Incidental Mutation 'IGL01682:Rprd1b'
ID103836
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: 0.956) question?
Stock #IGL01682
Quality Score
Status
Chromosome2
Chromosomal Location158028497-158132297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 158050160 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 201 (I201T)
Ref Sequence ENSEMBL: ENSMUSP00000118434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029180] [ENSMUST00000103123] [ENSMUST00000109518] [ENSMUST00000152452]
Predicted Effect probably damaging
Transcript: ENSMUST00000029180
AA Change: I201T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029180
Gene: ENSMUSG00000027651
AA Change: I201T

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: I200T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099412
Gene: ENSMUSG00000027651
AA Change: I200T

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 damaging
Transcript: ENSMUST00000109518
AA Change: I201T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105144
Gene: ENSMUSG00000027651
AA Change: I201T

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 noncoding transcript
Transcript: ENSMUST00000109519
Predicted Effect unknown
Transcript: ENSMUST00000128206
AA Change: I100T
SMART Domains Protein: ENSMUSP00000117807
Gene: ENSMUSG00000027651
AA Change: I100T

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 unknown
Transcript: ENSMUST00000135603
AA Change: I48T
SMART Domains Protein: ENSMUSP00000122419
Gene: ENSMUSG00000027651
AA Change: I48T

DomainStartEndE-ValueType
Pfam:CREPT 26 131 2e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152452
AA Change: I201T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118434
Gene: ENSMUSG00000027651
AA Change: I201T

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo T C 12: 37,357,627 probably benign Het
Atp2c1 C T 9: 105,452,842 G93D probably damaging Het
C2cd6 T G 1: 59,062,501 Y333S probably damaging Het
Cacna1a A G 8: 84,536,438 E414G possibly damaging Het
Capn10 C A 1: 92,940,384 T191K probably benign Het
Cd226 A T 18: 89,269,063 R328S probably damaging Het
Cdk10 A G 8: 123,227,658 probably null Het
Cyp4a31 T A 4: 115,578,031 V486D probably damaging Het
Dgke A T 11: 89,052,441 L241I probably damaging Het
Dnah6 G T 6: 73,075,802 A2965E probably damaging Het
Fbn2 A T 18: 58,072,671 C1112S probably damaging Het
Gm10228 T A 16: 89,041,185 Y77F unknown Het
Gng3 T C 19: 8,838,580 I25V probably benign Het
Gramd2 A G 9: 59,712,110 I61M possibly damaging Het
Hcar2 T C 5: 123,864,519 N307S probably benign Het
Iars G A 13: 49,709,658 E529K probably damaging Het
Ilvbl C T 10: 78,577,107 probably benign Het
Lrp1 T C 10: 127,574,978 K1447R probably benign Het
Mmp20 A G 9: 7,671,375 D426G probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr1289 G A 2: 111,483,843 G138S probably damaging Het
Olfr568 C T 7: 102,877,233 L38F probably benign Het
Pip4k2a A G 2: 18,997,968 S10P probably benign Het
Pth1r A T 9: 110,723,706 probably null Het
Rsbn1 A G 3: 103,962,380 N719S probably benign Het
Sorcs1 C T 19: 50,181,506 G939E probably benign Het
Ssfa2 A G 2: 79,635,637 Q33R probably damaging Het
St8sia5 A G 18: 77,248,500 K210E probably damaging Het
Trav3-1 G A 14: 52,581,192 V108M probably benign Het
Washc4 T C 10: 83,580,306 I820T possibly damaging Het
Other mutations in Rprd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02740:Rprd1b APN 2 158047979 missense probably damaging 0.99
IGL03335:Rprd1b APN 2 158074964 missense probably damaging 1.00
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 On2014-01-21