Incidental Mutation 'R7535:Rprd2'
ID 583491
Institutional Source Beutler Lab
Gene Symbol Rprd2
Ensembl Gene ENSMUSG00000028106
Gene Name regulation of nuclear pre-mRNA domain containing 2
Synonyms 2810036A19Rik, 6720469I21Rik, 4930535B03Rik
MMRRC Submission 045607-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.733) question?
Stock # R7535 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95667653-95726175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95683899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 379 (P379S)
Ref Sequence ENSEMBL: ENSMUSP00000088297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197449]
AlphaFold Q6NXI6
Predicted Effect probably damaging
Transcript: ENSMUST00000090791
AA Change: P379S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: P379S

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 possibly damaging
Transcript: ENSMUST00000197449
AA Change: P361S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: P361S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,837,463 (GRCm39) L449Q probably benign Het
Agtpbp1 T C 13: 59,652,067 (GRCm39) T415A probably benign Het
Akt3 A T 1: 176,924,600 (GRCm39) V165D probably damaging Het
Cbr2 T A 11: 120,620,628 (GRCm39) I219F probably damaging Het
Cdh20 T A 1: 104,902,768 (GRCm39) D486E probably damaging Het
Cenpe A G 3: 134,949,523 (GRCm39) S103G possibly damaging Het
Chd4 T A 6: 125,105,836 (GRCm39) S1818T probably benign Het
Chst5 T C 8: 112,616,795 (GRCm39) D275G probably damaging Het
Clca3a1 A G 3: 144,724,328 (GRCm39) I244T probably damaging Het
Cyp2c54 A G 19: 40,058,716 (GRCm39) Y239H probably benign Het
Czib T G 4: 107,752,097 (GRCm39) S159A probably benign Het
Ddx25 A G 9: 35,454,951 (GRCm39) F446L possibly damaging Het
Dgkb T C 12: 38,186,646 (GRCm39) L265P probably damaging Het
Dis3 A G 14: 99,327,415 (GRCm39) S363P probably benign Het
Disp3 T C 4: 148,327,323 (GRCm39) E1187G probably damaging Het
Dop1b G A 16: 93,603,249 (GRCm39) G2061R probably damaging Het
Dsp T C 13: 38,376,765 (GRCm39) S1517P probably benign Het
Epg5 T A 18: 78,076,141 (GRCm39) V2513E probably benign Het
Fryl T A 5: 73,255,539 (GRCm39) T831S probably benign Het
Gm6309 A T 5: 146,105,100 (GRCm39) V271D probably damaging Het
H2-M2 G T 17: 37,793,528 (GRCm39) S159R probably benign Het
Helq A G 5: 100,937,999 (GRCm39) probably null Het
Herc1 G C 9: 66,382,135 (GRCm39) D3621H probably damaging Het
Hsd11b2 A T 8: 106,245,755 (GRCm39) I87F probably damaging Het
Ice2 A G 9: 69,339,360 (GRCm39) N959S probably damaging Het
Ifi47 T A 11: 48,987,452 (GRCm39) D406E probably damaging Het
Ifit3 T G 19: 34,565,280 (GRCm39) S275R probably damaging Het
Insl5 C A 4: 102,875,395 (GRCm39) K118N probably damaging Het
Irf7 A T 7: 140,844,550 (GRCm39) F158I probably benign Het
Kat2b T C 17: 53,931,431 (GRCm39) L143P probably damaging Het
Klk1b1 A T 7: 43,619,746 (GRCm39) N102Y probably damaging Het
Krt13 C T 11: 100,008,824 (GRCm39) G410S unknown Het
Larp6 A T 9: 60,631,437 (GRCm39) T70S probably benign Het
Lrrc37a T C 11: 103,392,683 (GRCm39) E914G possibly damaging Het
Mindy4 T C 6: 55,274,738 (GRCm39) probably null Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Myom2 A G 8: 15,167,679 (GRCm39) Y1088C probably damaging Het
Mysm1 T C 4: 94,840,452 (GRCm39) N655D probably benign Het
Nbas T A 12: 13,329,390 (GRCm39) S112T probably damaging Het
Neb A G 2: 52,055,115 (GRCm39) probably null Het
Noxred1 G A 12: 87,280,206 (GRCm39) A42V probably benign Het
Olfm5 G A 7: 103,803,444 (GRCm39) P340S possibly damaging Het
Or11h4 G A 14: 50,974,122 (GRCm39) P166S probably benign Het
Or2l5 T C 16: 19,333,544 (GRCm39) T281A probably damaging Het
Or5al5 A G 2: 85,961,608 (GRCm39) V133A probably benign Het
Or5m8 T A 2: 85,822,245 (GRCm39) V28E probably benign Het
Or9i1b A G 19: 13,896,449 (GRCm39) K22E probably benign Het
Pccb A T 9: 100,876,615 (GRCm39) probably null Het
Pnn T A 12: 59,118,923 (GRCm39) V502E probably benign Het
Pole2 A T 12: 69,269,203 (GRCm39) I98K probably benign Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rasgrp4 A G 7: 28,838,484 (GRCm39) K111E probably benign Het
Rbbp6 G A 7: 122,589,366 (GRCm39) M351I probably benign Het
Rgs19 T G 2: 181,333,101 (GRCm39) H53P probably damaging Het
Rin1 A T 19: 5,102,564 (GRCm39) T369S probably benign Het
Rnaset2b G A 17: 7,259,138 (GRCm39) E135K possibly damaging Het
Sbno1 A G 5: 124,551,342 (GRCm39) L47P possibly damaging Het
Slamf6 T A 1: 171,747,325 (GRCm39) L29Q unknown Het
Slc16a14 T C 1: 84,890,843 (GRCm39) Y154C probably damaging Het
Slc22a29 A G 19: 8,147,342 (GRCm39) F340S probably damaging Het
Slc6a4 T G 11: 76,905,976 (GRCm39) I259S possibly damaging Het
Smarca4 G A 9: 21,558,921 (GRCm39) V651I possibly damaging Het
Susd5 C T 9: 113,893,108 (GRCm39) A62V possibly damaging Het
Syt1 T A 10: 108,463,283 (GRCm39) probably null Het
Taf10 T C 7: 105,390,117 (GRCm39) I218T probably benign Het
Tas1r1 C A 4: 152,112,819 (GRCm39) V745F probably benign Het
Tas2r125 C A 6: 132,887,287 (GRCm39) T225K probably damaging Het
Tcp11l2 G T 10: 84,430,523 (GRCm39) R216L possibly damaging Het
Tnks1bp1 C T 2: 84,893,624 (GRCm39) Q1184* probably null Het
Treml2 T A 17: 48,609,847 (GRCm39) V93D probably damaging Het
Trim11 G A 11: 58,872,891 (GRCm39) E192K probably damaging Het
Trim43a A G 9: 88,470,201 (GRCm39) K336E probably damaging Het
Tspan33 T A 6: 29,717,588 (GRCm39) I268N possibly damaging Het
Tstd2 C T 4: 46,116,960 (GRCm39) C458Y probably damaging Het
Ttc6 A G 12: 57,623,305 (GRCm39) S235G probably benign Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Usp36 A T 11: 118,152,872 (GRCm39) S1084T possibly damaging Het
Vps39 T A 2: 120,155,176 (GRCm39) N550I probably damaging Het
Wdr47 A G 3: 108,537,027 (GRCm39) I572V probably benign Het
Zfp112 A T 7: 23,826,135 (GRCm39) Y705F probably damaging Het
Zfp282 A G 6: 47,881,878 (GRCm39) T522A probably benign Het
Zfp292 T C 4: 34,811,487 (GRCm39) D524G probably benign Het
Zfp90 A T 8: 107,150,900 (GRCm39) K204N possibly damaging Het
Zmym2 T C 14: 57,194,536 (GRCm39) S1265P 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
IGL01299:Rprd2 APN 3 95,683,859 (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
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
Predicted Primers PCR Primer
(F):5'- ATTTCTGAGCACTGGCACACTG -3'
(R):5'- TAGGCTTACAAAACCTTCGCTAAC -3'

Sequencing Primer
(F):5'- GGTCTCCAGCGTGAGGAAGAC -3'
(R):5'- TCGCTAACCGAGTAAACAACTTAAAG -3'
Posted On 2019-10-17