Mutagenetix > Incidental Mutation

Incidental Mutation 'R5362:Or52ad1'

422874

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

043264-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5362 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102995189-102996133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102995454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 227 (V227A)

Ref Sequence

ENSEMBL: ENSMUSP00000148967 (fasta)

Gene Model

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

AlphaFold

E9PUN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000056222
AA Change: V227A

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

SMART Domains

Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: V227A

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

probably damaging
Transcript: ENSMUST00000215042
AA Change: V227A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	T	6: 133,271,445 (GRCm39)	D163V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd17	G	A	5: 90,413,404 (GRCm39)	A1170V	probably damaging	Het
Ano1	A	C	7: 144,202,337 (GRCm39)		probably benign	Het
Atl2	T	C	17: 80,168,890 (GRCm39)	N37D	probably damaging	Het
C2cd5	T	C	6: 143,028,969 (GRCm39)	Y90C	probably damaging	Het
Carm1	A	G	9: 21,498,655 (GRCm39)	N499S	probably benign	Het
Ccdc47	G	A	11: 106,099,039 (GRCm39)		probably null	Het
Cd300lf	G	T	11: 115,007,940 (GRCm39)	L251M	probably damaging	Het
Cfap74	A	G	4: 155,522,623 (GRCm39)	S670G	probably damaging	Het
Clec4a1	A	G	6: 122,909,196 (GRCm39)	D188G	probably damaging	Het
Col4a1	T	C	8: 11,295,760 (GRCm39)		probably benign	Het
Csn2	T	A	5: 87,842,508 (GRCm39)	H165L	probably benign	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Dlx3	T	C	11: 95,011,326 (GRCm39)	V60A	possibly damaging	Het
Elp1	A	C	4: 56,778,969 (GRCm39)	I616S	probably damaging	Het
Fam221a	A	G	6: 49,353,049 (GRCm39)	H21R	probably damaging	Het
Foxj3	T	A	4: 119,477,340 (GRCm39)	H349Q	unknown	Het
Gm37240	G	A	3: 84,423,000 (GRCm39)	T123I	probably damaging	Het
Gpc1	A	T	1: 92,782,615 (GRCm39)	T121S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itga2b	A	G	11: 102,351,961 (GRCm39)	V512A	probably damaging	Het
Itgae	A	G	11: 73,002,675 (GRCm39)	Y144C	probably damaging	Het
Izumo3	A	T	4: 92,035,037 (GRCm39)	I60K	possibly damaging	Het
Kif9	G	A	9: 110,319,012 (GRCm39)	V159M	probably damaging	Het
Lrp1b	T	C	2: 41,265,914 (GRCm39)	D229G	probably damaging	Het
Nkpd1	G	A	7: 19,257,193 (GRCm39)	G324D	probably damaging	Het
Nrp2	T	A	1: 62,808,221 (GRCm39)	Y617N	probably benign	Het
Ocm	T	C	5: 143,960,674 (GRCm39)	D91G	probably damaging	Het
Or4l15	A	G	14: 50,197,986 (GRCm39)	L181P	possibly damaging	Het
Or52n2b	A	G	7: 104,565,834 (GRCm39)	I223T	probably damaging	Het
Or6c70	T	C	10: 129,710,422 (GRCm39)	E68G	probably damaging	Het
Pex5l	G	A	3: 33,047,065 (GRCm39)	A295V	probably damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Pou2f2	G	A	7: 24,792,320 (GRCm39)	P512S	probably benign	Het
Prpf8	G	A	11: 75,397,236 (GRCm39)	R2023Q	possibly damaging	Het
Ptprd	A	T	4: 76,047,050 (GRCm39)	S399R	probably damaging	Het
Qrich2	T	C	11: 116,337,976 (GRCm39)	Y1889C	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ranbp6	G	T	19: 29,789,128 (GRCm39)	T408K	probably benign	Het
Scn7a	G	A	2: 66,530,342 (GRCm39)	R668C	probably damaging	Het
Sertad4	T	C	1: 192,529,414 (GRCm39)	N134S	probably damaging	Het
Spg11	G	T	2: 121,891,481 (GRCm39)	N1963K	probably damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Top2a	T	C	11: 98,909,738 (GRCm39)	N120S	probably damaging	Het
Trappc9	C	T	15: 72,930,066 (GRCm39)	E97K	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,386 (GRCm39)	T102S	probably benign	Het
Vmn2r99	G	T	17: 19,599,601 (GRCm39)	M428I	probably benign	Het
Zfp62	A	T	11: 49,107,439 (GRCm39)	H510L	probably 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
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
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'- TTGACCATAGGAGGCACCAG -3'
(R):5'- CACTGGCTATACTGGCAAGG -3'

Sequencing Primer
(F):5'- AGGCACCAGGAAATATAAATTGTC -3'
(R):5'- AGTAGCAGTGGTCACCCCTG -3'

Posted On

2016-08-04