Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Or51a39'

22975

Institutional Source

Beutler Lab

Gene Symbol

Or51a39

Ensembl Gene

ENSMUSG00000066273

Gene Name

olfactory receptor family 51 subfamily A member 39

Synonyms

MTPCR33, MOR11-2, GA_x6K02T2PBJ9-5431102-5430146, Olfr33

MMRRC Submission

038438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R0158 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

102362662-102363618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102363162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 153 (A153T)

Ref Sequence

ENSEMBL: ENSMUSP00000149588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]

AlphaFold

Q8VGX7

Predicted Effect

probably benign
Transcript: ENSMUST00000084817
AA Change: A153T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273
AA Change: A153T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	317	2.1e-117	PFAM
Pfam:7TM_GPCR_Srsx	41	211	7.5e-11	PFAM
Pfam:7tm_1	47	299	2.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094124

SMART Domains

Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	6.2e-117	PFAM
Pfam:7TM_GPCR_Srsx	37	308	2.4e-7	PFAM
Pfam:7tm_1	43	293	2.4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210002

Predicted Effect

probably benign
Transcript: ENSMUST00000216312
AA Change: A153T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,316 (GRCm39)	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840 (GRCm39)	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,033,861 (GRCm39)	P891L	probably damaging	Het
Ampd1	T	A	3: 102,999,046 (GRCm39)	Y400*	probably null	Het
Ap1g1	T	C	8: 110,582,267 (GRCm39)	S724P	probably benign	Het
Bst2	T	A	8: 71,989,861 (GRCm39)	T71S	possibly damaging	Het
C3	A	G	17: 57,531,851 (GRCm39)		probably null	Het
Cacna2d1	C	A	5: 16,566,815 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,213,709 (GRCm39)	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,341,336 (GRCm39)	V383G	probably benign	Het
Cd109	A	T	9: 78,596,214 (GRCm39)	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,195,004 (GRCm39)	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,946,057 (GRCm39)	E161G	probably benign	Het
Cggbp1	C	T	16: 64,676,201 (GRCm39)	S89L	possibly damaging	Het
Crocc	A	T	4: 140,769,553 (GRCm39)		probably benign	Het
Cspg4b	T	A	13: 113,505,687 (GRCm39)	L2272*	probably null	Het
Eef1akmt3	G	A	10: 126,869,142 (GRCm39)	Q111*	probably null	Het
Exoc7	T	C	11: 116,186,118 (GRCm39)	N361S	probably benign	Het
Fat2	G	T	11: 55,187,011 (GRCm39)	S1278R	probably benign	Het
Fbxo42	A	G	4: 140,927,640 (GRCm39)	N640S	probably benign	Het
Fbxw25	A	G	9: 109,483,720 (GRCm39)	V164A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,917 (GRCm39)	I1848V	probably damaging	Het
Foxs1	T	C	2: 152,774,330 (GRCm39)	E241G	probably damaging	Het
Fras1	A	T	5: 96,924,493 (GRCm39)	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,639,206 (GRCm39)	V432E	probably benign	Het
H3c2	T	A	13: 23,936,693 (GRCm39)	C111S	probably damaging	Het
Herc1	T	A	9: 66,403,203 (GRCm39)	L4374*	probably null	Het
Ift122	T	C	6: 115,901,445 (GRCm39)		probably benign	Het
Itgav	C	A	2: 83,622,381 (GRCm39)	N654K	probably benign	Het
Itih5	T	C	2: 10,239,803 (GRCm39)		probably benign	Het
Jak2	C	A	19: 29,289,157 (GRCm39)	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,365,920 (GRCm39)	C96F	probably benign	Het
Med13l	C	A	5: 118,880,514 (GRCm39)	S1202Y	unknown	Het
Mefv	T	C	16: 3,533,320 (GRCm39)	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,222,608 (GRCm39)	T1226A	probably benign	Het
Nktr	C	T	9: 121,579,757 (GRCm39)		probably benign	Het
Nudt5	G	A	2: 5,867,114 (GRCm39)	V61M	probably damaging	Het
Pakap	A	G	4: 57,709,649 (GRCm39)	D198G	possibly damaging	Het
Pcdhb2	A	C	18: 37,430,283 (GRCm39)	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pnp2	G	A	14: 51,201,761 (GRCm39)	R249H	probably damaging	Het
Rgs3	A	T	4: 62,542,121 (GRCm39)	I32F	probably damaging	Het
Rnf139	A	G	15: 58,770,727 (GRCm39)	T251A	probably benign	Het
Rnf41	A	G	10: 128,274,104 (GRCm39)	E252G	probably damaging	Het
Rxfp2	T	A	5: 149,975,093 (GRCm39)	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042 (GRCm39)	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,183,267 (GRCm39)	D43G	probably damaging	Het
Sftpc	T	C	14: 70,758,887 (GRCm39)	K154R	probably null	Het
Simc1	A	G	13: 54,672,530 (GRCm39)	T293A	probably benign	Het
Skint6	A	T	4: 113,042,011 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,225,208 (GRCm39)		probably benign	Het
Spata31e2	T	G	1: 26,723,032 (GRCm39)	H716P	probably damaging	Het
Ston2	A	T	12: 91,707,376 (GRCm39)	I78N	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tent4b	G	A	8: 88,977,371 (GRCm39)	G391D	probably damaging	Het
Tiam1	C	T	16: 89,589,889 (GRCm39)		probably benign	Het
Tnfsf15	T	C	4: 63,648,229 (GRCm39)	H137R	possibly damaging	Het
Tpte	G	A	8: 22,817,755 (GRCm39)	R247H	possibly damaging	Het
Trim2	T	C	3: 84,117,476 (GRCm39)		probably benign	Het
Ulk1	A	T	5: 110,936,810 (GRCm39)		probably benign	Het
Utp4	T	G	8: 107,640,018 (GRCm39)	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,403,798 (GRCm39)	I65F	probably damaging	Het
Vps54	A	T	11: 21,256,962 (GRCm39)	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,831,145 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,568,993 (GRCm39)	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,120,212 (GRCm39)	Q218*	probably null	Het
Zfp820	G	A	17: 22,038,800 (GRCm39)	T176I	probably benign	Het

Other mutations in Or51a39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02064:Or51a39	APN	7	102,362,808 (GRCm39)	missense	probably damaging	1.00
IGL02349:Or51a39	APN	7	102,363,333 (GRCm39)	missense	probably damaging	0.99
IGL02739:Or51a39	APN	7	102,363,521 (GRCm39)	missense	possibly damaging	0.58
IGL03110:Or51a39	APN	7	102,363,090 (GRCm39)	missense	probably damaging	1.00
IGL03014:Or51a39	UTSW	7	102,362,753 (GRCm39)	missense	probably null	0.91
R1455:Or51a39	UTSW	7	102,363,205 (GRCm39)	nonsense	probably null
R1996:Or51a39	UTSW	7	102,362,999 (GRCm39)	missense	probably damaging	1.00
R2032:Or51a39	UTSW	7	102,363,083 (GRCm39)	missense	probably benign	0.00
R2152:Or51a39	UTSW	7	102,362,788 (GRCm39)	missense	probably benign	0.01
R4852:Or51a39	UTSW	7	102,362,750 (GRCm39)	missense	probably damaging	0.99
R4965:Or51a39	UTSW	7	102,362,702 (GRCm39)	missense	probably damaging	1.00
R5264:Or51a39	UTSW	7	102,363,558 (GRCm39)	missense	probably benign	0.00
R5464:Or51a39	UTSW	7	102,362,889 (GRCm39)	missense	probably benign
R6680:Or51a39	UTSW	7	102,363,522 (GRCm39)	missense	possibly damaging	0.70
R7195:Or51a39	UTSW	7	102,362,873 (GRCm39)	missense	possibly damaging	0.74
R7373:Or51a39	UTSW	7	102,363,306 (GRCm39)	missense	possibly damaging	0.53
R7391:Or51a39	UTSW	7	102,363,189 (GRCm39)	missense	probably benign	0.02
R7872:Or51a39	UTSW	7	102,363,389 (GRCm39)	missense	probably benign	0.01
R7948:Or51a39	UTSW	7	102,362,895 (GRCm39)	missense	probably benign	0.00
R8097:Or51a39	UTSW	7	102,363,197 (GRCm39)	missense	possibly damaging	0.53
R8969:Or51a39	UTSW	7	102,363,558 (GRCm39)	missense	probably benign	0.00
R9349:Or51a39	UTSW	7	102,362,875 (GRCm39)	nonsense	probably null
R9589:Or51a39	UTSW	7	102,363,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGGTGCTTTCCAAAACGATG -3'
(R):5'- AGCCCTAAGTGATGTGGGTCTCAG -3'

Sequencing Primer
(F):5'- GCAAGGAGTCTATACCCACTGTG -3'
(R):5'- GGTTTGACTATCGTTTCATCGAC -3'

Posted On

2013-04-16