Mutagenetix > Incidental Mutation

Incidental Mutation 'R5951:Or2f1b'

470884

Institutional Source

Beutler Lab

Gene Symbol

Or2f1b

Ensembl Gene

ENSMUSG00000095236

Gene Name

olfactory receptor family 2 subfamily F member 1B

Synonyms

18A, GA_x6K02T2P3E9-4797841-4796888, Olfr38, MOR257-2

MMRRC Submission

044141-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42738988-42739941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42739493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 169 (C169F)

Ref Sequence

ENSEMBL: ENSMUSP00000149726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074499] [ENSMUST00000215796]

AlphaFold

Q8VGP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000074499
AA Change: C169F

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

SMART Domains

Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: C169F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.8e-52	PFAM
Pfam:7tm_1	41	290	5.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215796
AA Change: C169F

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

Meta Mutation Damage Score

0.3068

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,811 (GRCm39)	E180D	probably damaging	Het
Add3	A	G	19: 53,232,720 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,590,620 (GRCm39)	I4396N	probably damaging	Het
Apc	C	T	18: 34,450,199 (GRCm39)	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,286,729 (GRCm39)	C51F	probably damaging	Het
Arid4b	T	C	13: 14,317,648 (GRCm39)	V177A	possibly damaging	Het
Atp13a1	T	A	8: 70,249,935 (GRCm39)	I343N	probably damaging	Het
Bcar1	T	C	8: 112,440,032 (GRCm39)	D654G	probably benign	Het
Brox	T	C	1: 183,064,072 (GRCm39)	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,524,577 (GRCm39)	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,047,562 (GRCm39)	K18Q	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,019,120 (GRCm39)	E478*	probably null	Het
Dgkq	A	T	5: 108,802,236 (GRCm39)	M443K	probably damaging	Het
Dhx32	A	T	7: 133,339,057 (GRCm39)	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,000,342 (GRCm39)	I93V	probably benign	Het
Ehmt2	C	T	17: 35,118,357 (GRCm39)	T44I	probably benign	Het
Enc1	T	C	13: 97,381,765 (GRCm39)	S92P	probably benign	Het
Epha5	T	C	5: 84,479,051 (GRCm39)		probably benign	Het
Eya4	T	A	10: 23,031,892 (GRCm39)	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,173 (GRCm39)	I490F	possibly damaging	Het
Galntl6	A	G	8: 58,415,436 (GRCm39)	V239A	probably benign	Het
Glg1	T	C	8: 111,892,323 (GRCm39)	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,876,893 (GRCm39)		noncoding transcript	Het
Gpd1l	C	T	9: 114,743,473 (GRCm39)	M142I	probably benign	Het
Helb	A	G	10: 119,927,653 (GRCm39)	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,802,255 (GRCm39)	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,875,753 (GRCm39)	S154N	possibly damaging	Het
Ice2	A	T	9: 69,319,651 (GRCm39)	T367S	possibly damaging	Het
Iqca1	A	T	1: 90,067,819 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,535,801 (GRCm39)	D1447E	probably benign	Het
Larp1	G	T	11: 57,940,765 (GRCm39)	M630I	probably benign	Het
Lrp2	A	G	2: 69,326,667 (GRCm39)		probably null	Het
Map4k3	G	T	17: 80,911,427 (GRCm39)	Q673K	probably benign	Het
Mettl16	A	G	11: 74,686,823 (GRCm39)	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,855,956 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,998,222 (GRCm39)	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,531 (GRCm39)	Y144H	probably damaging	Het
Or5t5	G	T	2: 86,616,571 (GRCm39)	V166L	probably benign	Het
Padi1	T	C	4: 140,542,140 (GRCm39)	Y594C	probably damaging	Het
Palm3	T	A	8: 84,756,049 (GRCm39)	D520E	probably benign	Het
Paox	G	A	7: 139,707,567 (GRCm39)	C130Y	probably damaging	Het
Parpbp	T	A	10: 87,975,769 (GRCm39)	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,721,708 (GRCm39)	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,405,229 (GRCm39)	D212V	probably benign	Het
Pi4ka	A	G	16: 17,121,006 (GRCm39)	F53L	probably damaging	Het
Pik3c2a	A	T	7: 115,967,419 (GRCm39)	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,710,625 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,906,492 (GRCm39)	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,598,011 (GRCm39)	S6L	probably benign	Het
Ptk2	T	G	15: 73,175,682 (GRCm39)	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,948,811 (GRCm39)	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,708,120 (GRCm39)	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,106,085 (GRCm39)	F217I	probably damaging	Het
Serhl	T	C	15: 82,987,237 (GRCm39)		probably benign	Het
Sh3tc2	A	G	18: 62,123,078 (GRCm39)	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,502,714 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,769 (GRCm39)	I110T	probably benign	Het
Syde1	C	A	10: 78,425,150 (GRCm39)	R287L	possibly damaging	Het
Tmem184c	C	T	8: 78,325,291 (GRCm39)		probably null	Het
Trmt44	C	A	5: 35,730,032 (GRCm39)		probably benign	Het
Ttbk2	G	T	2: 120,603,764 (GRCm39)	S256R	probably benign	Het
Ttll6	A	T	11: 96,036,336 (GRCm39)	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753 (GRCm39)		probably null	Het
Wsb2	A	T	5: 117,515,600 (GRCm39)	T402S	probably damaging	Het

Other mutations in Or2f1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Or2f1b	APN	6	42,739,046 (GRCm39)	missense	probably damaging	0.99
IGL01567:Or2f1b	APN	6	42,739,661 (GRCm39)	missense	probably benign	0.07
IGL02097:Or2f1b	APN	6	42,739,394 (GRCm39)	missense	probably damaging	0.98
IGL02186:Or2f1b	APN	6	42,739,880 (GRCm39)	missense	probably null	0.96
IGL02473:Or2f1b	APN	6	42,739,640 (GRCm39)	missense	probably damaging	1.00
R0541:Or2f1b	UTSW	6	42,739,154 (GRCm39)	missense	probably damaging	1.00
R1210:Or2f1b	UTSW	6	42,739,601 (GRCm39)	missense	possibly damaging	0.79
R1368:Or2f1b	UTSW	6	42,739,613 (GRCm39)	missense	possibly damaging	0.91
R2383:Or2f1b	UTSW	6	42,739,393 (GRCm39)	missense	probably benign	0.44
R4614:Or2f1b	UTSW	6	42,739,352 (GRCm39)	missense	probably benign	0.07
R4616:Or2f1b	UTSW	6	42,739,352 (GRCm39)	missense	probably benign	0.07
R4844:Or2f1b	UTSW	6	42,739,394 (GRCm39)	missense	probably damaging	0.98
R5121:Or2f1b	UTSW	6	42,739,931 (GRCm39)	nonsense	probably null
R6061:Or2f1b	UTSW	6	42,739,899 (GRCm39)	missense	probably damaging	0.99
R6336:Or2f1b	UTSW	6	42,739,591 (GRCm39)	missense	probably damaging	1.00
R7414:Or2f1b	UTSW	6	42,739,762 (GRCm39)	missense	probably damaging	1.00
R8344:Or2f1b	UTSW	6	42,739,499 (GRCm39)	missense	probably benign	0.03
R9603:Or2f1b	UTSW	6	42,739,672 (GRCm39)	nonsense	probably null
X0018:Or2f1b	UTSW	6	42,739,869 (GRCm39)	missense	probably damaging	0.99
Z1177:Or2f1b	UTSW	6	42,739,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATTTCTGAGCTGTGCAG -3'
(R):5'- TGAAAGGCTTTCCACCTTCC -3'

Sequencing Primer
(F):5'- TGGGATTGAGTTCCTTCTGC -3'
(R):5'- CCTCTGTGGACTGTATCTTTAAGATG -3'

Posted On

2017-03-31