Mutagenetix > Incidental Mutation

Incidental Mutation 'R7430:Or51g2'

576395

Institutional Source

Beutler Lab

Gene Symbol

Or51g2

Ensembl Gene

ENSMUSG00000043354

Gene Name

olfactory receptor family 51 subfamily G member 2

Synonyms

Olfr577, GA_x6K02T2PBJ9-5685322-5684384, MOR7-2

MMRRC Submission

045508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102622259-102623197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102622969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 77 (S77T)

Ref Sequence

ENSEMBL: ENSMUSP00000148993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051505] [ENSMUST00000185326] [ENSMUST00000214080] [ENSMUST00000215237]

AlphaFold

Q8VH11

Predicted Effect

probably damaging
Transcript: ENSMUST00000051505
AA Change: S77T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059586
Gene: ENSMUSG00000043354
AA Change: S77T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	312	3.3e-140	PFAM
Pfam:7TM_GPCR_Srsx	38	310	1.2e-6	PFAM
Pfam:7tm_1	44	295	7.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185326

SMART Domains

Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	300	9.7e-12	PFAM
Pfam:7tm_1	41	291	1.8e-29	PFAM
Pfam:7tm_4	140	284	2.6e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214080
AA Change: S77T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215237
AA Change: S77T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.4107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	C	17: 24,583,932 (GRCm39)		probably null	Het
Ankrd17	C	G	5: 90,443,516 (GRCm39)	E384Q	possibly damaging	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
C2cd4d	G	A	3: 94,271,657 (GRCm39)	V308M	possibly damaging	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Card6	G	T	15: 5,128,682 (GRCm39)	Q905K	probably benign	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cimap3	T	C	3: 105,921,834 (GRCm39)	R30G	probably benign	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dnah8	T	C	17: 30,925,363 (GRCm39)	F1266S	probably damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fat4	T	A	3: 38,941,599 (GRCm39)	I164N	probably damaging	Het
Fat4	A	G	3: 39,063,793 (GRCm39)	D4583G	probably damaging	Het
Fgb	C	T	3: 82,954,014 (GRCm39)	V75I	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Gclm	G	A	3: 122,039,729 (GRCm39)	R32Q	probably benign	Het
Grsf1	A	T	5: 88,811,086 (GRCm39)	I428N	possibly damaging	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hscb	T	A	5: 110,977,024 (GRCm39)	I223L	probably benign	Het
Ifi204	C	T	1: 173,583,247 (GRCm39)	A324T	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Loricrin	C	T	3: 91,989,206 (GRCm39)	G27S	unknown	Het
Lpin3	A	G	2: 160,740,586 (GRCm39)	D377G	probably benign	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myh1	C	T	11: 67,096,393 (GRCm39)	Q291*	probably null	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Nkx6-2	T	C	7: 139,161,916 (GRCm39)	T154A	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Ovgp1	G	C	3: 105,893,618 (GRCm39)	A464P	probably damaging	Het
Ovgp1	C	T	3: 105,893,619 (GRCm39)	A464V	possibly damaging	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Per2	C	A	1: 91,351,705 (GRCm39)	E934*	probably null	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Postn	T	A	3: 54,277,623 (GRCm39)	V206D	probably damaging	Het
Prss29	T	A	17: 25,540,113 (GRCm39)		probably null	Het
Ptges3l	C	A	11: 101,314,641 (GRCm39)	V85L	possibly damaging	Het
Riok2	T	C	17: 17,607,802 (GRCm39)	L450S	probably benign	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Slco1a5	A	T	6: 142,194,438 (GRCm39)	S402T	probably benign	Het
Smad2	T	A	18: 76,421,151 (GRCm39)	V160E	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Tmem120a	T	A	5: 135,764,990 (GRCm39)		probably null	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Trim33	T	C	3: 103,218,219 (GRCm39)	I256T	possibly damaging	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
Tufm	A	G	7: 126,088,299 (GRCm39)	D228G	probably benign	Het
Usf1	T	A	1: 171,245,295 (GRCm39)	S236T	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Usp46	T	A	5: 74,163,849 (GRCm39)	Y296F	probably damaging	Het
Vmn2r82	A	G	10: 79,217,087 (GRCm39)	N473S	probably damaging	Het
Washc5	A	T	15: 59,241,762 (GRCm39)	Y51*	probably null	Het
Zbtb47	G	A	9: 121,592,732 (GRCm39)	D351N	probably benign	Het
Zfp763	T	A	17: 33,238,506 (GRCm39)	Y213F	possibly damaging	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	Het

Other mutations in Or51g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02246:Or51g2	APN	7	102,622,951 (GRCm39)	missense	possibly damaging	0.62
IGL03111:Or51g2	APN	7	102,622,738 (GRCm39)	missense	probably damaging	1.00
R1529:Or51g2	UTSW	7	102,623,086 (GRCm39)	missense	probably damaging	1.00
R1753:Or51g2	UTSW	7	102,622,263 (GRCm39)	missense	probably benign
R3005:Or51g2	UTSW	7	102,622,465 (GRCm39)	missense	possibly damaging	0.56
R4457:Or51g2	UTSW	7	102,622,734 (GRCm39)	missense	probably damaging	1.00
R4675:Or51g2	UTSW	7	102,623,013 (GRCm39)	missense	probably damaging	0.99
R4808:Or51g2	UTSW	7	102,623,118 (GRCm39)	missense	probably damaging	0.99
R4891:Or51g2	UTSW	7	102,622,759 (GRCm39)	missense	probably benign	0.12
R4917:Or51g2	UTSW	7	102,622,614 (GRCm39)	missense	possibly damaging	0.93
R4918:Or51g2	UTSW	7	102,622,614 (GRCm39)	missense	possibly damaging	0.93
R5328:Or51g2	UTSW	7	102,623,175 (GRCm39)	missense	possibly damaging	0.46
R6375:Or51g2	UTSW	7	102,622,960 (GRCm39)	missense	probably damaging	1.00
R6683:Or51g2	UTSW	7	102,622,920 (GRCm39)	missense	probably benign	0.05
R6958:Or51g2	UTSW	7	102,623,091 (GRCm39)	missense	possibly damaging	0.67
R7022:Or51g2	UTSW	7	102,623,175 (GRCm39)	missense	possibly damaging	0.46
R7429:Or51g2	UTSW	7	102,622,969 (GRCm39)	missense	probably damaging	1.00
R7490:Or51g2	UTSW	7	102,623,017 (GRCm39)	missense	probably damaging	1.00
R7808:Or51g2	UTSW	7	102,622,317 (GRCm39)	missense	possibly damaging	0.56
R8169:Or51g2	UTSW	7	102,622,545 (GRCm39)	missense	probably damaging	0.99
R8544:Or51g2	UTSW	7	102,622,938 (GRCm39)	missense	probably damaging	1.00
R9027:Or51g2	UTSW	7	102,622,560 (GRCm39)	missense	probably damaging	1.00
R9265:Or51g2	UTSW	7	102,623,112 (GRCm39)	nonsense	probably null
X0027:Or51g2	UTSW	7	102,622,893 (GRCm39)	missense	probably benign	0.05
Z1176:Or51g2	UTSW	7	102,622,516 (GRCm39)	missense	not run
Z1177:Or51g2	UTSW	7	102,622,516 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- CTATTCTGACAATCACTGTGTGGG -3'
(R):5'- TTCTTGCTGAGTGGCATCCC -3'

Sequencing Primer
(F):5'- ACAATCACTGTGTGGGTGAGG -3'
(R):5'- ATCCCTGGGCTGGAGCAC -3'

Posted On

2019-10-07