Incidental Mutation 'IGL01299:Rprd2'
ID 75201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rprd2
Ensembl Gene ENSMUSG00000028106
Gene Name regulation of nuclear pre-mRNA domain containing 2
Synonyms 2810036A19Rik, 6720469I21Rik, 4930535B03Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.745) question?
Stock # IGL01299
Quality Score
Status
Chromosome 3
Chromosomal Location 95667653-95726175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95683859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 374 (S374L)
Ref Sequence ENSEMBL: ENSMUSP00000143240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197449]
AlphaFold Q6NXI6
Predicted Effect probably damaging
Transcript: ENSMUST00000090791
AA Change: S392L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: S392L

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 damaging
Transcript: ENSMUST00000197449
AA Change: S374L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: S374L

DomainStartEndE-ValueType
RPR 26 146 3.2e-32 SMART
coiled coil region 288 313 N/A INTRINSIC
low complexity region 314 325 N/A INTRINSIC
low complexity region 413 447 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199308
Predicted Effect probably damaging
Transcript: ENSMUST00000200164
AA Change: S308L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200428
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,248,743 (GRCm39) T2830I probably benign Het
Akap1 C T 11: 88,735,080 (GRCm39) probably null Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cdk12 C T 11: 98,101,272 (GRCm39) R377C unknown Het
Cox6b1 G A 7: 30,316,553 (GRCm39) T81I possibly damaging Het
Creb1 T C 1: 64,609,284 (GRCm39) probably benign Het
Cyp4f40 G T 17: 32,886,948 (GRCm39) A140S probably benign Het
Dus4l A G 12: 31,690,823 (GRCm39) M276T probably benign Het
Dync1h1 G T 12: 110,580,541 (GRCm39) R134L probably benign Het
Fmo2 A T 1: 162,705,599 (GRCm39) N413K probably benign Het
Gabrp T C 11: 33,504,476 (GRCm39) T280A probably damaging Het
Golph3l A G 3: 95,524,588 (GRCm39) T217A possibly damaging Het
Mtr T C 13: 12,240,536 (GRCm39) probably benign Het
Nbea T G 3: 55,598,315 (GRCm39) D2398A probably damaging Het
Or3a4 T A 11: 73,945,301 (GRCm39) I95F probably benign Het
Phyh T A 2: 4,935,604 (GRCm39) W193R probably null Het
Rab36 A G 10: 74,884,298 (GRCm39) Q82R probably damaging Het
Ranbp2 T C 10: 58,328,639 (GRCm39) V2846A probably damaging Het
Slc9a3 A G 13: 74,308,382 (GRCm39) R462G probably benign Het
Slitrk3 T C 3: 72,956,349 (GRCm39) N808D probably benign Het
Tbck A T 3: 132,430,638 (GRCm39) I345F probably damaging Het
Tor2a T A 2: 32,649,558 (GRCm39) V146D probably damaging Het
Trpc6 C A 9: 8,653,062 (GRCm39) Q623K probably damaging Het
Ube2q1 A G 3: 89,688,681 (GRCm39) S192G probably damaging Het
Vnn1 T A 10: 23,770,949 (GRCm39) L59Q probably damaging Het
Other mutations in Rprd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Rprd2 APN 3 95,672,691 (GRCm39) missense possibly damaging 0.95
IGL00773:Rprd2 APN 3 95,672,421 (GRCm39) missense probably damaging 1.00
IGL00792:Rprd2 APN 3 95,692,416 (GRCm39) missense probably benign 0.05
IGL01022:Rprd2 APN 3 95,671,066 (GRCm39) nonsense probably null
IGL01121:Rprd2 APN 3 95,683,862 (GRCm39) missense probably damaging 1.00
IGL01387:Rprd2 APN 3 95,672,631 (GRCm39) missense probably benign
IGL01414:Rprd2 APN 3 95,672,837 (GRCm39) missense probably damaging 1.00
IGL02283:Rprd2 APN 3 95,672,815 (GRCm39) missense probably damaging 0.98
IGL02336:Rprd2 APN 3 95,694,622 (GRCm39) missense probably benign 0.17
R0131:Rprd2 UTSW 3 95,681,673 (GRCm39) missense probably damaging 1.00
R0131:Rprd2 UTSW 3 95,681,673 (GRCm39) missense probably damaging 1.00
R0132:Rprd2 UTSW 3 95,681,673 (GRCm39) missense probably damaging 1.00
R0574:Rprd2 UTSW 3 95,681,669 (GRCm39) missense possibly damaging 0.58
R0718:Rprd2 UTSW 3 95,673,699 (GRCm39) missense probably benign 0.30
R0847:Rprd2 UTSW 3 95,672,725 (GRCm39) missense probably benign 0.00
R0942:Rprd2 UTSW 3 95,672,730 (GRCm39) missense probably damaging 1.00
R0943:Rprd2 UTSW 3 95,691,559 (GRCm39) missense possibly damaging 0.88
R0980:Rprd2 UTSW 3 95,673,216 (GRCm39) missense probably damaging 1.00
R1448:Rprd2 UTSW 3 95,725,888 (GRCm39) missense possibly damaging 0.57
R1542:Rprd2 UTSW 3 95,672,988 (GRCm39) missense possibly damaging 0.69
R1577:Rprd2 UTSW 3 95,672,047 (GRCm39) missense probably damaging 1.00
R1598:Rprd2 UTSW 3 95,726,051 (GRCm39) unclassified probably benign
R1640:Rprd2 UTSW 3 95,671,059 (GRCm39) unclassified probably benign
R1670:Rprd2 UTSW 3 95,672,115 (GRCm39) missense probably damaging 1.00
R2430:Rprd2 UTSW 3 95,672,107 (GRCm39) nonsense probably null
R2966:Rprd2 UTSW 3 95,673,745 (GRCm39) splice site probably null
R3612:Rprd2 UTSW 3 95,671,464 (GRCm39) missense probably damaging 0.98
R3712:Rprd2 UTSW 3 95,671,872 (GRCm39) missense probably damaging 0.97
R3890:Rprd2 UTSW 3 95,672,536 (GRCm39) missense probably damaging 1.00
R4777:Rprd2 UTSW 3 95,694,686 (GRCm39) missense probably benign 0.41
R4783:Rprd2 UTSW 3 95,681,645 (GRCm39) missense probably benign 0.03
R4832:Rprd2 UTSW 3 95,681,483 (GRCm39) missense probably damaging 1.00
R4928:Rprd2 UTSW 3 95,671,849 (GRCm39) missense probably damaging 1.00
R4976:Rprd2 UTSW 3 95,673,661 (GRCm39) missense probably damaging 1.00
R4989:Rprd2 UTSW 3 95,672,632 (GRCm39) missense probably benign 0.03
R5134:Rprd2 UTSW 3 95,672,632 (GRCm39) missense probably benign 0.03
R5244:Rprd2 UTSW 3 95,697,494 (GRCm39) missense possibly damaging 0.80
R5314:Rprd2 UTSW 3 95,671,401 (GRCm39) missense possibly damaging 0.53
R5579:Rprd2 UTSW 3 95,692,371 (GRCm39) missense probably damaging 1.00
R5954:Rprd2 UTSW 3 95,672,175 (GRCm39) missense probably damaging 1.00
R6016:Rprd2 UTSW 3 95,694,685 (GRCm39) missense probably damaging 0.97
R6332:Rprd2 UTSW 3 95,687,753 (GRCm39) missense probably damaging 0.99
R6403:Rprd2 UTSW 3 95,673,399 (GRCm39) missense possibly damaging 0.77
R6415:Rprd2 UTSW 3 95,681,531 (GRCm39) missense probably benign 0.00
R7064:Rprd2 UTSW 3 95,672,328 (GRCm39) missense probably damaging 1.00
R7313:Rprd2 UTSW 3 95,684,022 (GRCm39) missense probably damaging 1.00
R7496:Rprd2 UTSW 3 95,673,087 (GRCm39) missense probably damaging 1.00
R7535:Rprd2 UTSW 3 95,683,899 (GRCm39) missense probably damaging 0.96
R8716:Rprd2 UTSW 3 95,684,105 (GRCm39) missense probably damaging 1.00
R8822:Rprd2 UTSW 3 95,691,613 (GRCm39) missense probably damaging 1.00
R8891:Rprd2 UTSW 3 95,671,367 (GRCm39) missense possibly damaging 0.85
R8922:Rprd2 UTSW 3 95,687,896 (GRCm39) missense probably damaging 0.99
R9030:Rprd2 UTSW 3 95,691,622 (GRCm39) missense probably benign 0.15
R9623:Rprd2 UTSW 3 95,679,505 (GRCm39) missense probably benign 0.30
RF034:Rprd2 UTSW 3 95,673,632 (GRCm39) small deletion probably benign
RF056:Rprd2 UTSW 3 95,673,631 (GRCm39) small deletion probably benign
Posted On 2013-10-07