Incidental Mutation 'IGL00766:Rprd2'
ID13864
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: 0.699) question?
Stock #IGL00766
Quality Score
Status
Chromosome3
Chromosomal Location95760341-95818863 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95765379 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 904 (V904A)
Ref Sequence ENSEMBL: ENSMUSP00000088297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090791]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090791
AA Change: V904A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: V904A

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 unknown
Transcript: ENSMUST00000200164
AA Change: V820A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,252,164 Q2829L unknown Het
Adgrl3 T A 5: 81,794,568 D1379E probably damaging Het
Akap13 A G 7: 75,704,512 T1794A probably damaging Het
Ano2 A T 6: 126,013,253 D779V probably damaging Het
Ap3b1 G T 13: 94,542,884 probably benign Het
Arfgef1 A G 1: 10,199,787 V379A probably benign Het
Arhgef10 A G 8: 14,975,006 Y398C probably damaging Het
Arid2 C T 15: 96,370,405 R800C probably benign Het
Ccdc88a T A 11: 29,501,046 H306Q probably damaging Het
Cckar C A 5: 53,700,036 R344L probably damaging Het
Egfem1 A G 3: 29,657,153 I237V possibly damaging Het
Erlec1 T A 11: 30,950,623 K143* probably null Het
Glyat T G 19: 12,651,262 D140E probably benign Het
Gm4907 C A X: 23,906,599 A113E probably benign Het
Grhl2 T C 15: 37,336,301 F50L probably damaging Het
Havcr2 T C 11: 46,469,546 V151A probably damaging Het
Herc1 A G 9: 66,450,741 Y2368C probably damaging Het
Ift80 A T 3: 68,914,653 Y686* probably null Het
Itga7 G T 10: 128,941,854 D235Y possibly damaging Het
Kctd3 C T 1: 188,995,776 V199I probably benign Het
Mettl25 A G 10: 105,779,582 probably benign Het
Myoz2 G A 3: 123,016,544 probably benign Het
Nepro C T 16: 44,729,305 Q43* probably null Het
Ophn1 T C X: 98,803,114 D74G probably damaging Het
Plau A G 14: 20,838,567 N84S probably benign Het
Satl1 T C X: 112,405,769 K330E possibly damaging Het
Sis C T 3: 72,907,237 probably benign Het
Slc5a5 A C 8: 70,888,537 I386S probably damaging Het
Slco1c1 T C 6: 141,547,883 Y264H probably damaging Het
Sulf1 A C 1: 12,820,463 D375A probably damaging Het
Tgfbi A G 13: 56,630,595 D393G probably benign Het
Trim59 A C 3: 69,037,379 D209E probably benign Het
Ubqln3 G T 7: 104,142,824 Q20K probably benign Het
Ubr4 A G 4: 139,440,766 D2808G probably damaging Het
Other mutations in Rprd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Rprd2 APN 3 95765109 missense probably damaging 1.00
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