Mutagenetix > Incidental Mutation

Incidental Mutation 'R0726:Or2n1b'

218886

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

038908-MU

Accession Numbers

Essential gene?

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

Stock #

R0726 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38459481-38460419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38459515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 12 (F12S)

Ref Sequence

ENSEMBL: ENSMUSP00000150597 (fasta)

Gene Model

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

AlphaFold

Q8VG94

Predicted Effect

probably damaging
Transcript: ENSMUST00000113636
AA Change: F12S

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

SMART Domains

Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: F12S

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: F12S

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

SMART Domains

Protein: ENSMUSP00000133824
Gene: ENSMUSG00000063240
AA Change: F12S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215078
AA Change: F12S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215549
AA Change: F12S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.1%
20x: 89.2%

Validation Efficiency

98% (90/92)

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
Acte1	A	G	7: 143,425,498 (GRCm39)	D49G	probably damaging	Het
Alg12	T	C	15: 88,690,850 (GRCm39)	Y256C	probably damaging	Het
Alox15	T	A	11: 70,241,021 (GRCm39)	D160V	probably damaging	Het
Aox1	T	C	1: 58,373,941 (GRCm39)		probably benign	Het
Bbs9	G	T	9: 22,705,119 (GRCm39)	A729S	probably damaging	Het
Bltp3a	T	C	17: 28,104,463 (GRCm39)	V503A	possibly damaging	Het
Bmp2k	T	A	5: 97,235,353 (GRCm39)		probably benign	Het
Braf	C	T	6: 39,639,082 (GRCm39)	R223Q	possibly damaging	Het
Cd101	A	T	3: 100,927,938 (GRCm39)	S48T	possibly damaging	Het
Cdh9	T	G	15: 16,831,130 (GRCm39)	D322E	probably benign	Het
Col28a1	C	T	6: 8,014,495 (GRCm39)		probably null	Het
Cpxm1	G	A	2: 130,232,859 (GRCm39)	R712W	probably damaging	Het
Csnk1g1	T	C	9: 65,939,637 (GRCm39)		probably benign	Het
Cyp2d37-ps	A	C	15: 82,574,650 (GRCm39)		noncoding transcript	Het
Cyth3	T	C	5: 143,678,397 (GRCm39)	V115A	probably benign	Het
Dnah9	C	T	11: 65,856,507 (GRCm39)	V2885M	probably damaging	Het
Dock9	G	T	14: 121,889,180 (GRCm39)	Y326*	probably null	Het
Espl1	T	C	15: 102,231,033 (GRCm39)	I1844T	probably benign	Het
Fam20a	T	A	11: 109,568,020 (GRCm39)	N357Y	probably damaging	Het
Fancc	C	A	13: 63,471,225 (GRCm39)	R385L	probably benign	Het
Foxe3	A	T	4: 114,782,447 (GRCm39)	L255H	unknown	Het
Frem2	T	C	3: 53,427,047 (GRCm39)	D2967G	possibly damaging	Het
Gabra6	T	G	11: 42,205,954 (GRCm39)	T301P	probably damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Grm4	T	A	17: 27,657,412 (GRCm39)		probably benign	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnj9	G	A	1: 172,153,488 (GRCm39)	S212F	probably damaging	Het
Kif15	C	A	9: 122,788,993 (GRCm39)	H62N	probably benign	Het
Kptn	A	G	7: 15,854,647 (GRCm39)	D106G	probably damaging	Het
Krtap13-1	T	A	16: 88,526,192 (GRCm39)	S139T	probably damaging	Het
Lepr	C	A	4: 101,622,131 (GRCm39)	N354K	probably benign	Het
Lypd3	G	T	7: 24,337,969 (GRCm39)	E112*	probably null	Het
Med13l	A	T	5: 118,886,749 (GRCm39)	N1550I	probably damaging	Het
Mettl2	C	T	11: 105,017,670 (GRCm39)	P60L	probably benign	Het
Mtcl2	G	T	2: 156,902,182 (GRCm39)	R278S	probably damaging	Het
Muc4	A	G	16: 32,590,201 (GRCm39)	E850G	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nek1	A	G	8: 61,542,626 (GRCm39)	R739G	probably damaging	Het
Nipbl	A	T	15: 8,381,039 (GRCm39)	D584E	probably benign	Het
Nkain3	C	T	4: 20,158,388 (GRCm39)	V162M	possibly damaging	Het
Nmrk1	T	C	19: 18,618,844 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,018,372 (GRCm39)		probably benign	Het
Or4b1	T	A	2: 89,979,627 (GRCm39)	H241L	probably damaging	Het
Or4p23	A	T	2: 88,576,352 (GRCm39)	N293K	probably benign	Het
Or5b24	T	A	19: 12,912,969 (GRCm39)	V289D	probably damaging	Het
Or8b44	T	A	9: 38,410,418 (GRCm39)	M151K	possibly damaging	Het
Otulinl	A	T	15: 27,657,033 (GRCm39)	I338N	probably damaging	Het
Phex	T	A	X: 156,155,557 (GRCm39)		probably benign	Het
Pip5k1b	G	T	19: 24,356,256 (GRCm39)	D227E	probably damaging	Het
Prdm13	A	G	4: 21,683,914 (GRCm39)	I119T	unknown	Het
Rab19	G	T	6: 39,360,893 (GRCm39)	V14L	probably benign	Het
Rasa3	A	G	8: 13,630,118 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,678,074 (GRCm39)	S118N	probably damaging	Het
Rif1	C	T	2: 52,000,365 (GRCm39)	T1273M	possibly damaging	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Sema6a	T	C	18: 47,425,048 (GRCm39)	T188A	probably damaging	Het
Sh3pxd2a	C	T	19: 47,257,201 (GRCm39)	E506K	probably damaging	Het
Smarca2	A	T	19: 26,675,803 (GRCm39)	K1014N	probably damaging	Het
Smarca4	T	G	9: 21,611,435 (GRCm39)		probably null	Het
Sntb1	T	C	15: 55,539,752 (GRCm39)	R361G	probably benign	Het
Stx5a	T	A	19: 8,732,275 (GRCm39)	I208N	probably damaging	Het
Tas2r102	T	A	6: 132,739,415 (GRCm39)	W108R	probably damaging	Het
Tcl1	A	G	12: 105,184,929 (GRCm39)	Y94H	probably damaging	Het
Tenm3	T	A	8: 48,689,629 (GRCm39)	Y1986F	probably damaging	Het
Tet2	G	A	3: 133,173,945 (GRCm39)	P1439L	probably benign	Het
Tiam2	T	C	17: 3,563,108 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,928,553 (GRCm39)	T526M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ushbp1	T	A	8: 71,841,391 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,915,169 (GRCm39)	R115C	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn2r5	C	T	3: 64,411,186 (GRCm39)	D461N	probably benign	Het
Vmn2r86	A	T	10: 130,282,265 (GRCm39)	F784I	probably damaging	Het
Zfp59	A	T	7: 27,553,513 (GRCm39)	I322F	probably damaging	Het
Zfp607a	A	T	7: 27,578,574 (GRCm39)	H548L	probably benign	Het
Zfp626	G	A	7: 27,518,048 (GRCm39)	C343Y	probably damaging	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
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
R9185:Or2n1b	UTSW	17	38,459,754 (GRCm39)	missense	probably damaging	1.00
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'- CACGATGGCATTTCAAGCGTGG -3'
(R):5'- TGGACACTAACAGGACACAGTTGC -3'

Sequencing Primer
(F):5'- CAAGCGTGGAATGCTAATCTTGG -3'
(R):5'- ACACCTCATGTAGCTGATGG -3'

Posted On

2014-08-22