Mutagenetix > Incidental Mutation

Incidental Mutation 'R7985:Or2w3b'

651439

Institutional Source

Beutler Lab

Gene Symbol

Or2w3b

Ensembl Gene

ENSMUSG00000060030

Gene Name

olfactory receptor family 2 subfamily W member 3B

Synonyms

Olfr317, GA_x6K02T2NKPP-680866-681849, MOR256-47

MMRRC Submission

046026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58622922-58624049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58623532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 153 (V153A)

Ref Sequence

ENSEMBL: ENSMUSP00000150575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075607] [ENSMUST00000215513] [ENSMUST00000216196]

AlphaFold

Q5NCD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075607
AA Change: V153A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075034
Gene: ENSMUSG00000060030
AA Change: V153A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-50	PFAM
Pfam:7tm_1	41	290	5.8e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215513
AA Change: V153A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216196
AA Change: V153A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,494,693 (GRCm39)	S77R	unknown	Het
Adamts1	T	C	16: 85,595,002 (GRCm39)	Y582C	probably damaging	Het
Ahnak2	A	T	12: 112,745,398 (GRCm39)	V683E		Het
Allc	T	G	12: 28,603,971 (GRCm39)	T371P	probably damaging	Het
Ankrd12	A	G	17: 66,291,191 (GRCm39)	I1414T	probably benign	Het
Bahcc1	A	G	11: 120,163,717 (GRCm39)	K672E	probably damaging	Het
C3ar1	A	T	6: 122,826,964 (GRCm39)	S418T	probably damaging	Het
Calca	A	G	7: 114,234,413 (GRCm39)	V12A	possibly damaging	Het
Carmil3	A	G	14: 55,734,409 (GRCm39)	E410G	probably benign	Het
Cfh	A	G	1: 140,036,564 (GRCm39)	F680S	probably damaging	Het
Cracd	T	C	5: 76,805,897 (GRCm39)	V123A	unknown	Het
Csf3	G	A	11: 98,593,273 (GRCm39)	G130D	probably damaging	Het
Cuedc1	A	T	11: 88,073,342 (GRCm39)	Q169L	probably benign	Het
Cyp2c66	T	A	19: 39,102,430 (GRCm39)	W20R	probably null	Het
Dguok	C	T	6: 83,457,914 (GRCm39)	E240K	probably damaging	Het
Dlg1	T	G	16: 31,606,923 (GRCm39)	Y220*	probably null	Het
Dnah7a	T	C	1: 53,557,886 (GRCm39)	Y2176C	probably damaging	Het
Dnai1	T	C	4: 41,630,055 (GRCm39)	I488T	probably benign	Het
Dock1	G	T	7: 134,348,683 (GRCm39)	C299F	possibly damaging	Het
Ebi3	C	T	17: 56,260,997 (GRCm39)	T59M	probably benign	Het
Esrp1	G	A	4: 11,367,153 (GRCm39)	S160F	probably benign	Het
Evi5l	A	G	8: 4,253,536 (GRCm39)	D471G	probably benign	Het
Farp2	T	C	1: 93,504,246 (GRCm39)	F341S	probably damaging	Het
Fbn1	A	G	2: 125,143,798 (GRCm39)	V2777A	probably benign	Het
Glcci1	T	C	6: 8,573,186 (GRCm39)	I225T	probably damaging	Het
Gm3336	A	G	8: 71,173,176 (GRCm39)	T63A	unknown	Het
Gm9767	A	G	10: 25,954,681 (GRCm39)	T78A	unknown	Het
H2-T5	T	G	17: 36,478,445 (GRCm39)	T168P	probably damaging	Het
Habp4	T	A	13: 64,323,860 (GRCm39)	M261K	probably benign	Het
Herc2	A	G	7: 55,814,992 (GRCm39)	T2744A	probably benign	Het
Hlx	A	G	1: 184,464,223 (GRCm39)	V39A	probably benign	Het
Ifi204	G	A	1: 173,587,772 (GRCm39)	T129I	possibly damaging	Het
Itfg1	A	G	8: 86,452,197 (GRCm39)	I534T	probably damaging	Het
Klhl33	A	T	14: 51,128,962 (GRCm39)	C496S	probably benign	Het
Lamb1	T	A	12: 31,350,214 (GRCm39)	V713D	possibly damaging	Het
Mon2	G	T	10: 122,852,213 (GRCm39)	H1052Q	probably damaging	Het
Ndst2	T	C	14: 20,778,478 (GRCm39)		probably null	Het
Nphp1	A	T	2: 127,587,829 (GRCm39)	M582K	probably damaging	Het
Nt5el	C	T	13: 105,256,482 (GRCm39)	T517I	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or8b47	T	A	9: 38,435,239 (GRCm39)	D70E	probably damaging	Het
Padi2	A	T	4: 140,659,403 (GRCm39)	H236L	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Psenen	T	C	7: 30,261,503 (GRCm39)	I75V	probably benign	Het
Pycr1	A	T	11: 120,533,746 (GRCm39)	M37K	probably benign	Het
Rpl4	T	A	9: 64,085,212 (GRCm39)	N317K	probably damaging	Het
Scart2	T	A	7: 139,876,806 (GRCm39)	D732E	probably damaging	Het
Scn8a	T	A	15: 100,914,843 (GRCm39)		probably null	Het
Sdk1	A	G	5: 142,113,602 (GRCm39)	T1550A	probably damaging	Het
Shisa6	G	T	11: 66,265,990 (GRCm39)	T246K		Het
Sis	A	T	3: 72,844,294 (GRCm39)		probably null	Het
Slc22a14	A	C	9: 118,999,704 (GRCm39)	S496A	probably benign	Het
Slc8a3	G	A	12: 81,361,767 (GRCm39)	R351C	probably damaging	Het
Surf2	A	G	2: 26,809,288 (GRCm39)	K202R	probably benign	Het
Tnxb	T	A	17: 34,935,984 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,239,983 (GRCm39)	N134I	probably damaging	Het
Wdr97	T	C	15: 76,245,687 (GRCm39)	V1308A		Het
Xpr1	G	A	1: 155,188,641 (GRCm39)	A333V	possibly damaging	Het
Zfp408	A	T	2: 91,476,776 (GRCm39)	M126K	probably benign	Het
Zfy2	T	C	Y: 2,116,263 (GRCm39)	Q259R	probably benign	Het

Other mutations in Or2w3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02692:Or2w3b	APN	11	58,623,343 (GRCm39)	missense	probably benign	0.07
IGL03330:Or2w3b	APN	11	58,623,745 (GRCm39)	missense	probably damaging	1.00
R0554:Or2w3b	UTSW	11	58,623,865 (GRCm39)	missense	probably damaging	1.00
R1109:Or2w3b	UTSW	11	58,623,742 (GRCm39)	missense	probably benign	0.03
R2012:Or2w3b	UTSW	11	58,623,214 (GRCm39)	missense	possibly damaging	0.60
R2243:Or2w3b	UTSW	11	58,623,271 (GRCm39)	missense	probably damaging	1.00
R2253:Or2w3b	UTSW	11	58,623,821 (GRCm39)	missense	probably benign	0.23
R5400:Or2w3b	UTSW	11	58,623,146 (GRCm39)	missense	possibly damaging	0.74
R6551:Or2w3b	UTSW	11	58,623,583 (GRCm39)	missense	probably damaging	0.99
R6944:Or2w3b	UTSW	11	58,623,068 (GRCm39)	missense	possibly damaging	0.93
R7144:Or2w3b	UTSW	11	58,623,571 (GRCm39)	missense	probably damaging	1.00
R7636:Or2w3b	UTSW	11	58,623,273 (GRCm39)	missense	possibly damaging	0.83
R8201:Or2w3b	UTSW	11	58,623,940 (GRCm39)	missense	probably damaging	1.00
R8374:Or2w3b	UTSW	11	58,623,724 (GRCm39)	missense	probably damaging	0.97
R8692:Or2w3b	UTSW	11	58,623,595 (GRCm39)	missense	probably damaging	1.00
R9006:Or2w3b	UTSW	11	58,623,188 (GRCm39)	nonsense	probably null
Z1186:Or2w3b	UTSW	11	58,624,048 (GRCm39)	intron	probably benign
Z1186:Or2w3b	UTSW	11	58,623,200 (GRCm39)	missense	probably benign	0.02
Z1186:Or2w3b	UTSW	11	58,623,475 (GRCm39)	missense	probably benign
Z1187:Or2w3b	UTSW	11	58,624,048 (GRCm39)	intron	probably benign
Z1187:Or2w3b	UTSW	11	58,623,200 (GRCm39)	missense	probably benign	0.02
Z1187:Or2w3b	UTSW	11	58,623,295 (GRCm39)	missense	probably benign	0.04
Z1187:Or2w3b	UTSW	11	58,623,475 (GRCm39)	missense	probably benign
Z1188:Or2w3b	UTSW	11	58,623,475 (GRCm39)	missense	probably benign
Z1188:Or2w3b	UTSW	11	58,623,295 (GRCm39)	missense	probably benign	0.04
Z1188:Or2w3b	UTSW	11	58,623,200 (GRCm39)	missense	probably benign	0.02
Z1188:Or2w3b	UTSW	11	58,624,048 (GRCm39)	intron	probably benign
Z1189:Or2w3b	UTSW	11	58,624,048 (GRCm39)	intron	probably benign
Z1189:Or2w3b	UTSW	11	58,623,475 (GRCm39)	missense	probably benign
Z1190:Or2w3b	UTSW	11	58,623,475 (GRCm39)	missense	probably benign
Z1190:Or2w3b	UTSW	11	58,623,295 (GRCm39)	missense	probably benign	0.04
Z1190:Or2w3b	UTSW	11	58,623,200 (GRCm39)	missense	probably benign	0.02
Z1190:Or2w3b	UTSW	11	58,624,048 (GRCm39)	intron	probably benign
Z1191:Or2w3b	UTSW	11	58,623,475 (GRCm39)	missense	probably benign
Z1191:Or2w3b	UTSW	11	58,623,295 (GRCm39)	missense	probably benign	0.04
Z1191:Or2w3b	UTSW	11	58,623,200 (GRCm39)	missense	probably benign	0.02
Z1191:Or2w3b	UTSW	11	58,624,048 (GRCm39)	intron	probably benign
Z1192:Or2w3b	UTSW	11	58,623,475 (GRCm39)	missense	probably benign
Z1192:Or2w3b	UTSW	11	58,623,295 (GRCm39)	missense	probably benign	0.04
Z1192:Or2w3b	UTSW	11	58,623,200 (GRCm39)	missense	probably benign	0.02
Z1192:Or2w3b	UTSW	11	58,624,048 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAACACCGCTCTTACAATG -3'
(R):5'- AGACCATCAGCTATGTGGGC -3'

Sequencing Primer
(F):5'- CGCTCTTACAATGTAACCATAGGAG -3'
(R):5'- AGCTATGTGGGCTGTGCTC -3'

Posted On

2020-09-15