Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00778:Raver2'

13770

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: 0.074) question?

Stock #

IGL00778

Quality Score

Status

Chromosome

Chromosomal Location

100926235-101009567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100953468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 79 (Q79K)

Ref Sequence

ENSEMBL: ENSMUSP00000102568 (fasta)

Gene Model

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

AlphaFold

Q7TPD6

Predicted Effect

probably benign
Transcript: ENSMUST00000038463
AA Change: Q79K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275
AA Change: Q79K

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

probably benign
Transcript: ENSMUST00000106955
AA Change: Q79K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102568
Gene: ENSMUSG00000035275
AA Change: Q79K

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	G	A	14: 44,401,391 (GRCm39)	H152Y	probably benign	Het
Abca1	T	C	4: 53,086,132 (GRCm39)	D457G	probably benign	Het
Atp8a1	T	G	5: 67,817,246 (GRCm39)	K913N	possibly damaging	Het
Cd180	G	A	13: 102,841,917 (GRCm39)	S321N	probably benign	Het
Cdc14b	T	C	13: 64,363,470 (GRCm39)	N264D	probably damaging	Het
Cenpf	A	T	1: 189,387,109 (GRCm39)	C1724S	probably benign	Het
Chil4	A	G	3: 106,109,113 (GRCm39)	S397P	probably benign	Het
Clpb	C	T	7: 101,427,815 (GRCm39)	R387*	probably null	Het
Csgalnact2	A	T	6: 118,103,233 (GRCm39)	M1K	probably null	Het
Enpp3	C	A	10: 24,674,160 (GRCm39)	C380F	probably damaging	Het
Gtf3c1	G	A	7: 125,266,546 (GRCm39)	R967W	probably damaging	Het
Hnrnpr	T	A	4: 136,066,856 (GRCm39)	D472E	unknown	Het
Klhl28	A	T	12: 64,996,840 (GRCm39)	D500E	probably damaging	Het
Lmo7	C	T	14: 102,148,321 (GRCm39)		probably benign	Het
Mphosph8	A	G	14: 56,911,900 (GRCm39)	I308V	probably benign	Het
Myo6	T	A	9: 80,190,868 (GRCm39)		probably null	Het
Nsmaf	C	T	4: 6,435,056 (GRCm39)		probably null	Het
Padi6	T	A	4: 140,454,934 (GRCm39)	I668L	possibly damaging	Het
Pigw	A	G	11: 84,768,150 (GRCm39)	I393T	possibly damaging	Het
Prg3	G	A	2: 84,824,076 (GRCm39)	C212Y	probably damaging	Het
Pwp1	T	C	10: 85,715,752 (GRCm39)	V267A	probably benign	Het
Sdr9c7	T	C	10: 127,745,697 (GRCm39)	S270P	probably damaging	Het
Sfmbt2	A	G	2: 10,406,818 (GRCm39)	E39G	probably damaging	Het
Strada	A	G	11: 106,061,976 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,855,500 (GRCm39)		probably benign	Het
Zic3	A	G	X: 57,079,779 (GRCm39)	Y424C	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
IGL01363:Raver2	APN	4	100,977,780 (GRCm39)	splice site	probably benign
IGL02631:Raver2	APN	4	100,953,499 (GRCm39)	missense	probably damaging	0.96
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

2012-12-06