Incidental Mutation 'IGL03335:Rprd1b'
ID417011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rprd1b
Ensembl Gene ENSMUSG00000027651
Gene Nameregulation of nuclear pre-mRNA domain containing 1B
Synonyms2610304G08Rik, Crept, 2810446G03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL03335
Quality Score
Status
Chromosome2
Chromosomal Location158028497-158132297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 158074964 bp
ZygosityHeterozygous
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]
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: 8,935,258 V713A probably benign Het
Actr8 T C 14: 29,978,557 V31A probably benign Het
Alcam A C 16: 52,291,003 Y244* probably null Het
Ankrd24 A G 10: 81,647,133 S972G probably benign Het
Aox1 T A 1: 58,076,160 V768E probably damaging Het
Btbd11 A T 10: 85,658,358 probably benign Het
C130060K24Rik T C 6: 65,453,117 probably null Het
Carmil2 A G 8: 105,697,029 I1212V probably benign Het
Catsper1 C T 19: 5,336,311 R191C probably damaging Het
Cenpe T A 3: 135,243,625 V57D probably benign Het
Cpsf3 T C 12: 21,306,887 probably null Het
Cubn A G 2: 13,360,329 S1633P probably damaging Het
Dsg1c G A 18: 20,283,697 R885Q probably benign Het
Egfl6 C A X: 166,538,693 G272W probably damaging Het
Ermard T C 17: 15,059,406 L486P probably damaging Het
F13b A T 1: 139,522,386 L595F probably damaging Het
Foxm1 A G 6: 128,372,568 N350S possibly damaging Het
Fras1 T C 5: 96,733,944 probably benign Het
Gpr152 C A 19: 4,143,771 T437N possibly damaging Het
Icmt T A 4: 152,300,697 Y205* probably null Het
Ints8 A T 4: 11,216,460 F844I probably damaging Het
Mep1a T A 17: 43,477,173 D664V possibly damaging Het
Muc4 T A 16: 32,753,021 N966K probably benign Het
Myo7b T A 18: 31,985,020 Q851L possibly damaging Het
Pdzd2 T C 15: 12,373,764 H2095R probably benign Het
Phldb1 A G 9: 44,728,069 L4P possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla8 T A 12: 44,283,164 N166K probably benign Het
Rapgef2 A G 3: 79,099,185 M137T probably damaging Het
Rbm15b G A 9: 106,884,339 H877Y probably damaging Het
Rbm45 T C 2: 76,376,433 L263P probably damaging Het
Tmtc3 C A 10: 100,466,254 V278L probably damaging Het
Tomm70a A G 16: 57,149,926 T556A probably damaging Het
Trpc7 T C 13: 56,887,691 E143G probably damaging Het
Trpm3 G T 19: 22,926,071 probably null Het
Ugt2b34 T C 5: 86,906,640 E94G probably benign Het
Vmn1r174 T C 7: 23,754,512 V201A probably benign Het
Zfp352 T C 4: 90,224,346 F241S probably damaging Het
Other mutations in Rprd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01682:Rprd1b APN 2 158050160 missense probably damaging 1.00
IGL02740:Rprd1b APN 2 158047979 missense probably damaging 0.99
Rarefied UTSW 2 158058736 missense probably damaging 1.00
PIT4585001:Rprd1b UTSW 2 158047957 missense probably benign 0.00
R4761:Rprd1b UTSW 2 158047970 missense probably damaging 0.96
R4860:Rprd1b UTSW 2 158074935 nonsense probably null
R4860:Rprd1b UTSW 2 158074935 nonsense probably null
R5352:Rprd1b UTSW 2 158058736 missense probably damaging 1.00
R5409:Rprd1b UTSW 2 158075067 missense probably damaging 1.00
R7251:Rprd1b UTSW 2 158028979 missense probably damaging 1.00
R8083:Rprd1b UTSW 2 158050132 missense probably damaging 0.98
X0028:Rprd1b UTSW 2 158047970 missense probably damaging 0.96
Posted On2016-08-02