Incidental Mutation 'IGL00773:Rprd2'
ID13863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rprd2
Ensembl Gene ENSMUSG00000028106
Gene Nameregulation of nuclear pre-mRNA domain containing 2
Synonyms6720469I21Rik, 2810036A19Rik, 4930535B03Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.579) question?
Stock #IGL00773
Quality Score
Status
Chromosome3
Chromosomal Location95760341-95818863 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 95765109 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 994 (F994Y)
Ref Sequence ENSEMBL: ENSMUSP00000088297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197501]
Predicted Effect probably damaging
Transcript: ENSMUST00000090791
AA Change: F994Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: F994Y

DomainStartEndE-ValueType
RPR 26 146 3.6e-29 SMART
Pfam:CREPT 210 351 9.3e-11 PFAM
low complexity region 431 465 N/A INTRINSIC
low complexity region 576 591 N/A INTRINSIC
low complexity region 612 633 N/A INTRINSIC
low complexity region 670 686 N/A INTRINSIC
low complexity region 777 793 N/A INTRINSIC
low complexity region 1159 1179 N/A INTRINSIC
low complexity region 1195 1208 N/A INTRINSIC
low complexity region 1230 1238 N/A INTRINSIC
low complexity region 1272 1295 N/A INTRINSIC
low complexity region 1300 1323 N/A INTRINSIC
low complexity region 1373 1409 N/A INTRINSIC
low complexity region 1446 1467 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197501
Predicted Effect unknown
Transcript: ENSMUST00000200164
AA Change: F910Y
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 114,048,113 probably benign Het
Aff1 C T 5: 103,784,077 S195F probably damaging Het
Atm G T 9: 53,522,144 H269N probably benign Het
Ccdc144b A G 3: 36,035,337 L146P probably damaging Het
Cdc25c A T 18: 34,747,241 S147T probably benign Het
Cdnf A G 2: 3,519,355 D57G possibly damaging Het
Cep170 T C 1: 176,755,399 D1138G probably damaging Het
Cfap70 A G 14: 20,447,534 S51P probably damaging Het
Csmd3 A G 15: 47,590,719 M3577T probably damaging Het
Cyb5rl C T 4: 107,084,296 A246V probably benign Het
Dcaf1 T A 9: 106,858,333 S827T probably benign Het
Epha3 T A 16: 63,566,684 Q862L probably damaging Het
Igsf10 A G 3: 59,331,539 V407A probably benign Het
Myh2 T C 11: 67,194,421 I1751T probably benign Het
Pcm1 T C 8: 41,274,277 L528P probably damaging Het
Pla2g7 T G 17: 43,602,871 I235S probably damaging Het
Plekhh2 C T 17: 84,606,868 T1233M probably benign Het
Ptpn21 C T 12: 98,688,313 M798I probably benign Het
Ptprz1 A G 6: 23,002,629 K1573E probably benign Het
Rassf6 C T 5: 90,604,140 V272M probably damaging Het
Slc13a1 C T 6: 24,118,017 M240I possibly damaging Het
Slc22a6 A T 19: 8,621,868 I288F probably benign Het
Slc6a3 T A 13: 73,544,741 I160N probably damaging Het
Slfn10-ps T A 11: 83,035,529 noncoding transcript Het
Snx14 A T 9: 88,394,539 D564E probably damaging Het
Tceanc T A X: 166,502,861 L179F probably benign Het
Tpm2 T C 4: 43,518,251 K251E probably damaging Het
Trpm2 T A 10: 77,949,214 R191* probably null Het
Trpm3 T A 19: 22,900,159 M602K possibly damaging Het
Zbtb21 A T 16: 97,952,320 D282E probably benign Het
Other mutations in Rprd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Rprd2 APN 3 95765379 missense possibly damaging 0.95
IGL00792:Rprd2 APN 3 95785104 missense probably benign 0.05
IGL01022:Rprd2 APN 3 95763754 nonsense probably null
IGL01121:Rprd2 APN 3 95776550 missense probably damaging 1.00
IGL01299:Rprd2 APN 3 95776547 missense probably damaging 1.00
IGL01387:Rprd2 APN 3 95765319 missense probably benign
IGL01414:Rprd2 APN 3 95765525 missense probably damaging 1.00
IGL02283:Rprd2 APN 3 95765503 missense probably damaging 0.98
IGL02336:Rprd2 APN 3 95787310 missense probably benign 0.17
R0131:Rprd2 UTSW 3 95774361 missense probably damaging 1.00
R0131:Rprd2 UTSW 3 95774361 missense probably damaging 1.00
R0132:Rprd2 UTSW 3 95774361 missense probably damaging 1.00
R0574:Rprd2 UTSW 3 95774357 missense possibly damaging 0.58
R0718:Rprd2 UTSW 3 95766387 missense probably benign 0.30
R0847:Rprd2 UTSW 3 95765413 missense probably benign 0.00
R0942:Rprd2 UTSW 3 95765418 missense probably damaging 1.00
R0943:Rprd2 UTSW 3 95784247 missense possibly damaging 0.88
R0980:Rprd2 UTSW 3 95765904 missense probably damaging 1.00
R1448:Rprd2 UTSW 3 95818576 missense possibly damaging 0.57
R1542:Rprd2 UTSW 3 95765676 missense possibly damaging 0.69
R1577:Rprd2 UTSW 3 95764735 missense probably damaging 1.00
R1598:Rprd2 UTSW 3 95818739 unclassified probably benign
R1640:Rprd2 UTSW 3 95763747 unclassified probably benign
R1670:Rprd2 UTSW 3 95764803 missense probably damaging 1.00
R2430:Rprd2 UTSW 3 95764795 nonsense probably null
R2966:Rprd2 UTSW 3 95766433 splice site probably null
R3612:Rprd2 UTSW 3 95764152 missense probably damaging 0.98
R3712:Rprd2 UTSW 3 95764560 missense probably damaging 0.97
R3890:Rprd2 UTSW 3 95765224 missense probably damaging 1.00
R4777:Rprd2 UTSW 3 95787374 missense probably benign 0.41
R4783:Rprd2 UTSW 3 95774333 missense probably benign 0.03
R4832:Rprd2 UTSW 3 95774171 missense probably damaging 1.00
R4928:Rprd2 UTSW 3 95764537 missense probably damaging 1.00
R4976:Rprd2 UTSW 3 95766349 missense probably damaging 1.00
R4989:Rprd2 UTSW 3 95765320 missense probably benign 0.03
R5134:Rprd2 UTSW 3 95765320 missense probably benign 0.03
R5244:Rprd2 UTSW 3 95790182 missense possibly damaging 0.80
R5314:Rprd2 UTSW 3 95764089 missense possibly damaging 0.53
R5579:Rprd2 UTSW 3 95785059 missense probably damaging 1.00
R5954:Rprd2 UTSW 3 95764863 missense probably damaging 1.00
R6016:Rprd2 UTSW 3 95787373 missense probably damaging 0.97
R6332:Rprd2 UTSW 3 95780441 missense probably damaging 0.99
R6403:Rprd2 UTSW 3 95766087 missense possibly damaging 0.77
R6415:Rprd2 UTSW 3 95774219 missense probably benign 0.00
R7064:Rprd2 UTSW 3 95765016 missense probably damaging 1.00
R7313:Rprd2 UTSW 3 95776710 missense probably damaging 1.00
R7496:Rprd2 UTSW 3 95765775 missense probably damaging 1.00
R7535:Rprd2 UTSW 3 95776587 missense probably damaging 0.96
R8716:Rprd2 UTSW 3 95776793 missense probably damaging 1.00
R8822:Rprd2 UTSW 3 95784301 missense probably damaging 1.00
R8891:Rprd2 UTSW 3 95764055 missense possibly damaging 0.85
R8922:Rprd2 UTSW 3 95780584 missense probably damaging 0.99
RF034:Rprd2 UTSW 3 95766320 small deletion probably benign
RF056:Rprd2 UTSW 3 95766319 small deletion probably benign
Posted On2012-12-06