Mutagenetix > Incidental Mutation

Incidental Mutation 'R6644:Or51aa2'

525999

Institutional Source

Beutler Lab

Gene Symbol

Or51aa2

Ensembl Gene

ENSMUSG00000094119

Gene Name

olfactory receptor family 51 subfamily AA member 2

Synonyms

MOR15-3, EG545985, Olfr612, GA_x6K02T2PBJ9-6251685-6250741

MMRRC Submission

044765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103187468-103188439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103188265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 59 (V59F)

Ref Sequence

ENSEMBL: ENSMUSP00000149996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104879] [ENSMUST00000214269] [ENSMUST00000215663]

AlphaFold

L7N462

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104879
AA Change: V59F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100473
Gene: ENSMUSG00000094119
AA Change: V59F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.3e-109	PFAM
Pfam:7TM_GPCR_Srsx	37	309	4.7e-11	PFAM
Pfam:7tm_1	43	294	3.8e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214269
AA Change: V59F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215663
AA Change: V59F

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

100% (50/50)

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, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	T	10: 79,844,598 (GRCm39)	P1461L	probably damaging	Het
Abhd14a	T	C	9: 106,321,472 (GRCm39)	Y10C	probably damaging	Het
Adcy2	C	T	13: 68,816,671 (GRCm39)	V772M	possibly damaging	Het
Apob	A	G	12: 8,059,077 (GRCm39)	M2487V	probably damaging	Het
B4galnt1	T	C	10: 127,007,662 (GRCm39)		probably null	Het
Cabp7	C	T	11: 4,690,396 (GRCm39)	V76I	probably benign	Het
Cbr3	A	G	16: 93,487,399 (GRCm39)	Y194C	probably damaging	Het
Cdk18	G	A	1: 132,049,807 (GRCm39)	Q58*	probably null	Het
Cryba4	T	C	5: 112,394,628 (GRCm39)	D167G	probably damaging	Het
Czib	T	G	4: 107,752,119 (GRCm39)	I130S	probably damaging	Het
Dner	T	C	1: 84,373,428 (GRCm39)	N588S	probably damaging	Het
Dnm1l	T	C	16: 16,147,737 (GRCm39)	I343V	probably benign	Het
Eif1ad16	A	G	12: 87,985,460 (GRCm39)	F28L	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxw17	G	A	13: 50,577,255 (GRCm39)	R49Q	probably damaging	Het
Garin2	T	A	12: 78,762,060 (GRCm39)	D241E	probably damaging	Het
Gm10332	T	A	14: 55,057,616 (GRCm39)	F59I	probably damaging	Het
Gnai3	A	G	3: 108,030,852 (GRCm39)		probably null	Het
Helz	T	A	11: 107,523,087 (GRCm39)	M75K	possibly damaging	Het
Hnrnph3	C	T	10: 62,854,672 (GRCm39)		probably benign	Het
Ifi211	C	T	1: 173,733,118 (GRCm39)	C181Y	probably benign	Het
Immp1l	A	G	2: 105,767,390 (GRCm39)	K83R	probably damaging	Het
Itga6	G	A	2: 71,671,468 (GRCm39)	G740R	probably damaging	Het
Klhl1	T	C	14: 96,755,354 (GRCm39)	T134A	probably benign	Het
Klhl7	A	G	5: 24,354,244 (GRCm39)	D353G	probably damaging	Het
Map3k1	A	G	13: 111,888,983 (GRCm39)	S1325P	probably benign	Het
Map3k4	A	G	17: 12,451,297 (GRCm39)		probably null	Het
Meioc	G	A	11: 102,559,286 (GRCm39)		probably null	Het
Mfap5	T	C	6: 122,497,555 (GRCm39)	F26L	probably damaging	Het
Myo5a	A	G	9: 75,054,249 (GRCm39)	T386A	probably damaging	Het
Npc1l1	A	T	11: 6,164,013 (GRCm39)	L1266Q	probably damaging	Het
Npc1l1	G	T	11: 6,164,014 (GRCm39)	L1266M	probably damaging	Het
Or4c116	A	G	2: 88,942,325 (GRCm39)	M177T	probably benign	Het
Pbld1	T	A	10: 62,910,842 (GRCm39)	S233T	probably damaging	Het
Phf12	A	G	11: 77,916,918 (GRCm39)	*789W	probably null	Het
Sf3b2	A	T	19: 5,329,992 (GRCm39)		probably null	Het
Slc23a3	A	G	1: 75,105,191 (GRCm39)	I459T	probably damaging	Het
Spata31e4	A	G	13: 50,856,071 (GRCm39)	T570A	possibly damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stard9	A	C	2: 120,526,253 (GRCm39)	M837L	probably benign	Het
Stx5a	A	T	19: 8,732,612 (GRCm39)		probably benign	Het
Tmc7	A	G	7: 118,137,385 (GRCm39)	V719A	probably benign	Het
Trank1	T	A	9: 111,193,902 (GRCm39)	I642K	possibly damaging	Het
Trim34a	T	C	7: 103,910,244 (GRCm39)	Y349H	probably damaging	Het
Uba7	A	G	9: 107,858,671 (GRCm39)	Y834C	possibly damaging	Het
Ube2d1	A	G	10: 71,092,530 (GRCm39)	S105P	possibly damaging	Het
Vps13a	A	G	19: 16,722,283 (GRCm39)	V343A	possibly damaging	Het
Zbtb37	G	A	1: 160,859,643 (GRCm39)	Q221*	probably null	Het
Zfp119b	T	C	17: 56,246,148 (GRCm39)	N346S	probably benign	Het
Zfp708	G	T	13: 67,218,785 (GRCm39)	T358K	possibly damaging	Het

Other mutations in Or51aa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:Or51aa2	APN	7	103,187,781 (GRCm39)	missense	probably damaging	1.00
IGL01901:Or51aa2	APN	7	103,188,177 (GRCm39)	missense	probably damaging	0.98
R1200:Or51aa2	UTSW	7	103,188,274 (GRCm39)	missense	probably benign	0.01
R1591:Or51aa2	UTSW	7	103,188,274 (GRCm39)	missense	probably benign	0.00
R1858:Or51aa2	UTSW	7	103,187,859 (GRCm39)	missense	probably damaging	1.00
R1975:Or51aa2	UTSW	7	103,188,201 (GRCm39)	missense	probably damaging	1.00
R1994:Or51aa2	UTSW	7	103,187,566 (GRCm39)	missense	possibly damaging	0.57
R3690:Or51aa2	UTSW	7	103,188,274 (GRCm39)	missense	probably benign	0.01
R4635:Or51aa2	UTSW	7	103,188,355 (GRCm39)	missense	probably benign	0.00
R4670:Or51aa2	UTSW	7	103,188,393 (GRCm39)	missense	possibly damaging	0.89
R5267:Or51aa2	UTSW	7	103,188,031 (GRCm39)	missense	probably benign	0.19
R5417:Or51aa2	UTSW	7	103,187,970 (GRCm39)	missense	possibly damaging	0.94
R7253:Or51aa2	UTSW	7	103,187,995 (GRCm39)	missense	probably benign	0.01
R7278:Or51aa2	UTSW	7	103,187,935 (GRCm39)	missense	probably benign	0.02
R7525:Or51aa2	UTSW	7	103,188,338 (GRCm39)	nonsense	probably null
R7553:Or51aa2	UTSW	7	103,188,363 (GRCm39)	missense	probably damaging	0.99
R7661:Or51aa2	UTSW	7	103,187,826 (GRCm39)	missense	probably damaging	0.99
R8379:Or51aa2	UTSW	7	103,188,183 (GRCm39)	missense	possibly damaging	0.91
R8493:Or51aa2	UTSW	7	103,187,479 (GRCm39)	missense	probably benign	0.01
R8774:Or51aa2	UTSW	7	103,187,965 (GRCm39)	missense	probably benign	0.00
R8774-TAIL:Or51aa2	UTSW	7	103,187,965 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGAGAAATGGCCACATACCG -3'
(R):5'- GCCCTGACAACATGCTTCATG -3'

Sequencing Primer
(F):5'- TACCGATCGAAGGCCATTG -3'
(R):5'- CATGCTTCATGTCAACATCACC -3'

Posted On

2018-06-22