Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Raver1'

258271

Institutional Source

Beutler Lab

Gene Symbol

Raver1

Ensembl Gene

ENSMUSG00000010205

Gene Name

ribonucleoprotein, PTB-binding 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21074158-21092008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21079277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 316 (P316S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115487] [ENSMUST00000217359]

AlphaFold

Q9CW46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115487
AA Change: P577S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111150
Gene: ENSMUSG00000010205
AA Change: P577S

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
RRM	60	126	1.53e-10	SMART
RRM	133	206	5.66e-14	SMART
RRM	222	295	1.15e-5	SMART
low complexity region	307	318	N/A	INTRINSIC
low complexity region	324	339	N/A	INTRINSIC
low complexity region	343	351	N/A	INTRINSIC
low complexity region	360	396	N/A	INTRINSIC
low complexity region	419	454	N/A	INTRINSIC
low complexity region	460	474	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	547	565	N/A	INTRINSIC
low complexity region	637	643	N/A	INTRINSIC
low complexity region	675	699	N/A	INTRINSIC
low complexity region	713	722	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183526

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217282
AA Change: P316S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217359
AA Change: P577S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit reduced long term potentiation and depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Raver1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Raver1	APN	9	21079240	missense	probably damaging	1.00
IGL02863:Raver1	APN	9	21075971	missense	probably damaging	0.98
IGL03128:Raver1	APN	9	21080742	missense	probably damaging	1.00
R0265:Raver1	UTSW	9	21075659	missense	probably benign	0.43
R1017:Raver1	UTSW	9	21079590	splice site	probably benign
R3177:Raver1	UTSW	9	21079277	missense	possibly damaging	0.90
R4092:Raver1	UTSW	9	21081272	missense	probably damaging	0.99
R4463:Raver1	UTSW	9	21091827	missense	probably benign	0.01
R5302:Raver1	UTSW	9	21075381	missense	probably damaging	1.00
R5652:Raver1	UTSW	9	21090312	missense	probably damaging	0.98
R6021:Raver1	UTSW	9	21076622	missense	probably damaging	1.00
R7065:Raver1	UTSW	9	21090294	missense	probably benign	0.00
R7833:Raver1	UTSW	9	21081314	missense	probably benign	0.11
R8480:Raver1	UTSW	9	21090280	missense	probably benign	0.29
R9662:Raver1	UTSW	9	21081254	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TTGGACCAAGAAAGCTCACACTG -3'
(R):5'- TGTTACAGGTCTCACTGCTG -3'

Sequencing Primer
(F):5'- GCACAGTCTGCAGATGAGC -3'
(R):5'- GAATCTACACAGCCTGCTTCC -3'

Posted On

2015-01-23