Incidental Mutation 'IGL03335:Rprd1b'
ID 417011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rprd1b
Ensembl Gene ENSMUSG00000027651
Gene Name regulation of nuclear pre-mRNA domain containing 1B
Synonyms 2810446G03Rik, Crept, 2610304G08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL03335
Quality Score
Status
Chromosome 2
Chromosomal Location 157870395-157920127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157916884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 288 (V288A)
Ref Sequence ENSEMBL: ENSMUSP00000099412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029180] [ENSMUST00000103123] [ENSMUST00000109518] [ENSMUST00000152452]
AlphaFold Q9CSU0
Predicted Effect probably damaging
Transcript: ENSMUST00000029180
AA Change: V289A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029180
Gene: ENSMUSG00000027651
AA Change: V289A

DomainStartEndE-ValueType
RPR 8 130 1.71e-53 SMART
low complexity region 132 145 N/A INTRINSIC
Pfam:CREPT 178 324 1.7e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103123
AA Change: V288A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099412
Gene: ENSMUSG00000027651
AA Change: V288A

DomainStartEndE-ValueType
RPR 8 130 1.71e-53 SMART
PDB:4NAD|A 176 325 1e-85 PDB
Blast:RPR 219 260 3e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109518
SMART Domains Protein: ENSMUSP00000105144
Gene: ENSMUSG00000027651

DomainStartEndE-ValueType
RPR 8 130 1.71e-53 SMART
low complexity region 132 145 N/A INTRINSIC
PDB:4FLA|D 171 265 4e-59 PDB
Blast:RPR 220 261 2e-12 BLAST
low complexity region 266 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128206
SMART Domains Protein: ENSMUSP00000117807
Gene: ENSMUSG00000027651

DomainStartEndE-ValueType
Blast:RPR 2 30 4e-12 BLAST
PDB:4HFG|B 2 30 4e-13 PDB
low complexity region 31 47 N/A INTRINSIC
Pfam:CREPT 78 192 5.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135603
SMART Domains Protein: ENSMUSP00000122419
Gene: ENSMUSG00000027651

DomainStartEndE-ValueType
Pfam:CREPT 26 131 2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152452
SMART Domains Protein: ENSMUSP00000118434
Gene: ENSMUSG00000027651

DomainStartEndE-ValueType
RPR 8 130 1.71e-53 SMART
low complexity region 132 145 N/A INTRINSIC
PDB:4FLA|D 171 222 3e-25 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186977
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,985,258 (GRCm39) V713A probably benign Het
Abtb3 A T 10: 85,494,222 (GRCm39) probably benign Het
Actr8 T C 14: 29,700,514 (GRCm39) V31A probably benign Het
Alcam A C 16: 52,111,366 (GRCm39) Y244* probably null Het
Ankrd24 A G 10: 81,482,967 (GRCm39) S972G probably benign Het
Aox1 T A 1: 58,115,319 (GRCm39) V768E probably damaging Het
Carmil2 A G 8: 106,423,661 (GRCm39) I1212V probably benign Het
Catsper1 C T 19: 5,386,339 (GRCm39) R191C probably damaging Het
Cenpe T A 3: 134,949,386 (GRCm39) V57D probably benign Het
Cpsf3 T C 12: 21,356,888 (GRCm39) probably null Het
Cubn A G 2: 13,365,140 (GRCm39) S1633P probably damaging Het
Dsg1c G A 18: 20,416,754 (GRCm39) R885Q probably benign Het
Egfl6 C A X: 165,321,689 (GRCm39) G272W probably damaging Het
Ermard T C 17: 15,279,668 (GRCm39) L486P probably damaging Het
F13b A T 1: 139,450,124 (GRCm39) L595F probably damaging Het
Foxm1 A G 6: 128,349,531 (GRCm39) N350S possibly damaging Het
Fras1 T C 5: 96,881,803 (GRCm39) probably benign Het
Gpr152 C A 19: 4,193,770 (GRCm39) T437N possibly damaging Het
Icmt T A 4: 152,385,154 (GRCm39) Y205* probably null Het
Ints8 A T 4: 11,216,460 (GRCm39) F844I probably damaging Het
Mep1a T A 17: 43,788,064 (GRCm39) D664V possibly damaging Het
Muc4 T A 16: 32,574,449 (GRCm39) N966K probably benign Het
Myo7b T A 18: 32,118,073 (GRCm39) Q851L possibly damaging Het
Pdzd2 T C 15: 12,373,850 (GRCm39) H2095R probably benign Het
Phldb1 A G 9: 44,639,366 (GRCm39) L4P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla8 T A 12: 44,329,947 (GRCm39) N166K probably benign Het
Qrfprl T C 6: 65,430,101 (GRCm39) probably null Het
Rapgef2 A G 3: 79,006,492 (GRCm39) M137T probably damaging Het
Rbm15b G A 9: 106,761,538 (GRCm39) H877Y probably damaging Het
Rbm45 T C 2: 76,206,777 (GRCm39) L263P probably damaging Het
Tmtc3 C A 10: 100,302,116 (GRCm39) V278L probably damaging Het
Tomm70a A G 16: 56,970,289 (GRCm39) T556A probably damaging Het
Trpc7 T C 13: 57,035,504 (GRCm39) E143G probably damaging Het
Trpm3 G T 19: 22,903,435 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,054,499 (GRCm39) E94G probably benign Het
Vmn1r174 T C 7: 23,453,937 (GRCm39) V201A probably benign Het
Zfp352 T C 4: 90,112,583 (GRCm39) F241S probably damaging Het
Other mutations in Rprd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01682:Rprd1b APN 2 157,892,080 (GRCm39) missense probably damaging 1.00
IGL02740:Rprd1b APN 2 157,889,899 (GRCm39) missense probably damaging 0.99
Rarefied UTSW 2 157,900,656 (GRCm39) missense probably damaging 1.00
PIT4585001:Rprd1b UTSW 2 157,889,877 (GRCm39) missense probably benign 0.00
R4761:Rprd1b UTSW 2 157,889,890 (GRCm39) missense probably damaging 0.96
R4860:Rprd1b UTSW 2 157,916,855 (GRCm39) nonsense probably null
R4860:Rprd1b UTSW 2 157,916,855 (GRCm39) nonsense probably null
R5352:Rprd1b UTSW 2 157,900,656 (GRCm39) missense probably damaging 1.00
R5409:Rprd1b UTSW 2 157,916,987 (GRCm39) missense probably damaging 1.00
R7251:Rprd1b UTSW 2 157,870,899 (GRCm39) missense probably damaging 1.00
R8083:Rprd1b UTSW 2 157,892,052 (GRCm39) missense probably damaging 0.98
X0028:Rprd1b UTSW 2 157,889,890 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02