Mutagenetix > Incidental Mutation

Incidental Mutation 'R5700:Or2w1b'

450861

Institutional Source

Beutler Lab

Gene Symbol

Or2w1b

Ensembl Gene

ENSMUSG00000060404

Gene Name

olfactory receptor family 2 subfamily W member 1B

Synonyms

Olfr1369, MOR256-31, GA_x6K02T2QHY8-12126170-12125935

MMRRC Submission

043328-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R5700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21299764-21300871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21300171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 103 (V103E)

Ref Sequence

ENSEMBL: ENSMUSP00000151041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079050] [ENSMUST00000213326] [ENSMUST00000213922] [ENSMUST00000215207] [ENSMUST00000215941]

AlphaFold

A0A140T8K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079050
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078059
Gene: ENSMUSG00000060404
AA Change: V103E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.2e-47	PFAM
Pfam:7tm_1	41	290	1.1e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213326
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213922
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215207
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215941
AA Change: V103E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,786,633 (GRCm39)	Q155L	probably benign	Het
Acadvl	A	C	11: 69,904,029 (GRCm39)	Y242D	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Barx2	A	T	9: 31,770,061 (GRCm39)	F156I	probably damaging	Het
Best1	T	C	19: 9,974,563 (GRCm39)		probably benign	Het
Btbd8	T	C	5: 107,651,514 (GRCm39)	S136P	possibly damaging	Het
Btla	T	A	16: 45,070,936 (GRCm39)	Y298*	probably null	Het
Casr	T	A	16: 36,329,979 (GRCm39)	I452F	probably damaging	Het
Ccser1	C	A	6: 61,288,260 (GRCm39)	P141H	probably benign	Het
Cr2	A	G	1: 194,842,065 (GRCm39)	V296A	probably damaging	Het
Csl	T	A	10: 99,594,877 (GRCm39)	I63F	probably damaging	Het
Dbt	G	A	3: 116,313,952 (GRCm39)	V40M	probably damaging	Het
Fam53b	A	T	7: 132,361,749 (GRCm39)	L93Q	probably damaging	Het
Fdps	T	C	3: 89,002,956 (GRCm39)	I105V	probably damaging	Het
Gm4884	A	G	7: 40,692,643 (GRCm39)	D204G	probably benign	Het
Gm5592	A	G	7: 40,808,003 (GRCm39)		probably benign	Het
Gm7367	A	T	7: 59,805,510 (GRCm39)		noncoding transcript	Het
Grid2	T	A	6: 64,071,416 (GRCm39)	V413D	possibly damaging	Het
Hgf	C	T	5: 16,815,122 (GRCm39)	P471L	probably damaging	Het
Hoxc9	T	C	15: 102,890,313 (GRCm39)	Y77H	possibly damaging	Het
Hs6st3	C	T	14: 119,376,199 (GRCm39)	R125*	probably null	Het
Kdm4b	T	C	17: 56,658,700 (GRCm39)	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,755,476 (GRCm39)	N93S	probably benign	Het
Klhl6	G	A	16: 19,775,968 (GRCm39)	Q197*	probably null	Het
Medag	T	C	5: 149,345,682 (GRCm39)	V7A	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Nckap5	C	T	1: 125,904,662 (GRCm39)		probably null	Het
Obscn	T	C	11: 59,024,020 (GRCm39)	K550R	probably benign	Het
Or2d36	A	G	7: 106,746,748 (GRCm39)	N75S	probably benign	Het
Or5h25	T	A	16: 58,930,356 (GRCm39)	I206F	probably damaging	Het
Or7a42	T	C	10: 78,791,318 (GRCm39)	I93T	probably damaging	Het
Parp6	T	C	9: 59,532,010 (GRCm39)	S101P	probably damaging	Het
Plcd3	T	C	11: 102,964,589 (GRCm39)	N594S	probably benign	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Ppp2r1b	T	C	9: 50,789,457 (GRCm39)	Y443H	probably damaging	Het
Prnd	G	A	2: 131,795,263 (GRCm39)	V128I	probably benign	Het
Rftn1	G	T	17: 50,309,697 (GRCm39)	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,374,143 (GRCm39)	V445A	probably benign	Het
Serpinb6c	A	T	13: 34,083,291 (GRCm39)	M41K	probably damaging	Het
Slc66a1	C	T	4: 139,027,565 (GRCm39)	S259N	probably damaging	Het
Spns1	A	G	7: 125,971,641 (GRCm39)	V303A	possibly damaging	Het
Ston1	T	A	17: 88,951,767 (GRCm39)	S639R	probably damaging	Het
Thbs4	T	C	13: 92,913,461 (GRCm39)	D153G	probably benign	Het
Timm44	T	C	8: 4,324,171 (GRCm39)	Y36C	probably damaging	Het
Trim34b	G	T	7: 103,985,618 (GRCm39)	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,404,350 (GRCm39)	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084 (GRCm39)	V412A	probably benign	Het
Zfand1	T	A	3: 10,406,079 (GRCm39)	N210I	probably damaging	Het
Zfhx3	A	G	8: 109,660,499 (GRCm39)	H1251R	probably damaging	Het

Other mutations in Or2w1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01689:Or2w1b	APN	13	21,300,243 (GRCm39)	missense	probably damaging	0.97
R0631:Or2w1b	UTSW	13	21,300,078 (GRCm39)	missense	probably damaging	1.00
R0960:Or2w1b	UTSW	13	21,300,435 (GRCm39)	missense	possibly damaging	0.94
R1499:Or2w1b	UTSW	13	21,300,303 (GRCm39)	missense	probably benign	0.32
R1549:Or2w1b	UTSW	13	21,300,288 (GRCm39)	missense	probably benign	0.01
R1698:Or2w1b	UTSW	13	21,300,735 (GRCm39)	missense	probably benign	0.11
R1711:Or2w1b	UTSW	13	21,300,476 (GRCm39)	missense	probably benign	0.01
R2404:Or2w1b	UTSW	13	21,300,012 (GRCm39)	missense	probably damaging	1.00
R2471:Or2w1b	UTSW	13	21,300,599 (GRCm39)	missense	probably damaging	1.00
R3844:Or2w1b	UTSW	13	21,300,233 (GRCm39)	missense	possibly damaging	0.91
R3977:Or2w1b	UTSW	13	21,300,031 (GRCm39)	missense	probably benign	0.03
R3979:Or2w1b	UTSW	13	21,300,031 (GRCm39)	missense	probably benign	0.03
R4804:Or2w1b	UTSW	13	21,300,175 (GRCm39)	nonsense	probably null
R4914:Or2w1b	UTSW	13	21,300,567 (GRCm39)	missense	probably benign	0.12
R5210:Or2w1b	UTSW	13	21,300,222 (GRCm39)	missense	probably damaging	0.99
R5359:Or2w1b	UTSW	13	21,300,437 (GRCm39)	missense	probably damaging	1.00
R6218:Or2w1b	UTSW	13	21,300,401 (GRCm39)	missense	probably damaging	1.00
R6767:Or2w1b	UTSW	13	21,300,227 (GRCm39)	missense	probably benign	0.02
R7396:Or2w1b	UTSW	13	21,300,477 (GRCm39)	missense	probably benign	0.02
R7476:Or2w1b	UTSW	13	21,300,191 (GRCm39)	missense	probably benign	0.04
R7612:Or2w1b	UTSW	13	21,300,217 (GRCm39)	missense	probably damaging	0.99
R8257:Or2w1b	UTSW	13	21,300,543 (GRCm39)	missense	probably benign	0.11
R9388:Or2w1b	UTSW	13	21,300,774 (GRCm39)	missense	probably damaging	0.96
R9697:Or2w1b	UTSW	13	21,299,892 (GRCm39)	missense	probably benign	0.21
V8831:Or2w1b	UTSW	13	21,300,173 (GRCm39)	missense	possibly damaging	0.93
Z1176:Or2w1b	UTSW	13	21,300,771 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGGATTCTCTGACCACC -3'
(R):5'- TCGAGGCAAATTCACAGTGAG -3'

Sequencing Primer
(F):5'- GTGGGTAACACTGCTATAATTCTTGC -3'
(R):5'- GTGTGCATAATATTACAGAGTTGGCC -3'

Posted On

2017-01-03