Mutagenetix > Incidental Mutation

Incidental Mutation 'R8150:Or52ae7'

632909

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

067576-MU

Accession Numbers

Essential gene?

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

Stock #

R8150 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103119248-103120198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103119459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 71 (D71G)

Ref Sequence

ENSEMBL: ENSMUSP00000150595 (fasta)

Gene Model

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

AlphaFold

E9Q564

Predicted Effect

probably damaging
Transcript: ENSMUST00000213546
AA Change: D71G

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,538,635 (GRCm39)	M129L	probably benign	Het
Aadacl2fm1	A	G	3: 59,843,558 (GRCm39)	D84G	probably damaging	Het
Abca2	T	C	2: 25,337,393 (GRCm39)	I2416T	probably damaging	Het
Abca3	A	G	17: 24,615,522 (GRCm39)	D871G	probably benign	Het
Akap9	C	T	5: 4,011,982 (GRCm39)	T895I	probably damaging	Het
Aldh8a1	A	G	10: 21,271,444 (GRCm39)	E390G	probably damaging	Het
Ank2	T	A	3: 126,741,162 (GRCm39)	D1574V		Het
Blmh	T	C	11: 76,859,455 (GRCm39)	V352A	probably benign	Het
Cacna1i	T	C	15: 80,259,540 (GRCm39)	L1270P	probably damaging	Het
Ccdc80	T	A	16: 44,947,792 (GRCm39)	H923Q	probably damaging	Het
Cdc27	G	A	11: 104,406,286 (GRCm39)	H610Y	probably damaging	Het
Cep126	T	C	9: 8,101,791 (GRCm39)	I248V	probably benign	Het
Ces5a	T	C	8: 94,257,430 (GRCm39)	N125S	probably damaging	Het
Chd3	G	A	11: 69,254,510 (GRCm39)	H201Y	probably benign	Het
Cpeb1	T	C	7: 81,007,152 (GRCm39)	T292A	probably damaging	Het
Gli2	G	A	1: 118,763,558 (GRCm39)	T1531I	probably damaging	Het
Gm6871	T	C	7: 41,197,185 (GRCm39)	T7A		Het
Kank1	A	G	19: 25,388,163 (GRCm39)	D612G	possibly damaging	Het
Lhcgr	AT	ATT	17: 89,049,677 (GRCm39)	615	probably null	Het
Mfsd6	T	A	1: 52,747,800 (GRCm39)	D355V	probably benign	Het
Myo7a	T	C	7: 97,712,846 (GRCm39)	K1710E	probably benign	Het
Or13d1	C	G	4: 52,970,788 (GRCm39)	H56D	probably damaging	Het
Pcdha8	G	A	18: 37,126,264 (GRCm39)	V249M	probably damaging	Het
Pglyrp3	A	G	3: 91,933,790 (GRCm39)	D145G	probably benign	Het
Pkhd1l1	A	G	15: 44,410,055 (GRCm39)	K2521E	possibly damaging	Het
Pld3	A	G	7: 27,232,086 (GRCm39)	V398A	probably damaging	Het
Plxnb1	A	T	9: 108,941,146 (GRCm39)	T1642S	probably damaging	Het
Ppp2r1a	T	G	17: 21,179,700 (GRCm39)	V348G	possibly damaging	Het
Prdm2	C	A	4: 142,859,303 (GRCm39)	C1329F	possibly damaging	Het
Ric8a	G	T	7: 140,441,269 (GRCm39)	G423V	probably damaging	Het
Rnf17	A	G	14: 56,658,593 (GRCm39)	D94G	probably benign	Het
Serpina3f	T	C	12: 104,185,769 (GRCm39)	F325L	probably damaging	Het
Sin3a	T	A	9: 57,034,568 (GRCm39)	V1247E	possibly damaging	Het
Skint5	C	A	4: 113,798,087 (GRCm39)	M165I	probably benign	Het
Slc19a3	T	G	1: 83,000,216 (GRCm39)	Y267S	probably damaging	Het
Slc22a27	A	T	19: 7,887,390 (GRCm39)	F196Y	possibly damaging	Het
Slc5a4b	A	T	10: 75,939,680 (GRCm39)	I152N	possibly damaging	Het
Tbc1d9	T	A	8: 83,982,519 (GRCm39)	V768E	probably damaging	Het
Tex15	T	A	8: 34,063,534 (GRCm39)	M988K	probably benign	Het
Top2b	T	A	14: 16,393,291 (GRCm38)	F317I	probably damaging	Het
Wfdc8	A	T	2: 164,439,455 (GRCm39)	L309*	probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp949	C	T	9: 88,452,053 (GRCm39)	T541I	probably benign	Het
Zkscan16	T	A	4: 58,952,407 (GRCm39)	I235N	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
R6762:Or52ae7	UTSW	7	103,119,596 (GRCm39)	missense	probably benign	0.02
R7888:Or52ae7	UTSW	7	103,120,006 (GRCm39)	nonsense	probably null
R7980:Or52ae7	UTSW	7	103,119,504 (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'- CTCCCTGCTGAGAAGATTATCCTG -3'
(R):5'- TGCAAATGGCCACAAAGCG -3'

Sequencing Primer
(F):5'- TGGTAAATGATACAACACATCACTAC -3'
(R):5'- TGGCCACAAAGCGATCAAAAG -3'

Posted On

2020-06-30