Incidental Mutation 'R5302:Raver1'
ID 404302
Institutional Source Beutler Lab
Gene Symbol Raver1
Ensembl Gene ENSMUSG00000010205
Gene Name ribonucleoprotein, PTB-binding 1
Synonyms 1300006N24Rik
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.327) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 20985454-21003295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20986677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 739 (D739G)
Ref Sequence ENSEMBL: ENSMUSP00000151195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010348] [ENSMUST00000115487] [ENSMUST00000213826] [ENSMUST00000217359]
AlphaFold Q9CW46
Predicted Effect probably benign
Transcript: ENSMUST00000010348
SMART Domains Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677

DomainStartEndE-ValueType
Pfam:Fer2 64 147 5.3e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115487
AA Change: D739G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111150
Gene: ENSMUSG00000010205
AA Change: D739G

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000213826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216484
Predicted Effect probably damaging
Transcript: ENSMUST00000217359
AA Change: D739G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000217282
AA Change: D478G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217150
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly damaging Het
Other mutations in Raver1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01923:Raver1 APN 9 20,990,536 (GRCm39) missense probably damaging 1.00
IGL02863:Raver1 APN 9 20,987,267 (GRCm39) missense probably damaging 0.98
IGL03128:Raver1 APN 9 20,992,038 (GRCm39) missense probably damaging 1.00
R0265:Raver1 UTSW 9 20,986,955 (GRCm39) missense probably benign 0.43
R1017:Raver1 UTSW 9 20,990,886 (GRCm39) splice site probably benign
R3177:Raver1 UTSW 9 20,990,573 (GRCm39) missense possibly damaging 0.90
R3277:Raver1 UTSW 9 20,990,573 (GRCm39) missense possibly damaging 0.90
R4092:Raver1 UTSW 9 20,992,568 (GRCm39) missense probably damaging 0.99
R4463:Raver1 UTSW 9 21,003,123 (GRCm39) missense probably benign 0.01
R5652:Raver1 UTSW 9 21,001,608 (GRCm39) missense probably damaging 0.98
R6021:Raver1 UTSW 9 20,987,918 (GRCm39) missense probably damaging 1.00
R7065:Raver1 UTSW 9 21,001,590 (GRCm39) missense probably benign 0.00
R7833:Raver1 UTSW 9 20,992,610 (GRCm39) missense probably benign 0.11
R8480:Raver1 UTSW 9 21,001,576 (GRCm39) missense probably benign 0.29
R9662:Raver1 UTSW 9 20,992,550 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- ACATTCCTTGAGCTCCAGC -3'
(R):5'- TCACAGTCACCTGCTGAAG -3'

Sequencing Primer
(F):5'- CTCCAGCTGGTTGGTCAG -3'
(R):5'- CTGCTGAAGGTACGGGCAG -3'
Posted On 2016-07-22