Incidental Mutation 'R2307:Prorp'
ID 244647
Institutional Source Beutler Lab
Gene Symbol Prorp
Ensembl Gene ENSMUSG00000021023
Gene Name protein only RNase P catalytic subunit
Synonyms Mrpp3, 1110008L16Rik
MMRRC Submission 040306-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R2307 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 55349422-55429276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55351101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 137 (F137L)
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 probably damaging
Transcript: ENSMUST00000021411
AA Change: F137L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
AA Change: F137L

DomainStartEndE-ValueType
Pfam:PRORP 339 575 4.8e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183475
AA Change: F137L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
AA Change: F137L

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 probably damaging
Transcript: ENSMUST00000184766
AA Change: F137L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
AA Change: F137L

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T C 12: 84,122,375 (GRCm39) F320L possibly damaging Het
Alox12e T C 11: 70,212,087 (GRCm39) K170R probably damaging Het
Ano2 T C 6: 125,969,849 (GRCm39) S722P probably benign Het
Cep192 A G 18: 67,946,970 (GRCm39) Y215C probably benign Het
Ces2g A G 8: 105,695,044 (GRCm39) N555S probably benign Het
Cfap58 C T 19: 47,950,925 (GRCm39) Q429* probably null Het
Clcnkb A G 4: 141,139,640 (GRCm39) S121P probably damaging Het
Cltb T A 13: 54,746,564 (GRCm39) E67D probably damaging Het
Ddhd1 A T 14: 45,846,447 (GRCm39) L581Q probably damaging Het
Dnajc3 T C 14: 119,190,633 (GRCm39) probably null Het
Fgf14 T A 14: 124,221,234 (GRCm39) N190I probably damaging Het
Galnt17 T G 5: 130,929,460 (GRCm39) Y449S probably damaging Het
Grin3a C T 4: 49,793,033 (GRCm39) probably null Het
Gxylt2 A G 6: 100,764,173 (GRCm39) N286S probably damaging Het
H2-K2 A G 17: 34,216,113 (GRCm39) V120A probably benign Het
Inpp5f T C 7: 128,296,034 (GRCm39) V168A probably damaging Het
Kif1a G T 1: 93,006,491 (GRCm39) H59N probably damaging Het
Krt24 T C 11: 99,175,456 (GRCm39) Q193R possibly damaging Het
Krtap5-4 C A 7: 141,857,351 (GRCm39) S7* probably null Het
Ltn1 A G 16: 87,229,312 (GRCm39) probably null Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mep1b A T 18: 21,221,632 (GRCm39) D194V probably damaging Het
Mettl25b A T 3: 87,834,162 (GRCm39) M171K possibly damaging Het
Orc3 C T 4: 34,586,503 (GRCm39) V382M probably damaging Het
Pclo T A 5: 14,728,665 (GRCm39) probably benign Het
Pcolce T C 5: 137,607,356 (GRCm39) H45R probably damaging Het
Prf1 T C 10: 61,138,942 (GRCm39) V300A possibly damaging Het
Prss53 T C 7: 127,490,037 (GRCm39) I18V probably benign Het
Rnase2b A G 14: 51,400,188 (GRCm39) T90A probably benign Het
Rpap1 G A 2: 119,614,247 (GRCm39) P50L probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec16b G A 1: 157,363,062 (GRCm39) V298I probably damaging Het
Smarcd3 C T 5: 24,800,746 (GRCm39) R156Q probably damaging Het
St6galnac2 C T 11: 116,572,731 (GRCm39) A242T probably damaging Het
Syce1l T C 8: 114,369,937 (GRCm39) probably null Het
Tcam1 T C 11: 106,174,940 (GRCm39) C132R probably damaging Het
Trpa1 T C 1: 14,982,605 (GRCm39) I84V probably benign Het
Ttn G A 2: 76,717,342 (GRCm39) R455* probably null Het
Ubl5 T A 9: 20,557,876 (GRCm39) probably benign Het
Ubr2 T A 17: 47,277,141 (GRCm39) K779* probably null Het
Ugt1a10 A G 1: 87,983,669 (GRCm39) I156V probably benign Het
Unc13b A G 4: 43,239,854 (GRCm39) T3513A probably damaging Het
Vmn1r20 C T 6: 57,409,121 (GRCm39) T149I probably benign Het
Zfp804a T A 2: 82,087,201 (GRCm39) D343E 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
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
R4082: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'- CTCATTACTTCGCTGCTGGAG -3'
(R):5'- TCCCCGGATGAGAAGGGTATAAC -3'

Sequencing Primer
(F):5'- GCAGCTAAGAAGAGGTCCCAC -3'
(R):5'- CAGATTCTAAACTCTTGTACTTGGC -3'
Posted On 2014-10-30