Incidental Mutation 'IGL01932:Prorp'
ID 180450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prorp
Ensembl Gene ENSMUSG00000021023
Gene Name protein only RNase P catalytic subunit
Synonyms Mrpp3, 1110008L16Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # IGL01932
Quality Score
Status
Chromosome 12
Chromosomal Location 55349422-55429276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55350910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 73 (N73S)
Ref Sequence ENSEMBL: ENSMUSP00000139204 (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 benign
Transcript: ENSMUST00000021411
AA Change: N73S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
AA Change: N73S

DomainStartEndE-ValueType
Pfam:PRORP 339 575 4.8e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183475
AA Change: N73S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
AA Change: N73S

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 benign
Transcript: ENSMUST00000184766
AA Change: N73S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
AA Change: N73S

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,050,565 (GRCm39) probably benign Het
Adipor2 G A 6: 119,338,825 (GRCm39) H143Y probably damaging Het
Ankar A G 1: 72,738,146 (GRCm39) I12T probably benign Het
Ankdd1a C T 9: 65,414,893 (GRCm39) probably benign Het
Cadps A G 14: 12,373,609 (GRCm38) probably benign Het
Cdh22 G A 2: 165,012,728 (GRCm39) T119M probably benign Het
Col6a6 T A 9: 105,566,825 (GRCm39) K2223N probably benign Het
Dnah11 G A 12: 118,156,005 (GRCm39) probably benign Het
Ezh2 T C 6: 47,508,982 (GRCm39) T674A probably damaging Het
Ffar4 A G 19: 38,085,978 (GRCm39) E135G probably damaging Het
Fsip2 G A 2: 82,824,349 (GRCm39) R6694Q possibly damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm4222 A G 2: 89,978,801 (GRCm39) probably benign Het
Hipk3 T A 2: 104,301,326 (GRCm39) N289Y probably damaging Het
Kndc1 T C 7: 139,503,705 (GRCm39) L1003P probably damaging Het
Mdk T C 2: 91,761,461 (GRCm39) N72S probably damaging Het
Or2at4 T A 7: 99,384,707 (GRCm39) I119N probably damaging Het
Or52n2 T A 7: 104,542,425 (GRCm39) I137F probably damaging Het
Pafah1b3 A T 7: 24,996,516 (GRCm39) C56S probably benign Het
Pdzrn4 A G 15: 92,644,159 (GRCm39) I189V probably damaging Het
Plekhh2 A G 17: 84,884,689 (GRCm39) N801S probably benign Het
Pramel7 A T 2: 87,321,457 (GRCm39) S193T possibly damaging Het
Prkag1 A G 15: 98,712,412 (GRCm39) I171T probably damaging Het
Rap1b A T 10: 117,658,765 (GRCm39) F23I probably damaging Het
Scamp2 A G 9: 57,468,399 (GRCm39) probably benign Het
Ttn A T 2: 76,714,818 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r17 A T 5: 109,574,916 (GRCm39) R74S probably benign Het
Wif1 G T 10: 120,931,940 (GRCm39) C288F probably damaging Het
Other mutations in Prorp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Prorp APN 12 55,355,660 (GRCm39) splice site 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
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
Posted On 2014-05-07