Mutagenetix > Incidental Mutation

Incidental Mutation 'R6762:Or52ae7'

531742

Institutional Source

Beutler Lab

Gene Symbol

Or52ae7

Ensembl Gene

ENSMUSG00000073948

Gene Name

olfactory receptor family 52 subfamily AE member 7

Synonyms

MOR26-3, GA_x6K02T2PBJ9-6191595-6192545, Olfr608

MMRRC Submission

044878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103119248-103120198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 103119596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 117 (V117L)

Ref Sequence

ENSEMBL: ENSMUSP00000150595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213546]

AlphaFold

E9Q564

Predicted Effect

probably benign
Transcript: ENSMUST00000213546
AA Change: V117L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,867 (GRCm39)	Y27H	probably benign	Het
Angptl3	T	A	4: 98,925,654 (GRCm39)	S327T	possibly damaging	Het
Arl6ip4	GGAAGAAGAAGAAGAAGAA	GGAAGAAGAAGAAGAAGAAGAA	5: 124,255,113 (GRCm39)		probably benign	Het
Cyp2s1	A	T	7: 25,507,495 (GRCm39)	L318H	probably damaging	Het
Dnah14	T	C	1: 181,584,824 (GRCm39)	L3185P	probably damaging	Het
Dnah7b	T	C	1: 46,263,902 (GRCm39)	V2128A	probably benign	Het
Ehhadh	A	T	16: 21,581,209 (GRCm39)	F594L	probably benign	Het
En2	A	G	5: 28,375,351 (GRCm39)	N298S	possibly damaging	Het
Epha5	T	A	5: 84,479,585 (GRCm39)	N140Y	probably damaging	Het
Fam151b	C	T	13: 92,604,558 (GRCm39)	V144I	possibly damaging	Het
Fanca	C	A	8: 123,998,042 (GRCm39)	A1215S	probably benign	Het
Fancd2	T	A	6: 113,562,977 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,144,308 (GRCm39)		probably null	Het
Gm4513	T	C	7: 20,328,118 (GRCm39)	N31S	probably benign	Het
Hspg2	A	T	4: 137,279,114 (GRCm39)	I3066F	possibly damaging	Het
Krt10	T	C	11: 99,277,883 (GRCm39)	T355A	possibly damaging	Het
Lims1	C	A	10: 58,248,367 (GRCm39)	H275N	probably damaging	Het
Map3k19	C	T	1: 127,775,001 (GRCm39)	G112D	probably damaging	Het
Mdn1	T	A	4: 32,676,786 (GRCm39)	N619K	possibly damaging	Het
Mtor	A	G	4: 148,622,938 (GRCm39)	T1977A	possibly damaging	Het
Nos2	T	G	11: 78,850,574 (GRCm39)	L1144R	possibly damaging	Het
Or6c68	G	A	10: 129,158,125 (GRCm39)	C211Y	probably damaging	Het
Or8k38	A	T	2: 86,488,188 (GRCm39)	F205I	probably benign	Het
Pals2	T	A	6: 50,157,418 (GRCm39)		probably null	Het
Pcdhga9	C	A	18: 37,870,321 (GRCm39)	S50Y	probably damaging	Het
Pfn4	T	A	12: 4,825,487 (GRCm39)	M108K	probably damaging	Het
Prep	T	C	10: 45,024,219 (GRCm39)		probably null	Het
Qtrt1	T	A	9: 21,323,378 (GRCm39)	H76Q	probably damaging	Het
Rpa1	T	A	11: 75,231,171 (GRCm39)	S73C	possibly damaging	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Snapc3	T	C	4: 83,353,495 (GRCm39)	L178P	probably damaging	Het
Sptbn4	A	G	7: 27,093,633 (GRCm39)	F1340L	probably damaging	Het
Srd5a3	T	A	5: 76,301,398 (GRCm39)	I85K	probably benign	Het
Taar2	C	T	10: 23,817,300 (GRCm39)	T280M	probably damaging	Het
Tgfb3	T	C	12: 86,116,237 (GRCm39)	D177G	probably benign	Het
Tpt1	A	G	14: 76,083,821 (GRCm39)	D94G	probably benign	Het
Trpm4	A	G	7: 44,954,240 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,763,171 (GRCm39)	R746H	probably benign	Het
Txndc2	T	C	17: 65,945,967 (GRCm39)	D70G	probably damaging	Het
Ugcg	T	A	4: 59,219,530 (GRCm39)	I289N	possibly damaging	Het
Vmn2r2	C	G	3: 64,041,870 (GRCm39)	D282H	probably damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Wdpcp	C	T	11: 21,671,244 (GRCm39)	T495I	probably benign	Het
Zfp961	T	A	8: 72,719,958 (GRCm39)	C51S	possibly damaging	Het
Zxdc	C	T	6: 90,359,165 (GRCm39)	A599V	probably benign	Het

Other mutations in Or52ae7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Or52ae7	APN	7	103,119,530 (GRCm39)	missense	probably damaging	1.00
IGL02428:Or52ae7	APN	7	103,119,590 (GRCm39)	missense	probably benign	0.03
IGL02832:Or52ae7	APN	7	103,119,905 (GRCm39)	missense	probably benign	0.00
R0546:Or52ae7	UTSW	7	103,119,907 (GRCm39)	missense	possibly damaging	0.65
R1518:Or52ae7	UTSW	7	103,119,249 (GRCm39)	start codon destroyed	probably null	0.98
R1696:Or52ae7	UTSW	7	103,119,384 (GRCm39)	missense	probably benign	0.18
R1735:Or52ae7	UTSW	7	103,119,353 (GRCm39)	missense	possibly damaging	0.83
R2927:Or52ae7	UTSW	7	103,120,089 (GRCm39)	missense	probably damaging	1.00
R3856:Or52ae7	UTSW	7	103,119,867 (GRCm39)	missense	probably damaging	1.00
R4374:Or52ae7	UTSW	7	103,119,278 (GRCm39)	missense	probably damaging	0.97
R4375:Or52ae7	UTSW	7	103,119,278 (GRCm39)	missense	probably damaging	0.97
R4377:Or52ae7	UTSW	7	103,119,278 (GRCm39)	missense	probably damaging	0.97
R5059:Or52ae7	UTSW	7	103,119,488 (GRCm39)	nonsense	probably null
R5174:Or52ae7	UTSW	7	103,119,610 (GRCm39)	missense	probably benign	0.14
R5579:Or52ae7	UTSW	7	103,120,121 (GRCm39)	missense	probably damaging	1.00
R7888:Or52ae7	UTSW	7	103,120,006 (GRCm39)	nonsense	probably null
R7980:Or52ae7	UTSW	7	103,119,504 (GRCm39)	missense	probably damaging	1.00
R8150:Or52ae7	UTSW	7	103,119,459 (GRCm39)	missense	probably damaging	1.00
R8966:Or52ae7	UTSW	7	103,119,524 (GRCm39)	missense	probably benign	0.07
R9369:Or52ae7	UTSW	7	103,119,555 (GRCm39)	missense	probably benign	0.14
R9683:Or52ae7	UTSW	7	103,119,157 (GRCm39)	start gained	probably benign
R9713:Or52ae7	UTSW	7	103,119,914 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- CTATCAAGCTGGAGCCAAGC -3'
(R):5'- ATGTGCTCACAGTAGGTATGAG -3'

Sequencing Primer
(F):5'- AAGCCTCCACCAGCCTATGTATTTC -3'
(R):5'- CAGTAGGTATGAGGGATTATATAGCC -3'

Posted On

2018-08-29