Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02631:Raver2'

301300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Raver2

Ensembl Gene

ENSMUSG00000035275

Gene Name

ribonucleoprotein, PTB-binding 2

Synonyms

A430091O22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02631

Quality Score

Status

Chromosome

Chromosomal Location

100926235-101009567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100953499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 89 (D89A)

Ref Sequence

ENSEMBL: ENSMUSP00000043142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038463] [ENSMUST00000106955]

AlphaFold

Q7TPD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038463
AA Change: D89A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275
AA Change: D89A

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
RRM	59	125	8.2e-11	SMART
RRM	132	205	1.67e-11	SMART
RRM	221	294	2.12e-4	SMART
low complexity region	362	379	N/A	INTRINSIC
low complexity region	499	512	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106955
AA Change: D89A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102568
Gene: ENSMUSG00000035275
AA Change: D89A

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
RRM	59	125	8.2e-11	SMART
RRM	132	205	1.67e-11	SMART
RRM	221	294	2.12e-4	SMART
low complexity region	362	379	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148148

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b2	A	G	6: 113,725,506 (GRCm39)	S1242P	probably damaging	Het
Bglap	A	T	3: 88,290,987 (GRCm39)	Y81*	probably null	Het
Ccdc83	T	C	7: 89,893,277 (GRCm39)	D160G	possibly damaging	Het
Cep97	A	T	16: 55,742,541 (GRCm39)	C135*	probably null	Het
Cog1	C	T	11: 113,547,304 (GRCm39)	Q633*	probably null	Het
Cyp4f40	A	T	17: 32,894,609 (GRCm39)		probably benign	Het
Dennd2c	T	A	3: 103,063,387 (GRCm39)	M608K	possibly damaging	Het
Enpp1	A	G	10: 24,517,859 (GRCm39)	S855P	probably damaging	Het
Eprs1	T	C	1: 185,160,095 (GRCm39)	I1457T	probably damaging	Het
Fam149b	G	A	14: 20,425,614 (GRCm39)	V300M	probably damaging	Het
Fcgbp	T	A	7: 27,784,723 (GRCm39)	L261Q	probably damaging	Het
Flt1	G	T	5: 147,610,384 (GRCm39)	S413*	probably null	Het
Flt3	T	G	5: 147,281,362 (GRCm39)	D790A	probably damaging	Het
Gpat2	A	G	2: 127,276,152 (GRCm39)		probably benign	Het
Gpr151	T	C	18: 42,711,835 (GRCm39)	K281R	probably benign	Het
Hoxa5	G	A	6: 52,180,790 (GRCm39)	R181C	probably damaging	Het
Irx4	C	T	13: 73,416,596 (GRCm39)	R331W	probably damaging	Het
Lmo2	T	C	2: 103,811,432 (GRCm39)	I155T	probably benign	Het
Nbeal2	G	A	9: 110,459,276 (GRCm39)	R1944C	probably damaging	Het
Obp2b	A	G	2: 25,629,255 (GRCm39)	N141S	probably damaging	Het
Or4c10b	T	A	2: 89,711,599 (GRCm39)	V143E	possibly damaging	Het
Or4c3d	T	A	2: 89,881,786 (GRCm39)	N294I	probably damaging	Het
Papss2	T	A	19: 32,611,404 (GRCm39)		probably benign	Het
Rapgef2	A	T	3: 78,990,533 (GRCm39)	M915K	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Setd2	A	G	9: 110,379,644 (GRCm39)	D1153G	possibly damaging	Het
Slc25a12	C	T	2: 71,127,086 (GRCm39)	G365E	possibly damaging	Het
Slc35e4	A	C	11: 3,857,729 (GRCm39)	V292G	probably damaging	Het
Slc36a4	T	C	9: 15,638,237 (GRCm39)	V221A	probably damaging	Het
Slc7a14	C	A	3: 31,292,827 (GRCm39)	A153S	probably damaging	Het
Smc1b	T	C	15: 84,991,204 (GRCm39)	D658G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tab3	A	G	X: 84,658,139 (GRCm39)	N222S	probably benign	Het
Tdrd6	T	A	17: 43,937,110 (GRCm39)	T1313S	probably damaging	Het
Tnfrsf1b	A	T	4: 144,951,398 (GRCm39)	C181S	probably damaging	Het
Trdn	A	T	10: 33,239,972 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,743,729 (GRCm39)	V526E	possibly damaging	Het
Trps1	T	C	15: 50,709,417 (GRCm39)	D311G	probably damaging	Het
Ttf1	A	G	2: 28,959,912 (GRCm39)	I507V	probably damaging	Het
Unc80	A	C	1: 66,569,222 (GRCm39)	D959A	probably damaging	Het
Unc93b1	T	C	19: 3,992,026 (GRCm39)		probably benign	Het
Utrn	A	G	10: 12,585,807 (GRCm39)	F990S	probably benign	Het
V1rd19	T	C	7: 23,702,825 (GRCm39)	L97P	probably damaging	Het

Other mutations in Raver2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Raver2	APN	4	100,960,065 (GRCm39)	missense	probably damaging	1.00
IGL00778:Raver2	APN	4	100,953,468 (GRCm39)	missense	probably benign	0.00
IGL01363:Raver2	APN	4	100,977,780 (GRCm39)	splice site	probably benign
R0071:Raver2	UTSW	4	100,977,642 (GRCm39)	splice site	probably benign
R0071:Raver2	UTSW	4	100,977,642 (GRCm39)	splice site	probably benign
R0792:Raver2	UTSW	4	100,960,147 (GRCm39)	missense	probably damaging	1.00
R1450:Raver2	UTSW	4	100,993,349 (GRCm39)	missense	possibly damaging	0.58
R2044:Raver2	UTSW	4	100,960,009 (GRCm39)	missense	probably damaging	1.00
R5127:Raver2	UTSW	4	100,960,182 (GRCm39)	missense	probably damaging	1.00
R5162:Raver2	UTSW	4	100,959,921 (GRCm39)	missense	probably damaging	1.00
R5342:Raver2	UTSW	4	100,959,889 (GRCm39)	missense	possibly damaging	0.47
R5557:Raver2	UTSW	4	100,993,336 (GRCm39)	missense	probably benign	0.04
R6190:Raver2	UTSW	4	100,990,814 (GRCm39)	missense	probably benign	0.00
R6248:Raver2	UTSW	4	100,991,320 (GRCm39)	splice site	probably null
R6449:Raver2	UTSW	4	100,990,869 (GRCm39)	missense	probably benign	0.41
R6640:Raver2	UTSW	4	100,988,500 (GRCm39)	missense	probably damaging	0.98
R6852:Raver2	UTSW	4	100,990,787 (GRCm39)	missense	probably benign	0.00
R7196:Raver2	UTSW	4	100,960,056 (GRCm39)	missense	probably damaging	1.00
R7449:Raver2	UTSW	4	100,959,860 (GRCm39)	missense	probably damaging	1.00
R7459:Raver2	UTSW	4	100,964,410 (GRCm39)	missense	possibly damaging	0.83
R8025:Raver2	UTSW	4	100,960,162 (GRCm39)	nonsense	probably null
R8843:Raver2	UTSW	4	100,994,942 (GRCm39)	missense	probably damaging	0.96
R8898:Raver2	UTSW	4	100,964,399 (GRCm39)	critical splice acceptor site	probably null
R9290:Raver2	UTSW	4	100,977,387 (GRCm39)	intron	probably benign
RF017:Raver2	UTSW	4	100,960,195 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16