Mutagenetix > Incidental Mutation

Incidental Mutation 'R6852:Raver2'

535009

Institutional Source

Beutler Lab

Gene Symbol

Raver2

Ensembl Gene

ENSMUSG00000035275

Gene Name

ribonucleoprotein, PTB-binding 2

Synonyms

A430091O22Rik

MMRRC Submission

045023-MU

Accession Numbers

Essential gene?

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

Stock #

R6852 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100926235-101009567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100990787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 387 (S387P)

Ref Sequence

ENSEMBL: ENSMUSP00000043142 (fasta)

Gene Model

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

AlphaFold

Q7TPD6

Predicted Effect

probably benign
Transcript: ENSMUST00000038463
AA Change: S387P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275
AA Change: S387P

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: S387P

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

SMART Domains

Protein: ENSMUSP00000102568
Gene: ENSMUSG00000035275
AA Change: S387P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,770,930 (GRCm39)	Q40*	probably null	Het
1700034E13Rik	T	C	18: 52,796,705 (GRCm39)	V81A	probably damaging	Het
A630089N07Rik	A	G	16: 97,866,855 (GRCm39)	I369T	probably benign	Het
Aatk	T	A	11: 119,901,294 (GRCm39)	Q977L	probably benign	Het
Abca4	A	T	3: 121,928,844 (GRCm39)	Q144H	probably damaging	Het
Ampd3	T	C	7: 110,401,753 (GRCm39)	F416L	probably benign	Het
Anks1b	A	G	10: 90,096,516 (GRCm39)	E425G	probably damaging	Het
Atm	A	G	9: 53,393,730 (GRCm39)	S1737P	possibly damaging	Het
Bsph1	T	A	7: 13,204,255 (GRCm39)		probably null	Het
Cabyr	C	T	18: 12,887,154 (GRCm39)	P262S	probably benign	Het
Cdc14a	G	A	3: 116,122,325 (GRCm39)	P214L	possibly damaging	Het
Cep128	C	A	12: 91,333,116 (GRCm39)		probably null	Het
Cfh	T	A	1: 140,075,487 (GRCm39)	R250S	probably damaging	Het
Ddx39a	T	C	8: 84,449,646 (GRCm39)	I417T	probably benign	Het
Dgka	T	A	10: 128,558,408 (GRCm39)	K548M	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Elapor1	T	C	3: 108,389,654 (GRCm39)	E203G	probably damaging	Het
Epg5	C	T	18: 78,056,106 (GRCm39)	T1760I	probably damaging	Het
Fat1	T	C	8: 45,488,635 (GRCm39)	V3472A	possibly damaging	Het
Fbxo48	T	A	11: 16,903,402 (GRCm39)	N9K	probably benign	Het
Fcgbpl1	T	A	7: 27,846,560 (GRCm39)	I1084N	probably damaging	Het
Fer1l6	A	T	15: 58,466,727 (GRCm39)	H833L	probably damaging	Het
Foxn1	G	T	11: 78,251,786 (GRCm39)	Q482K	probably benign	Het
Fstl5	A	G	3: 76,615,162 (GRCm39)	D741G	probably damaging	Het
Gmip	C	T	8: 70,270,641 (GRCm39)	Q55*	probably null	Het
H2-T5	T	C	17: 36,478,965 (GRCm39)	N95D	possibly damaging	Het
Hapln2	G	A	3: 87,929,958 (GRCm39)	T306M	possibly damaging	Het
Kat6a	T	A	8: 23,428,676 (GRCm39)	S1344T	probably benign	Het
Kctd1	C	T	18: 15,119,401 (GRCm39)	D705N	possibly damaging	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Micall2	G	T	5: 139,701,548 (GRCm39)	A482D	possibly damaging	Het
Mindy3	T	A	2: 12,424,063 (GRCm39)	M1L	possibly damaging	Het
Mtdh	A	G	15: 34,136,867 (GRCm39)	E352G	probably damaging	Het
Muc5ac	G	A	7: 141,370,644 (GRCm39)	V3219I	probably benign	Het
Myh4	A	G	11: 67,143,794 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,234,071 (GRCm39)	I377T	probably damaging	Het
Oog4	C	A	4: 143,165,679 (GRCm39)	C156F	possibly damaging	Het
Or5m9	A	T	2: 85,876,948 (GRCm39)	I41F	probably benign	Het
Pcyt1a	T	C	16: 32,288,938 (GRCm39)	S260P	probably damaging	Het
Phf3	A	T	1: 30,843,711 (GRCm39)	F1749L	probably damaging	Het
Prickle2	T	C	6: 92,353,525 (GRCm39)	D647G	probably benign	Het
Relch	T	C	1: 105,681,320 (GRCm39)	L1184P	probably damaging	Het
Rgs19	A	G	2: 181,330,941 (GRCm39)	S231P	possibly damaging	Het
Rpl8	G	T	15: 76,790,149 (GRCm39)	R198L	probably benign	Het
Sacs	T	A	14: 61,416,737 (GRCm39)	S77T	possibly damaging	Het
Samd14	G	A	11: 94,912,280 (GRCm39)	G219D	probably damaging	Het
Sec16a	C	T	2: 26,331,431 (GRCm39)	V195M	probably damaging	Het
Sesn2	C	T	4: 132,221,113 (GRCm39)	V453I	possibly damaging	Het
Slc46a3	A	T	5: 147,822,970 (GRCm39)	C291S	probably damaging	Het
Smarcal1	A	G	1: 72,630,332 (GRCm39)	T129A	possibly damaging	Het
Sorl1	T	A	9: 41,935,694 (GRCm39)	R1041W	possibly damaging	Het
Sptlc3	T	C	2: 139,408,506 (GRCm39)	I207T	probably benign	Het
Srgap3	T	C	6: 112,793,622 (GRCm39)	D118G	probably damaging	Het
Tas2r117	T	A	6: 132,779,892 (GRCm39)	V10D	probably benign	Het
Tbcd	A	G	11: 121,500,206 (GRCm39)	K1111E	probably benign	Het
Tor1aip1	A	T	1: 155,911,566 (GRCm39)	L139Q	probably damaging	Het
Trbv23	T	C	6: 41,193,181 (GRCm39)	V23A	probably damaging	Het
Ttll3	AAGTA	AAGTATAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttll3	GGCAAAG	GGCAAAGCAAAG	6: 113,376,116 (GRCm39)		probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r42	T	G	6: 89,821,769 (GRCm39)	T267P	possibly damaging	Het
Vmn2r53	C	A	7: 12,340,441 (GRCm39)	V11F	probably damaging	Het
Vmn2r67	T	C	7: 84,801,361 (GRCm39)	M192V	probably damaging	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Zdhhc1	C	T	8: 106,203,704 (GRCm39)	G156S	possibly damaging	Het
Zfp318	AGAAG	AGAAGAGGAAG	17: 46,723,464 (GRCm39)		probably benign	Het
Zfp318	GAAGAA	GAAGAAAAAGAA	17: 46,723,459 (GRCm39)		probably benign	Het
Zfp318	AAGAAG	AAGAAGTAGAAG	17: 46,723,460 (GRCm39)		probably benign	Het
Zfp560	A	G	9: 20,259,339 (GRCm39)	C508R	probably damaging	Het
Zfp654	G	A	16: 64,606,961 (GRCm39)	L414F	probably damaging	Het
Zfp872	A	T	9: 22,111,355 (GRCm39)	Y278F	probably damaging	Het
Zscan20	T	C	4: 128,483,515 (GRCm39)	S385G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATATTCCCTGAGGGTGAAAGTAG -3'
(R):5'- GGTAACACGTGTGAAATGGC -3'

Sequencing Primer
(F):5'- CTGGCTGGACTTAAACTCAGAGATC -3'
(R):5'- TGGCACCATTTCACCAACGG -3'

Posted On

2018-09-12