Incidental Mutation 'R6147:Prorp'
ID 488968
Institutional Source Beutler Lab
Gene Symbol Prorp
Ensembl Gene ENSMUSG00000021023
Gene Name protein only RNase P catalytic subunit
Synonyms Mrpp3, 1110008L16Rik
MMRRC Submission 044294-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R6147 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 55349422-55429276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55426093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 168 (Y168C)
Ref Sequence ENSEMBL: ENSMUSP00000139123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021411] [ENSMUST00000163070] [ENSMUST00000183475] [ENSMUST00000183654] [ENSMUST00000184766] [ENSMUST00000184980]
AlphaFold Q8JZY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000021411
AA Change: Y481C

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
AA Change: Y481C

DomainStartEndE-ValueType
Pfam:PRORP 339 575 4.8e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163070
SMART Domains Protein: ENSMUSP00000124781
Gene: ENSMUSG00000021024

DomainStartEndE-ValueType
Pfam:Proteasome 13 201 1.5e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183475
AA Change: Y465C

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
AA Change: Y465C

DomainStartEndE-ValueType
low complexity region 410 424 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183654
AA Change: Y112C

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138821
Gene: ENSMUSG00000021023
AA Change: Y112C

DomainStartEndE-ValueType
Pfam:RNase_Zc3h12a 33 185 8e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000184766
AA Change: Y481C

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
AA Change: Y481C

DomainStartEndE-ValueType
PDB:4G26|A 153 581 1e-9 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000184980
AA Change: Y168C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139123
Gene: ENSMUSG00000021023
AA Change: Y168C

DomainStartEndE-ValueType
low complexity region 113 127 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 92.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,657,157 (GRCm39) probably benign Het
Acsf3 T A 8: 123,508,213 (GRCm39) D236E probably damaging Het
Aqp1 G T 6: 55,313,595 (GRCm39) E40D probably benign Het
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Arfip1 A G 3: 84,436,485 (GRCm39) V97A probably benign Het
Atp6v1b2 T A 8: 69,555,134 (GRCm39) Y165* probably null Het
Bclaf1 T A 10: 20,199,171 (GRCm39) D189E possibly damaging Het
Camsap2 G A 1: 136,273,138 (GRCm39) T13M probably damaging Het
Cblif G A 19: 11,724,936 (GRCm39) probably benign Het
Cntn5 T A 9: 10,012,894 (GRCm39) Y297F probably damaging Het
Cntnap5b G A 1: 99,978,506 (GRCm39) C174Y probably damaging Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Comtd1 C A 14: 21,898,883 (GRCm39) A20S probably damaging Het
Cspg4 A T 9: 56,796,056 (GRCm39) R1264W probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dlgap2 T A 8: 14,777,294 (GRCm39) C180S probably benign Het
Ednra C T 8: 78,393,951 (GRCm39) probably benign Het
Efcab3 T C 11: 104,858,566 (GRCm39) V3875A unknown Het
Ephb6 A T 6: 41,593,715 (GRCm39) S533C probably damaging Het
Fndc1 A T 17: 7,972,594 (GRCm39) probably null Het
Gm12185 A G 11: 48,806,717 (GRCm39) I158T probably benign Het
Gm14325 A T 2: 177,474,600 (GRCm39) C161S probably damaging Het
Ighv9-1 T A 12: 114,057,840 (GRCm39) Q20L probably damaging Het
Khnyn G C 14: 56,125,060 (GRCm39) S438T probably damaging Het
Krt9 T C 11: 100,079,665 (GRCm39) S576G unknown Het
Lrriq4 A T 3: 30,713,228 (GRCm39) N443I probably damaging Het
Luzp1 A G 4: 136,268,374 (GRCm39) Y199C probably damaging Het
Map2k3 T A 11: 60,840,776 (GRCm39) Y268* probably null Het
Men1 T A 19: 6,387,272 (GRCm39) D248E probably damaging Het
Mfsd4b2 A T 10: 39,797,573 (GRCm39) C261S probably benign Het
Mpeg1 T G 19: 12,440,258 (GRCm39) I572S probably damaging Het
Mrgprb2 A G 7: 48,202,113 (GRCm39) V204A possibly damaging Het
Mycbp2 A T 14: 103,392,945 (GRCm39) C805* probably null Het
Nphs2 A T 1: 156,146,296 (GRCm39) K91* probably null Het
Obox3 A G 7: 15,359,926 (GRCm39) S248P probably damaging Het
Or12d17 T C 17: 37,777,430 (GRCm39) I111T probably benign Het
Or5w19 C T 2: 87,699,061 (GRCm39) T242I probably benign Het
Or8k22 A T 2: 86,162,844 (GRCm39) N285K probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pan3 T C 5: 147,485,093 (GRCm39) probably benign Het
Pate10 A G 9: 35,653,528 (GRCm39) T111A possibly damaging Het
Pate10 A T 9: 35,653,406 (GRCm39) Y70F possibly damaging Het
Pcdhb5 T A 18: 37,453,779 (GRCm39) L53Q probably damaging Het
Pcdhb9 G T 18: 37,535,494 (GRCm39) R496L possibly damaging Het
Peg10 C T 6: 4,754,499 (GRCm39) probably benign Het
Plce1 A G 19: 38,690,481 (GRCm39) K722E probably damaging Het
Plch1 A G 3: 63,630,302 (GRCm39) S489P probably damaging Het
Plekhg3 T C 12: 76,611,985 (GRCm39) V362A probably damaging Het
Radil G A 5: 142,483,695 (GRCm39) H264Y probably benign Het
Ranbp2 C A 10: 58,315,250 (GRCm39) T1990K probably damaging Het
Rnf207 T C 4: 152,400,112 (GRCm39) D192G probably damaging Het
Ryr1 A T 7: 28,785,339 (GRCm39) F1784Y possibly damaging Het
Set T A 2: 29,956,836 (GRCm39) S2T probably benign Het
Slc26a2 T A 18: 61,334,757 (GRCm39) Y232F probably damaging Het
Sntb1 T A 15: 55,511,406 (GRCm39) M393L probably benign Het
Stx16 A G 2: 173,932,480 (GRCm39) T18A probably damaging Het
Stxbp5 A T 10: 9,684,216 (GRCm39) S585T possibly damaging Het
Sult2a7 T C 7: 14,199,088 (GRCm39) E313G probably damaging Het
Tbck A G 3: 132,400,207 (GRCm39) K86R probably benign Het
Tom1 A T 8: 75,781,320 (GRCm39) Q255L possibly damaging Het
Trbv4 A G 6: 41,036,637 (GRCm39) Y54C probably damaging Het
Trim34a A T 7: 103,910,398 (GRCm39) Q400L probably damaging Het
Trim42 G T 9: 97,245,382 (GRCm39) H473N probably benign Het
Tsbp1 T C 17: 34,637,897 (GRCm39) S31P possibly damaging Het
Tshr T A 12: 91,505,009 (GRCm39) M649K possibly damaging Het
Vmn2r11 C T 5: 109,202,700 (GRCm39) V126M probably benign Het
Vps13b T A 15: 35,930,177 (GRCm39) H3971Q probably benign Het
Wdr75 T A 1: 45,858,698 (GRCm39) N622K probably benign Het
Wdr93 A T 7: 79,408,245 (GRCm39) Q242L 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
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
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'- CAGCTTTTCACTGCATTTTAGAGAG -3'
(R):5'- CAACGGTCTCTTCTTCAGGC -3'

Sequencing Primer
(F):5'- CACTGCATTTTAGAGAGTGTCACC -3'
(R):5'- GTCTGTTAGCGTCACTTAGAGAACAG -3'
Posted On 2017-10-10