Mutagenetix > Incidental Mutation

Incidental Mutation 'R1109:Or2w3b'

98668

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

039182-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1109 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58622922-58624049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58623742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 83 (Y83C)

Ref Sequence

ENSEMBL: ENSMUSP00000150027 (fasta)

Gene Model

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

AlphaFold

Q5NCD6

Predicted Effect

probably benign
Transcript: ENSMUST00000075607
AA Change: Y83C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075034
Gene: ENSMUSG00000060030
AA Change: Y83C

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

probably benign
Transcript: ENSMUST00000215513
AA Change: Y83C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000216196
AA Change: Y83C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.1727

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 88.9%

Validation Efficiency

100% (80/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	T	G	3: 121,573,245 (GRCm39)	E262D	probably damaging	Het
Abcg1	G	A	17: 31,330,210 (GRCm39)	A504T	probably benign	Het
Acot11	T	C	4: 106,606,545 (GRCm39)	T515A	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Arhgap44	T	A	11: 64,917,642 (GRCm39)	H375L	probably benign	Het
Aspm	A	T	1: 139,384,496 (GRCm39)	I98F	probably damaging	Het
Atp8b5	T	C	4: 43,305,719 (GRCm39)		probably benign	Het
Coa3	T	C	11: 101,169,611 (GRCm39)	K48R	probably damaging	Het
Col12a1	A	G	9: 79,607,005 (GRCm39)	S473P	probably damaging	Het
Dnmt1	A	T	9: 20,833,684 (GRCm39)	Y451N	probably damaging	Het
Dock5	A	G	14: 68,043,927 (GRCm39)	Y819H	possibly damaging	Het
Dtx1	G	A	5: 120,848,484 (GRCm39)		probably benign	Het
Dus2	T	A	8: 106,780,114 (GRCm39)	F479I	probably benign	Het
Elp1	T	C	4: 56,786,723 (GRCm39)	T407A	probably benign	Het
Esrp1	T	C	4: 11,365,205 (GRCm39)	E262G	probably damaging	Het
Exoc4	A	G	6: 33,418,951 (GRCm39)	Y466C	probably damaging	Het
Fasn	A	G	11: 120,703,150 (GRCm39)	F1625S	possibly damaging	Het
Fbxw25	A	T	9: 109,479,128 (GRCm39)	H374Q	probably benign	Het
Focad	T	C	4: 88,114,984 (GRCm39)		probably benign	Het
Gad2	G	T	2: 22,571,406 (GRCm39)	R448L	probably damaging	Het
Gad2	G	A	2: 22,580,171 (GRCm39)		probably benign	Het
Galnt16	G	T	12: 80,637,405 (GRCm39)	E377D	probably benign	Het
Gcc1	A	C	6: 28,419,166 (GRCm39)	L389R	probably damaging	Het
Ggct	A	T	6: 54,966,554 (GRCm39)		probably benign	Het
Gm7052	G	A	17: 22,259,133 (GRCm39)		probably benign	Het
Gps2	T	A	11: 69,806,507 (GRCm39)	H177Q	possibly damaging	Het
Heg1	T	A	16: 33,583,961 (GRCm39)	L1256Q	probably damaging	Het
Il36a	G	A	2: 24,106,602 (GRCm39)	G62E	probably damaging	Het
Il3ra	C	T	14: 14,349,317 (GRCm38)	R138W	probably damaging	Het
Itprid1	G	T	6: 55,945,245 (GRCm39)	K655N	probably damaging	Het
Kdm4b	T	A	17: 56,706,430 (GRCm39)	I848N	probably damaging	Het
L3hypdh	A	G	12: 72,120,770 (GRCm39)	V327A	possibly damaging	Het
Lepr	G	T	4: 101,628,552 (GRCm39)	L552F	probably damaging	Het
Lpin3	T	C	2: 160,740,941 (GRCm39)	I449T	probably damaging	Het
Lrrn1	A	G	6: 107,544,225 (GRCm39)	K8E	probably benign	Het
Mex3a	G	T	3: 88,443,967 (GRCm39)	D348Y	possibly damaging	Het
Mindy2	G	A	9: 70,538,361 (GRCm39)	R325*	probably null	Het
Mkrn1	A	T	6: 39,376,268 (GRCm39)	M382K	probably damaging	Het
Mroh1	G	T	15: 76,330,709 (GRCm39)		probably benign	Het
Myo15a	T	A	11: 60,383,892 (GRCm39)	D1646E	probably damaging	Het
Neu2	A	G	1: 87,524,450 (GRCm39)	D145G	probably damaging	Het
Obi1	A	T	14: 104,717,200 (GRCm39)	L391*	probably null	Het
Or10ah1-ps1	A	T	5: 143,123,374 (GRCm39)	N216K	probably benign	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Plekhm2	T	A	4: 141,355,295 (GRCm39)	I938F	probably benign	Het
Pnma8a	A	T	7: 16,695,392 (GRCm39)	K416*	probably null	Het
Ppid	T	C	3: 79,506,168 (GRCm39)	S198P	probably benign	Het
Rabl6	G	T	2: 25,477,538 (GRCm39)	P304Q	probably damaging	Het
Rasal2	A	T	1: 157,005,208 (GRCm39)		probably benign	Het
Ripor1	G	T	8: 106,345,560 (GRCm39)		probably benign	Het
Rnf216	A	T	5: 143,054,124 (GRCm39)	L658Q	probably damaging	Het
Safb	T	A	17: 56,908,228 (GRCm39)		probably benign	Het
Sf3b5	T	C	10: 12,884,497 (GRCm39)	M44T	probably benign	Het
Slc26a9	A	T	1: 131,686,536 (GRCm39)	M419L	probably benign	Het
Slc38a8	T	C	8: 120,209,394 (GRCm39)	D393G	probably benign	Het
Slc6a3	A	G	13: 73,705,199 (GRCm39)	D230G	probably benign	Het
Smc1b	T	C	15: 84,997,016 (GRCm39)	T535A	probably damaging	Het
Smg7	G	C	1: 152,721,334 (GRCm39)	P626R	probably damaging	Het
Smu1	C	T	4: 40,755,722 (GRCm39)	V48M	probably benign	Het
Spag17	T	C	3: 99,934,667 (GRCm39)	Y650H	possibly damaging	Het
Spata1	C	T	3: 146,181,053 (GRCm39)	V302I	possibly damaging	Het
Sptb	G	A	12: 76,650,377 (GRCm39)	A1780V	probably damaging	Het
Srrm2	G	A	17: 24,038,591 (GRCm39)		probably benign	Het
Sspo	A	C	6: 48,474,377 (GRCm39)	N4933H	probably damaging	Het
Sult2a2	T	C	7: 13,468,798 (GRCm39)	I88T	probably benign	Het
Tgfa	G	T	6: 86,247,072 (GRCm39)		probably benign	Het
Thsd1	T	A	8: 22,733,708 (GRCm39)	C252S	possibly damaging	Het
Tmem102	T	A	11: 69,695,630 (GRCm39)	H114L	probably damaging	Het
Tnni3k	T	A	3: 154,498,414 (GRCm39)	K808N	possibly damaging	Het
Trpm7	G	T	2: 126,639,713 (GRCm39)	L1628M	probably benign	Het
Ttn	A	G	2: 76,561,081 (GRCm39)	Y29107H	probably damaging	Het
Upb1	T	C	10: 75,273,999 (GRCm39)	L342P	probably damaging	Het
Vmn2r120	T	C	17: 57,832,829 (GRCm39)	T117A	probably benign	Het
Vmn2r16	A	G	5: 109,487,652 (GRCm39)	D175G	probably damaging	Het
Vps35l	A	T	7: 118,374,552 (GRCm39)	I351F	probably damaging	Het
Zfhx4	T	G	3: 5,464,930 (GRCm39)	M1696R	possibly damaging	Het
Zfp746	A	G	6: 48,041,856 (GRCm39)	V289A	possibly damaging	Het
Zfyve26	A	C	12: 79,318,901 (GRCm39)	F1146V	probably damaging	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
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
R7985:Or2w3b	UTSW	11	58,623,532 (GRCm39)	missense	possibly damaging	0.49
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'- ATCTCGCAGAGGAAGTGATCCACC -3'
(R):5'- CGACAGCACCTTCAGCCATTTCATC -3'

Sequencing Primer
(F):5'- AGGAAGTGATCCACCCTGTG -3'
(R):5'- TTCTCTGACCGGCCTGAG -3'

Posted On

2014-01-05