Mutagenetix > Incidental Mutation

Incidental Mutation 'R7294:Or52b3'

566621

Institutional Source

Beutler Lab

Gene Symbol

Or52b3

Ensembl Gene

ENSMUSG00000073977

Gene Name

olfactory receptor family 52 subfamily B member 3

Synonyms

MOR31-3, Olfr549, GA_x6K02T2PBJ9-5274337-5275287

MMRRC Submission

045399-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102203493-102204443 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102204160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 223 (I223N)

Ref Sequence

ENSEMBL: ENSMUSP00000150373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033264] [ENSMUST00000098227] [ENSMUST00000106913] [ENSMUST00000217478]

AlphaFold

E9Q542

Predicted Effect

probably benign
Transcript: ENSMUST00000033264

SMART Domains

Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966

Domain	Start	End	E-Value	Type
RING	12	50	6e-8	SMART
BBOX	83	124	2.71e-15	SMART
coiled coil region	184	242	N/A	INTRINSIC
PRY	282	334	1.08e-23	SMART
SPRY	335	461	8.9e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098227
AA Change: I223N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095829
Gene: ENSMUSG00000073977
AA Change: I223N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.7e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	225	1.2e-11	PFAM
Pfam:7tm_1	43	294	1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106913

SMART Domains

Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966

Domain	Start	End	E-Value	Type
RING	12	50	6e-8	SMART
BBOX	83	124	2.71e-15	SMART
coiled coil region	184	242	N/A	INTRINSIC
PRY	282	334	1.08e-23	SMART
SPRY	335	461	8.9e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000217478
AA Change: I223N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (49/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,650,541 (GRCm39)	Y1216*	probably null	Het
Abca17	G	A	17: 24,539,983 (GRCm39)	T415M	not run	Het
Adam1a	G	T	5: 121,658,068 (GRCm39)	C408*	probably null	Het
Adamts9	G	A	6: 92,871,270 (GRCm39)	T603M	probably damaging	Het
Amdhd1	T	C	10: 93,370,301 (GRCm39)	E179G	probably benign	Het
Bcan	T	C	3: 87,902,831 (GRCm39)	T316A	possibly damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C5ar1	T	C	7: 15,982,950 (GRCm39)	I23M	probably benign	Het
Cd109	A	T	9: 78,619,917 (GRCm39)	E1386D	probably damaging	Het
Cdcp1	C	T	9: 123,006,986 (GRCm39)	C587Y	probably benign	Het
Cdh22	A	C	2: 164,984,013 (GRCm39)	V413G	possibly damaging	Het
Cfap44	A	G	16: 44,225,256 (GRCm39)		probably benign	Het
Col2a1	A	G	15: 97,885,168 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,756,005 (GRCm39)	Y95N	probably damaging	Het
Dusp13b	A	G	14: 21,783,782 (GRCm39)	S178P	possibly damaging	Het
Fhod3	A	G	18: 25,266,037 (GRCm39)	E1575G	probably damaging	Het
Gfpt2	C	T	11: 49,709,435 (GRCm39)	R209*	probably null	Het
Heg1	T	C	16: 33,546,859 (GRCm39)	S573P	probably damaging	Het
Hinfp	A	G	9: 44,210,567 (GRCm39)	C152R	probably damaging	Het
Hmgcs2	C	T	3: 98,198,211 (GRCm39)	T38I	probably benign	Het
Jakmip1	T	C	5: 37,274,804 (GRCm39)	F441L	possibly damaging	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kpna4	A	C	3: 68,999,956 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,022,848 (GRCm39)	I456F	possibly damaging	Het
Leprotl1	A	T	8: 34,606,006 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,835 (GRCm39)	T42S	possibly damaging	Het
Naa80	T	G	9: 107,460,182 (GRCm39)	F26V	possibly damaging	Het
Nr1h5	T	C	3: 102,852,578 (GRCm39)	T419A	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or4c12	A	C	2: 89,774,068 (GRCm39)	Y130*	probably null	Het
Pax6	T	A	2: 105,515,246 (GRCm39)	C66*	probably null	Het
Pde10a	A	T	17: 8,975,853 (GRCm39)	N53Y	probably benign	Het
Pdgfra	A	G	5: 75,342,312 (GRCm39)	N711S	probably benign	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Slc26a1	G	T	5: 108,821,698 (GRCm39)	R80S	possibly damaging	Het
Slc2a4	T	C	11: 69,836,225 (GRCm39)	D262G	probably benign	Het
Specc1	T	A	11: 62,009,163 (GRCm39)	S226R	probably benign	Het
Srsf4	A	G	4: 131,627,772 (GRCm39)	S289G	unknown	Het
Stil	T	C	4: 114,864,480 (GRCm39)	V127A	probably benign	Het
Syne1	A	T	10: 5,047,483 (GRCm39)		probably null	Het
Tbc1d22a	T	A	15: 86,196,036 (GRCm39)	Y336N	possibly damaging	Het
Tbc1d8	C	T	1: 39,445,843 (GRCm39)	G116E	probably damaging	Het
Thrb	A	G	14: 17,826,963 (GRCm38)		probably benign	Het
Timd5	T	A	11: 46,426,439 (GRCm39)	I182K	probably benign	Het
Tln1	G	T	4: 43,534,399 (GRCm39)	H2253Q	probably benign	Het
Tmem131	A	C	1: 36,893,928 (GRCm39)	N158K	possibly damaging	Het
Toporsl	A	C	4: 52,611,903 (GRCm39)	T599P	probably benign	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Triobp	C	T	15: 78,858,176 (GRCm39)	A1259V	probably damaging	Het
Zfp40	A	G	17: 23,395,411 (GRCm39)	I392T	possibly damaging	Het

Other mutations in Or52b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Or52b3	APN	7	102,204,098 (GRCm39)	missense	probably damaging	1.00
IGL02048:Or52b3	APN	7	102,204,090 (GRCm39)	missense	probably damaging	1.00
IGL02314:Or52b3	APN	7	102,204,318 (GRCm39)	missense	probably damaging	1.00
IGL03154:Or52b3	APN	7	102,203,913 (GRCm39)	missense	probably benign
R0783:Or52b3	UTSW	7	102,203,646 (GRCm39)	missense	probably benign	0.01
R2009:Or52b3	UTSW	7	102,204,151 (GRCm39)	missense	probably damaging	1.00
R2145:Or52b3	UTSW	7	102,204,267 (GRCm39)	splice site	probably null
R3547:Or52b3	UTSW	7	102,203,677 (GRCm39)	missense	probably damaging	1.00
R6843:Or52b3	UTSW	7	102,203,928 (GRCm39)	missense	probably benign
R7533:Or52b3	UTSW	7	102,203,718 (GRCm39)	missense	probably damaging	1.00
R9354:Or52b3	UTSW	7	102,204,397 (GRCm39)	missense	possibly damaging	0.82
R9485:Or52b3	UTSW	7	102,204,013 (GRCm39)	missense	probably damaging	0.98
X0018:Or52b3	UTSW	7	102,203,935 (GRCm39)	missense	probably benign	0.00
Z1177:Or52b3	UTSW	7	102,204,178 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGAAACGCCTGCCTTTCTG -3'
(R):5'- CGAATCTGTCTGGTTTTGATCC -3'

Sequencing Primer
(F):5'- GCCTGCCTTTCTGCCGTAG -3'
(R):5'- AGCATGCAGACATTGGCC -3'

Posted On

2019-06-26