Mutagenetix > Incidental Mutation

Incidental Mutation 'R9185:Or2n1b'

697345

Institutional Source

Beutler Lab

Gene Symbol

Or2n1b

Ensembl Gene

ENSMUSG00000063240

Gene Name

olfactory receptor family 2 subfamily N member 1B

Synonyms

GA_x6K02T2PSCP-2597192-2598130, MOR256-6, Olfr133

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R9185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38459481-38460419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38459754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 92 (I92F)

Ref Sequence

ENSEMBL: ENSMUSP00000133824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113636] [ENSMUST00000173610] [ENSMUST00000215078] [ENSMUST00000215549]

AlphaFold

Q8VG94

Predicted Effect

probably damaging
Transcript: ENSMUST00000113636
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: I92F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	27	305	3.4e-7	PFAM
Pfam:7tm_4	31	308	6.1e-52	PFAM
Pfam:7tm_1	41	290	1.5e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173610
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133824
Gene: ENSMUSG00000063240
AA Change: I92F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	109	3.3e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215078
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215549
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,177,421 (GRCm39)	H312R	possibly damaging	Het
Aloxe3	T	C	11: 69,025,114 (GRCm39)	F409S	probably damaging	Het
Arfgef1	T	A	1: 10,215,004 (GRCm39)	N1630I	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cbl	A	G	9: 44,064,137 (GRCm39)	S800P	probably damaging	Het
Ccne1	A	T	7: 37,799,255 (GRCm39)	S220T	probably benign	Het
Cd177	T	C	7: 24,443,668 (GRCm39)	Y810C	probably benign	Het
Cercam	T	C	2: 29,766,033 (GRCm39)	V304A	possibly damaging	Het
Cfap100	T	C	6: 90,390,416 (GRCm39)	T75A		Het
Clcn4	T	A	7: 7,287,197 (GRCm39)	I744F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,246,887 (GRCm39)	N1670S	unknown	Het
Cps1	G	A	1: 67,248,831 (GRCm39)	R1186Q	probably benign	Het
Cr1l	C	A	1: 194,797,053 (GRCm39)	C328F	probably damaging	Het
Crybg1	T	A	10: 43,880,091 (GRCm39)	T366S	probably benign	Het
Ctbp2	A	T	7: 132,615,712 (GRCm39)	S408T	probably damaging	Het
Dync1h1	T	C	12: 110,601,937 (GRCm39)	S1992P	probably benign	Het
Glyatl3	A	T	17: 41,225,234 (GRCm39)	V3E	probably damaging	Het
Gse1	T	C	8: 121,294,908 (GRCm39)	M343T	possibly damaging	Het
Gys2	T	C	6: 142,405,112 (GRCm39)	D225G	probably damaging	Het
Hecw1	T	C	13: 14,491,628 (GRCm39)	S42G	probably damaging	Het
Helz2	A	G	2: 180,871,883 (GRCm39)	C2673R	probably benign	Het
Hivep1	G	A	13: 42,337,975 (GRCm39)	V2685I	possibly damaging	Het
Icam5	A	G	9: 20,950,165 (GRCm39)	E908G	probably damaging	Het
Kcne1	A	T	16: 92,145,796 (GRCm39)	L16Q	possibly damaging	Het
Kcnk5	G	T	14: 20,195,135 (GRCm39)	Y118*	probably null	Het
Kctd11	T	C	11: 69,770,676 (GRCm39)	T121A	possibly damaging	Het
Mier3	T	C	13: 111,851,260 (GRCm39)	V414A	probably benign	Het
Mindy4	T	C	6: 55,295,261 (GRCm39)	S734P	possibly damaging	Het
Mrps26	T	C	2: 130,405,769 (GRCm39)	V24A	probably benign	Het
Mug2	C	G	6: 122,054,442 (GRCm39)	Q1074E	probably benign	Het
Myo15b	T	C	11: 115,771,255 (GRCm39)	S1P	unknown	Het
Ninj1	A	T	13: 49,344,726 (GRCm39)	T81S	probably benign	Het
Nod2	A	T	8: 89,391,880 (GRCm39)	H729L	probably damaging	Het
Nr1i3	G	A	1: 171,043,955 (GRCm39)	V49I	possibly damaging	Het
Olfm5	G	A	7: 103,810,095 (GRCm39)	Q89*	probably null	Het
Or10ag52	A	T	2: 87,044,174 (GRCm39)	T313S	probably benign	Het
Or2y12	T	C	11: 49,426,501 (GRCm39)	V163A	probably benign	Het
Or4e1	A	G	14: 52,700,984 (GRCm39)	S161P	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or5aq6	A	C	2: 86,923,200 (GRCm39)	D180E	possibly damaging	Het
Or5b124	A	T	19: 13,610,765 (GRCm39)	T97S	probably benign	Het
Or8g53	T	A	9: 39,683,404 (GRCm39)	T231S	probably benign	Het
Pde4dip	T	A	3: 97,666,132 (GRCm39)	T371S	probably benign	Het
Pkhd1l1	T	A	15: 44,453,019 (GRCm39)	S3981R	probably benign	Het
Plxnd1	G	T	6: 115,934,526 (GRCm39)	F1802L	probably damaging	Het
Pramel22	T	C	4: 143,381,898 (GRCm39)	N266S	probably benign	Het
Prcp	A	G	7: 92,582,257 (GRCm39)	H449R	probably benign	Het
Prrc2c	A	G	1: 162,532,212 (GRCm39)	W1468R	unknown	Het
Rcvrn	A	G	11: 67,586,480 (GRCm39)	T80A	possibly damaging	Het
Rhou	T	C	8: 124,387,793 (GRCm39)	L175P	probably damaging	Het
Sacs	T	C	14: 61,444,115 (GRCm39)	S2054P	probably damaging	Het
Slc22a30	A	G	19: 8,321,917 (GRCm39)	S414P	probably benign	Het
Slc2a13	T	A	15: 91,227,906 (GRCm39)	S429C	probably damaging	Het
Slc35b3	A	G	13: 39,123,958 (GRCm39)		probably benign	Het
Smyd3	A	G	1: 178,877,854 (GRCm39)		probably null	Het
Strip1	T	A	3: 107,535,530 (GRCm39)	E64D	probably damaging	Het
Sumf2	T	G	5: 129,875,909 (GRCm39)	C25G	possibly damaging	Het
Syngap1	A	C	17: 27,182,057 (GRCm39)	D1190A	possibly damaging	Het
Tas2r139	C	T	6: 42,118,099 (GRCm39)	T77I	probably benign	Het
Tbce	A	T	13: 14,173,027 (GRCm39)	V468D	probably damaging	Het
Tmem191	G	A	16: 17,094,302 (GRCm39)	R42H	probably damaging	Het
Tmem200c	T	C	17: 69,147,633 (GRCm39)	V72A	probably damaging	Het
Ttc28	T	G	5: 111,371,342 (GRCm39)	F628C	probably benign	Het
Wsb2	G	A	5: 117,501,736 (GRCm39)	V34M	possibly damaging	Het
Zfand6	A	G	7: 84,283,558 (GRCm39)	S15P	probably damaging	Het
Zfp964	A	G	8: 70,115,873 (GRCm39)	N158D	possibly damaging	Het
Zic1	G	T	9: 91,246,542 (GRCm39)	Q177K	probably benign	Het
Zswim4	T	C	8: 84,963,633 (GRCm39)	M1V	probably null	Het

Other mutations in Or2n1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Or2n1b	APN	17	38,459,746 (GRCm39)	missense	probably benign
IGL02486:Or2n1b	APN	17	38,460,112 (GRCm39)	missense	probably damaging	1.00
IGL02574:Or2n1b	APN	17	38,460,280 (GRCm39)	missense	possibly damaging	0.56
PIT4243001:Or2n1b	UTSW	17	38,460,394 (GRCm39)	missense	probably benign	0.06
PIT4504001:Or2n1b	UTSW	17	38,460,060 (GRCm39)	missense	probably benign
R0726:Or2n1b	UTSW	17	38,459,515 (GRCm39)	missense	probably damaging	1.00
R2242:Or2n1b	UTSW	17	38,459,613 (GRCm39)	missense	possibly damaging	0.87
R2496:Or2n1b	UTSW	17	38,460,322 (GRCm39)	missense	possibly damaging	0.91
R4579:Or2n1b	UTSW	17	38,460,296 (GRCm39)	missense	probably damaging	1.00
R5085:Or2n1b	UTSW	17	38,460,003 (GRCm39)	missense	probably damaging	1.00
R6273:Or2n1b	UTSW	17	38,459,833 (GRCm39)	missense	possibly damaging	0.94
R6344:Or2n1b	UTSW	17	38,459,611 (GRCm39)	missense	probably benign	0.01
R7046:Or2n1b	UTSW	17	38,459,691 (GRCm39)	missense	probably benign	0.00
R7090:Or2n1b	UTSW	17	38,460,385 (GRCm39)	missense	probably benign	0.33
R7213:Or2n1b	UTSW	17	38,459,965 (GRCm39)	missense	probably benign	0.00
R8874:Or2n1b	UTSW	17	38,459,623 (GRCm39)	missense	possibly damaging	0.78
R9334:Or2n1b	UTSW	17	38,459,840 (GRCm39)	missense	probably benign	0.01
R9703:Or2n1b	UTSW	17	38,459,856 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ATACCCCACAGCCATGATTG -3'
(R):5'- AGGCAATTGCAGTGTTACAGTG -3'

Sequencing Primer
(F):5'- GCCATGATTGGAAACATTGCC -3'
(R):5'- TTACAGTGGCCTCTGAGACAG -3'

Posted On

2022-02-07