Mutagenetix > Incidental Mutation

Incidental Mutation 'R0684:Or52n2b'

61072

Institutional Source

Beutler Lab

Gene Symbol

Or52n2b

Ensembl Gene

ENSMUSG00000056782

Gene Name

olfactory receptor family 52 subfamily N member 2B

Synonyms

MOR34-2, GA_x6K02T2PBJ9-7546146-7545166, Olfr667, MOR34-11

MMRRC Submission

038869-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R0684 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104565521-104566501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104565841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 221 (T221S)

Ref Sequence

ENSEMBL: ENSMUSP00000150340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071362] [ENSMUST00000217177]

AlphaFold

Q7TRP4

Predicted Effect

probably benign
Transcript: ENSMUST00000071362
AA Change: T221S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100470
Gene: ENSMUSG00000056782
AA Change: T221S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	4.9e-102	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1.2e-8	PFAM
Pfam:7tm_1	43	295	1.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211111

Predicted Effect

probably benign
Transcript: ENSMUST00000217177
AA Change: T221S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.3150

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,428 (GRCm39)	L731H	probably damaging	Het
Adora2b	C	T	11: 62,139,995 (GRCm39)	A23V	probably benign	Het
Ankrd17	T	C	5: 90,411,857 (GRCm39)	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,239,442 (GRCm39)	R410H	probably damaging	Het
Atp8a2	T	C	14: 60,260,593 (GRCm39)	E419G	probably benign	Het
Atxn1l	A	T	8: 110,459,016 (GRCm39)	N415K	probably damaging	Het
Bcl2l12	T	A	7: 44,646,025 (GRCm39)	T65S	probably benign	Het
Bdh2	A	G	3: 134,996,774 (GRCm39)	I90V	probably benign	Het
Bsph1	T	A	7: 13,206,988 (GRCm39)	N121K	probably damaging	Het
Cd96	T	C	16: 45,938,153 (GRCm39)	Y104C	possibly damaging	Het
Chdh	T	C	14: 29,753,570 (GRCm39)	W160R	probably damaging	Het
Clock	A	G	5: 76,393,365 (GRCm39)	F193L	probably damaging	Het
Copz1	A	G	15: 103,204,958 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,379,500 (GRCm39)	T450A	probably damaging	Het
Cyp2d34	A	T	15: 82,501,751 (GRCm39)	I253K	probably benign	Het
Dhrs13	G	T	11: 77,927,789 (GRCm39)	A212S	probably damaging	Het
Ecsit	T	C	9: 21,987,796 (GRCm39)	N81S	probably benign	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Emid1	T	C	11: 5,093,866 (GRCm39)	R92G	probably damaging	Het
Ermp1	A	G	19: 29,609,941 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,432,893 (GRCm39)		probably null	Het
Hsd17b3	T	C	13: 64,236,882 (GRCm39)	M21V	probably benign	Het
Kat6b	T	C	14: 21,718,849 (GRCm39)	V1176A	probably benign	Het
Midn	A	G	10: 79,992,336 (GRCm39)	K463E	probably damaging	Het
Mier1	A	G	4: 102,996,631 (GRCm39)	E103G	probably damaging	Het
Muc15	A	G	2: 110,564,160 (GRCm39)	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,294,875 (GRCm39)	E15V	probably damaging	Het
Or10a5	A	T	7: 106,635,889 (GRCm39)	N176Y	probably damaging	Het
Or2n1d	A	G	17: 38,646,735 (GRCm39)	K229R	probably benign	Het
Pate14	C	T	9: 36,549,176 (GRCm39)	G28E	probably benign	Het
Pigf	A	T	17: 87,327,923 (GRCm39)	F115I	probably benign	Het
Prpsap1	A	T	11: 116,362,317 (GRCm39)	V355E	probably damaging	Het
Ptprk	G	T	10: 28,359,294 (GRCm39)		probably benign	Het
Rae1	G	A	2: 172,846,957 (GRCm39)	R67H	probably damaging	Het
Sema3a	G	A	5: 13,606,494 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,126,758 (GRCm39)	T104A	probably benign	Het
Slc38a2	A	T	15: 96,593,168 (GRCm39)	L137*	probably null	Het
Smgc	A	G	15: 91,725,670 (GRCm39)		probably benign	Het
Syce3	A	G	15: 89,274,648 (GRCm39)		probably benign	Het
Syt9	T	A	7: 107,024,343 (GRCm39)	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,592,974 (GRCm39)	S169A	probably benign	Het
Thnsl1	A	G	2: 21,216,477 (GRCm39)	D77G	probably benign	Het
Tsr1	T	A	11: 74,798,767 (GRCm39)	V712E	probably damaging	Het
Wdr12	C	T	1: 60,128,525 (GRCm39)		probably benign	Het
Xdh	T	A	17: 74,250,886 (GRCm39)	N22I	probably damaging	Het
Zfp3	T	A	11: 70,662,395 (GRCm39)	L118Q	probably benign	Het
Zfp592	A	G	7: 80,687,623 (GRCm39)	N883D	probably benign	Het
Zfp609	T	A	9: 65,638,483 (GRCm39)	M250L	probably benign	Het
Zfp94	A	T	7: 24,002,495 (GRCm39)	S316T	probably damaging	Het
Zfp955b	A	G	17: 33,521,947 (GRCm39)	N472S	probably benign	Het

Other mutations in Or52n2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02707:Or52n2b	APN	7	104,565,859 (GRCm39)	missense	probably damaging	1.00
R0457:Or52n2b	UTSW	7	104,566,180 (GRCm39)	missense	probably benign	0.19
R1343:Or52n2b	UTSW	7	104,565,834 (GRCm39)	missense	probably damaging	1.00
R1401:Or52n2b	UTSW	7	104,565,963 (GRCm39)	missense	probably damaging	1.00
R1415:Or52n2b	UTSW	7	104,565,543 (GRCm39)	missense	probably benign	0.03
R1644:Or52n2b	UTSW	7	104,566,015 (GRCm39)	missense	probably benign	0.02
R1907:Or52n2b	UTSW	7	104,566,272 (GRCm39)	missense	probably damaging	0.99
R2063:Or52n2b	UTSW	7	104,565,982 (GRCm39)	missense	probably benign	0.02
R3774:Or52n2b	UTSW	7	104,566,113 (GRCm39)	missense	probably benign	0.01
R4751:Or52n2b	UTSW	7	104,565,617 (GRCm39)	nonsense	probably null
R4958:Or52n2b	UTSW	7	104,565,668 (GRCm39)	missense	probably damaging	0.97
R4960:Or52n2b	UTSW	7	104,565,915 (GRCm39)	missense	probably benign	0.02
R5362:Or52n2b	UTSW	7	104,565,834 (GRCm39)	missense	probably damaging	1.00
R5988:Or52n2b	UTSW	7	104,566,125 (GRCm39)	missense	probably damaging	0.98
R7396:Or52n2b	UTSW	7	104,565,558 (GRCm39)	missense	probably benign
R8169:Or52n2b	UTSW	7	104,565,619 (GRCm39)	missense	possibly damaging	0.60
R8517:Or52n2b	UTSW	7	104,565,681 (GRCm39)	missense	possibly damaging	0.80
R8722:Or52n2b	UTSW	7	104,565,708 (GRCm39)	missense	probably benign	0.03
R9461:Or52n2b	UTSW	7	104,565,583 (GRCm39)	missense	probably benign	0.06
Z1088:Or52n2b	UTSW	7	104,565,873 (GRCm39)	missense	probably benign	0.06
Z1177:Or52n2b	UTSW	7	104,566,326 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GGACACAACTAGATGAGCTGACACC -3'
(R):5'- ATCCTGACCAACCCTGTGATTGCC -3'

Sequencing Primer
(F):5'- CAGATAGAGGTTTGCCACTATGATG -3'
(R):5'- GATTGCCAAAGCTAGTCTTGC -3'

Posted On

2013-07-30