Incidental Mutation 'R4082:Prorp'
ID 316950
Institutional Source Beutler Lab
Gene Symbol Prorp
Ensembl Gene ENSMUSG00000021023
Gene Name protein only RNase P catalytic subunit
Synonyms Mrpp3, 1110008L16Rik
MMRRC Submission 041624-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R4082 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55349422-55429276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55351398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 236 (V236F)
Ref Sequence ENSEMBL: ENSMUSP00000139252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021410] [ENSMUST00000021411] [ENSMUST00000183475] [ENSMUST00000183654] [ENSMUST00000184766] [ENSMUST00000184980]
AlphaFold Q8JZY4
Predicted Effect probably benign
Transcript: ENSMUST00000021410
SMART Domains Protein: ENSMUSP00000021410
Gene: ENSMUSG00000021022

DomainStartEndE-ValueType
PDB:4I5K|B 188 437 1e-25 PDB
SCOP:d1dgua_ 258 413 4e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000021411
AA Change: V236F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
AA Change: V236F

DomainStartEndE-ValueType
Pfam:PRORP 339 575 4.8e-106 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183475
AA Change: V236F

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
AA Change: V236F

DomainStartEndE-ValueType
low complexity region 410 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183654
SMART Domains Protein: ENSMUSP00000138821
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
Pfam:RNase_Zc3h12a 33 185 8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184249
Predicted Effect possibly damaging
Transcript: ENSMUST00000184766
AA Change: V236F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
AA Change: V236F

DomainStartEndE-ValueType
PDB:4G26|A 153 581 1e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000184980
SMART Domains Protein: ENSMUSP00000139123
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
low complexity region 113 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218116
Meta Mutation Damage Score 0.1603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T G 19: 24,043,366 (GRCm39) noncoding transcript Het
a A T 2: 154,887,678 (GRCm39) D46V probably damaging Het
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Abca12 G T 1: 71,306,622 (GRCm39) T2028K possibly damaging Het
Abt1 T C 13: 23,606,316 (GRCm39) T213A probably benign Het
Adcy1 A C 11: 7,014,117 (GRCm39) Y173S probably damaging Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Akr1d1 G A 6: 37,534,424 (GRCm39) V193M probably damaging Het
Cars1 C T 7: 143,123,234 (GRCm39) E461K probably damaging Het
Ccdc80 T C 16: 44,943,290 (GRCm39) L800P probably damaging Het
Ccl22 A G 8: 95,473,536 (GRCm39) Y27C probably damaging Het
Cdc123 G A 2: 5,815,566 (GRCm39) probably benign Het
Cldn11 A T 3: 31,217,278 (GRCm39) I149F probably benign Het
Col14a1 T C 15: 55,300,429 (GRCm39) Y986H unknown Het
Col6a3 G A 1: 90,749,605 (GRCm39) L410F probably damaging Het
Crocc T C 4: 140,761,282 (GRCm39) probably null Het
Cubn A G 2: 13,433,374 (GRCm39) probably benign Het
Cwc25 G T 11: 97,644,744 (GRCm39) Q205K probably benign Het
Cyp2e1 T C 7: 140,350,991 (GRCm39) I321T possibly damaging Het
Eps8l1 T A 7: 4,473,797 (GRCm39) probably null Het
Fasl C T 1: 161,609,420 (GRCm39) V189M probably damaging Het
Fbxw5 T C 2: 25,394,643 (GRCm39) probably null Het
Flg2 A C 3: 93,110,828 (GRCm39) E952A unknown Het
Gpd1l A T 9: 114,746,146 (GRCm39) L90Q probably damaging Het
Grik4 G T 9: 42,509,180 (GRCm39) F414L probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl3 C T 13: 58,166,611 (GRCm39) G407S probably null Het
Lmbr1 T C 5: 29,463,753 (GRCm39) E157G probably damaging Het
Lrp2 T A 2: 69,343,617 (GRCm39) H914L probably damaging Het
Mrpl20 A T 4: 155,892,970 (GRCm39) D67V probably damaging Het
Myo15a A G 11: 60,378,022 (GRCm39) T1346A possibly damaging Het
Naip5 A T 13: 100,382,338 (GRCm39) C124S probably damaging Het
Or10ag2 T A 2: 87,248,801 (GRCm39) Y134* probably null Het
Or13n4 T C 7: 106,423,245 (GRCm39) T163A possibly damaging Het
Or52u1 T A 7: 104,237,830 (GRCm39) V290D probably damaging Het
Osbp A G 19: 11,956,030 (GRCm39) D385G probably benign Het
Paip1 G A 13: 119,593,540 (GRCm39) D460N probably damaging Het
Pde3b T C 7: 114,093,823 (GRCm39) S356P probably benign Het
Pms2 A G 5: 143,867,837 (GRCm39) M814V probably damaging Het
Polg C A 7: 79,114,576 (GRCm39) K128N probably damaging Het
Polk G T 13: 96,620,181 (GRCm39) T694K probably benign Het
Pom121 T C 5: 135,417,491 (GRCm39) K342R unknown Het
Pou5f2 T C 13: 78,174,024 (GRCm39) L322P probably damaging Het
Ptpn6 T C 6: 124,705,382 (GRCm39) D183G probably damaging Het
Pygb G A 2: 150,668,391 (GRCm39) probably null Het
Ralgds C T 2: 28,442,283 (GRCm39) probably benign Het
Ret T C 6: 118,130,927 (GRCm39) T1079A possibly damaging Het
Rspo2 A C 15: 42,885,933 (GRCm39) V241G probably benign Het
Smg1 T A 7: 117,759,469 (GRCm39) probably benign Het
Snph T C 2: 151,435,722 (GRCm39) D402G probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Sufu A G 19: 46,413,541 (GRCm39) M141V probably damaging Het
Sytl2 T A 7: 90,057,635 (GRCm39) V831D possibly damaging Het
Tc2n T C 12: 101,617,414 (GRCm39) E335G possibly damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmcc1 T A 6: 116,020,441 (GRCm39) H118L probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vmn1r209 A C 13: 22,989,785 (GRCm39) L302V probably null Het
Vmn2r117 C T 17: 23,679,080 (GRCm39) V715I probably benign Het
Vopp1 A T 6: 57,766,964 (GRCm39) Y37* probably null Het
Xrn1 A G 9: 95,863,973 (GRCm39) T528A probably benign Het
Zfhx2 T C 14: 55,302,662 (GRCm39) D1774G probably benign Het
Zfp955b T A 17: 33,521,129 (GRCm39) D199E probably benign Het
Zp2 T C 7: 119,734,475 (GRCm39) S525G probably benign Het
Other mutations in Prorp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Prorp APN 12 55,355,660 (GRCm39) splice site probably benign
IGL01932:Prorp APN 12 55,350,910 (GRCm39) missense probably benign
IGL03030:Prorp APN 12 55,351,429 (GRCm39) missense probably damaging 1.00
R0102:Prorp UTSW 12 55,429,082 (GRCm39) missense probably benign 0.37
R0892:Prorp UTSW 12 55,429,033 (GRCm39) splice site probably null
R1479:Prorp UTSW 12 55,426,172 (GRCm39) missense probably damaging 1.00
R1510:Prorp UTSW 12 55,350,997 (GRCm39) missense probably benign 0.21
R1845:Prorp UTSW 12 55,351,117 (GRCm39) missense possibly damaging 0.58
R1992:Prorp UTSW 12 55,384,991 (GRCm39) missense probably damaging 1.00
R2307:Prorp UTSW 12 55,351,101 (GRCm39) missense probably damaging 1.00
R4080:Prorp UTSW 12 55,351,398 (GRCm39) missense possibly damaging 0.88
R4081:Prorp UTSW 12 55,351,398 (GRCm39) missense possibly damaging 0.88
R5205:Prorp UTSW 12 55,351,226 (GRCm39) nonsense probably null
R5590:Prorp UTSW 12 55,351,257 (GRCm39) missense possibly damaging 0.89
R5940:Prorp UTSW 12 55,351,659 (GRCm39) missense probably damaging 1.00
R5988:Prorp UTSW 12 55,424,002 (GRCm39) missense probably damaging 1.00
R6147:Prorp UTSW 12 55,426,093 (GRCm39) missense probably damaging 0.99
R7208:Prorp UTSW 12 55,355,430 (GRCm39) splice site probably null
R7220:Prorp UTSW 12 55,351,200 (GRCm39) missense possibly damaging 0.79
R7304:Prorp UTSW 12 55,351,429 (GRCm39) missense probably damaging 1.00
R7316:Prorp UTSW 12 55,351,429 (GRCm39) missense probably damaging 1.00
R7502:Prorp UTSW 12 55,351,206 (GRCm39) missense probably damaging 1.00
R7908:Prorp UTSW 12 55,426,250 (GRCm39) missense possibly damaging 0.56
R7967:Prorp UTSW 12 55,350,979 (GRCm39) missense probably benign
R9030:Prorp UTSW 12 55,426,192 (GRCm39) missense probably damaging 1.00
R9125:Prorp UTSW 12 55,355,611 (GRCm39) missense possibly damaging 0.77
R9135:Prorp UTSW 12 55,426,189 (GRCm39) missense probably damaging 1.00
R9136:Prorp UTSW 12 55,350,727 (GRCm39) missense probably benign
R9321:Prorp UTSW 12 55,351,434 (GRCm39) missense possibly damaging 0.94
R9456:Prorp UTSW 12 55,385,015 (GRCm39) missense probably damaging 1.00
R9621:Prorp UTSW 12 55,429,042 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAACAATGGCATCGTGGGC -3'
(R):5'- CAGGAGTTTGTCTGAATAGTGATC -3'

Sequencing Primer
(F):5'- CGTGGGCTATAATCTACTCGTCAAG -3'
(R):5'- AGTGATCATCATTTATGTCTTTGCC -3'
Posted On 2015-05-15