39)	K1118E	probably damaging	Het
Cacna1b	T	C	2: 24,611,386 (GRCm39)	Y335C	probably damaging	Het
Catsperb	A	T	12: 101,568,970 (GRCm39)	I881F	probably damaging	Het
Ccn1	A	T	3: 145,353,498 (GRCm39)	Y355N	probably benign	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cyfip2	A	T	11: 46,144,825 (GRCm39)	Y676*	probably null	Het
Cyp2f2	A	G	7: 26,828,628 (GRCm39)	D90G	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
E2f8	T	C	7: 48,523,028 (GRCm39)	E349G	probably benign	Het
Ebf1	T	C	11: 44,512,793 (GRCm39)	M134T	probably damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Focad	T	C	4: 88,151,021 (GRCm39)		probably null	Het
Gabra1	A	T	11: 42,045,842 (GRCm39)	D89E	probably damaging	Het
Hip1r	G	T	5: 124,127,761 (GRCm39)	V90F	probably damaging	Het
Ifi213	C	A	1: 173,396,374 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,716 (GRCm39)	I136T	probably benign	Het
Kmt2c	A	G	5: 25,703,542 (GRCm39)	S3P	possibly damaging	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,931,432 (GRCm39)	S43L	probably damaging	Het
Macf1	A	G	4: 123,391,519 (GRCm39)		probably null	Het
Mad1l1	A	G	5: 140,289,425 (GRCm39)	S167P	probably benign	Het
Maml3	G	T	3: 51,605,179 (GRCm39)	A64D	probably damaging	Het
Mgat4c	T	C	10: 102,214,020 (GRCm39)	M1T	probably null	Het
Mkrn2os	G	T	6: 115,566,311 (GRCm39)	T88K	probably damaging	Het
Mob3c	T	C	4: 115,688,754 (GRCm39)	Y96H	probably damaging	Het
Mpo	T	A	11: 87,694,298 (GRCm39)	I96N	probably damaging	Het
Mup17	T	A	4: 61,511,860 (GRCm39)	Y138F	probably benign	Het
Myh8	A	G	11: 67,183,550 (GRCm39)	I754V	probably benign	Het
Naa30	T	A	14: 49,415,597 (GRCm39)	L289*	probably null	Het
Nap1l4	A	C	7: 143,080,921 (GRCm39)	F292V	probably damaging	Het
Nek5	T	A	8: 22,601,185 (GRCm39)	N129Y	probably damaging	Het
Nlrp9a	A	G	7: 26,273,338 (GRCm39)	E880G	probably benign	Het
Nsun6	G	T	2: 15,042,995 (GRCm39)	N155K	probably benign	Het
Or2aj5	A	T	16: 19,425,407 (GRCm39)	Y4N	probably benign	Het
Or4c102	T	A	2: 88,422,943 (GRCm39)	I265K	probably damaging	Het
Or4f62	T	A	2: 111,986,722 (GRCm39)	I142N	probably benign	Het
Or52a33	A	T	7: 103,288,702 (GRCm39)	I215K	probably damaging	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8d23	T	C	9: 38,842,171 (GRCm39)	S235P	possibly damaging	Het
Palm3	G	A	8: 84,756,651 (GRCm39)	S721N	possibly damaging	Het
Ppp2r5d	C	T	17: 46,995,025 (GRCm39)	V559M	probably benign	Het
Ptgfr	A	T	3: 151,540,976 (GRCm39)	Y177*	probably null	Het
Rnase10	A	T	14: 51,247,095 (GRCm39)	I121L	probably benign	Het
Sall2	G	A	14: 52,551,896 (GRCm39)	P431L	probably damaging	Het
Sbf2	A	G	7: 109,948,130 (GRCm39)	V1194A	possibly damaging	Het
Scimp	T	C	11: 70,682,402 (GRCm39)	K105E	possibly damaging	Het
Scrt2	A	T	2: 151,924,007 (GRCm39)	D13V	probably damaging	Het
Snx19	A	G	9: 30,339,404 (GRCm39)	S181G	possibly damaging	Het
Spata2	G	A	2: 167,326,234 (GRCm39)	T195M	possibly damaging	Het
Sptbn4	A	G	7: 27,067,127 (GRCm39)	V614A	probably damaging	Het
Srpk2	G	A	5: 23,723,421 (GRCm39)	A565V	probably damaging	Het
Stard9	A	G	2: 120,531,887 (GRCm39)	I2715V	probably benign	Het
Sval1	A	G	6: 41,932,425 (GRCm39)	T92A	possibly damaging	Het
Synrg	T	C	11: 83,910,781 (GRCm39)		probably null	Het
Tlr12	T	C	4: 128,510,862 (GRCm39)	T463A	probably benign	Het
Tnxb	A	G	17: 34,902,351 (GRCm39)	H945R	probably benign	Het
Tnxb	A	T	17: 34,912,859 (GRCm39)	D1791V	probably damaging	Het
Topaz1	C	T	9: 122,579,190 (GRCm39)	T700I	possibly damaging	Het
Trappc8	A	G	18: 20,978,708 (GRCm39)	V796A	probably benign	Het
Trpm1	A	T	7: 63,858,780 (GRCm39)		probably null	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ttn	T	A	2: 76,581,285 (GRCm39)	N23203Y	probably damaging	Het
Ttn	A	T	2: 76,601,131 (GRCm39)	Y18781N	probably damaging	Het
Tuba3a	T	C	6: 125,258,216 (GRCm39)	N258S	probably damaging	Het
Upk1b	A	T	16: 38,604,603 (GRCm39)	W141R	possibly damaging	Het
Vars1	T	C	17: 35,230,814 (GRCm39)	F567L	possibly damaging	Het
Vcpip1	G	C	1: 9,815,788 (GRCm39)	A865G	probably benign	Het
Vmn2r22	A	T	6: 123,614,500 (GRCm39)	F363L	probably damaging	Het
Vmn2r66	A	T	7: 84,661,201 (GRCm39)	F10I	probably benign	Het
Wbp2	C	T	11: 115,971,047 (GRCm39)		probably null	Het
Yy1	T	C	12: 108,772,534 (GRCm39)	L270P	probably damaging	Het
Zan	A	T	5: 137,418,268 (GRCm39)	C2943*	probably null	Het
Zfp51	T	A	17: 21,676,582 (GRCm39)	Y18N	possibly damaging	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
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
R5723:Or52ad1	UTSW	7	102,995,826 (GRCm39)	missense	possibly damaging	0.85
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'- ACTTCTGGCTGTATATAGCACCC -3'
(R):5'- CCACATTGTCTATGGCCTCATG -3'

Sequencing Primer
(F):5'- GGCTGTATATAGCACCCAATCACATG -3'
(R):5'- GCCTCATGGTTATTGTAGCATC -3'

Posted On

2014-08-25