Incidental Mutation 'R1479:Prorp'
ID 164221
Institutional Source Beutler Lab
Gene Symbol Prorp
Ensembl Gene ENSMUSG00000021023
Gene Name protein only RNase P catalytic subunit
Synonyms Mrpp3, 1110008L16Rik
MMRRC Submission 039532-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R1479 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55349422-55429276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55426172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 138 (D138E)
Ref Sequence ENSEMBL: ENSMUSP00000138821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021411] [ENSMUST00000163070] [ENSMUST00000183475] [ENSMUST00000183654] [ENSMUST00000184766] [ENSMUST00000184980]
AlphaFold Q8JZY4
Predicted Effect probably damaging
Transcript: ENSMUST00000021411
AA Change: D507E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
AA Change: D507E

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: D491E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
AA Change: D491E

DomainStartEndE-ValueType
low complexity region 410 424 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183654
AA Change: D138E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138821
Gene: ENSMUSG00000021023
AA Change: D138E

DomainStartEndE-ValueType
Pfam:RNase_Zc3h12a 33 185 8e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184766
AA Change: D507E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
AA Change: D507E

DomainStartEndE-ValueType
PDB:4G26|A 153 581 1e-9 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000184980
AA Change: D194E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139123
Gene: ENSMUSG00000021023
AA Change: D194E

DomainStartEndE-ValueType
low complexity region 113 127 N/A INTRINSIC
Meta Mutation Damage Score 0.1700 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (81/84)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik T A 9: 50,652,601 (GRCm39) T58S possibly damaging Het
Alox12e A G 11: 70,211,608 (GRCm39) V252A probably benign Het
Anks6 T C 4: 47,044,874 (GRCm39) D344G probably damaging Het
Atg14 A T 14: 47,784,696 (GRCm39) probably null Het
Bcr G T 10: 74,896,957 (GRCm39) E34* probably null Het
Birc6 C T 17: 74,941,848 (GRCm39) T2728M probably damaging Het
Bmp2k T A 5: 97,201,059 (GRCm39) N326K probably benign Het
Brme1 C A 8: 84,889,026 (GRCm39) T123K possibly damaging Het
Ccdc188 A C 16: 18,037,154 (GRCm39) T242P possibly damaging Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdin1 T A 2: 115,469,494 (GRCm39) N74K probably benign Het
Chsy3 A T 18: 59,541,985 (GRCm39) E374D probably benign Het
Clca4b A T 3: 144,621,229 (GRCm39) V615E probably damaging Het
Clcnka C A 4: 141,116,758 (GRCm39) A498S possibly damaging Het
Csmd3 A G 15: 47,721,282 (GRCm39) C1450R probably damaging Het
Cul7 C A 17: 46,962,673 (GRCm39) D101E probably damaging Het
Cyp27b1 G A 10: 126,887,580 (GRCm39) probably null Het
Cyp2d22 A G 15: 82,256,137 (GRCm39) S404P probably damaging Het
Dclk3 G A 9: 111,297,614 (GRCm39) S386N probably benign Het
Dnah10 G A 5: 124,854,953 (GRCm39) D1953N possibly damaging Het
Dst T A 1: 34,303,596 (GRCm39) probably null Het
Egfem1 A G 3: 29,711,314 (GRCm39) N241D probably damaging Het
Entpd7 T C 19: 43,710,279 (GRCm39) F312S probably damaging Het
Esp34 T A 17: 38,865,219 (GRCm39) probably benign Het
Foxd2 T A 4: 114,765,115 (GRCm39) T302S unknown Het
Fzd6 A T 15: 38,894,394 (GRCm39) N187Y probably damaging Het
Gbp9 C T 5: 105,241,930 (GRCm39) probably benign Het
Gna14 T C 19: 16,511,133 (GRCm39) S61P possibly damaging Het
Grap A T 11: 61,551,124 (GRCm39) Y52F probably benign Het
H2-T3 T C 17: 36,500,320 (GRCm39) Y125C probably damaging Het
Hax1 C A 3: 89,903,164 (GRCm39) E212D probably damaging Het
Hecw1 A C 13: 14,491,077 (GRCm39) S638R probably benign Het
Hira A T 16: 18,715,219 (GRCm39) K39M probably damaging Het
Hoxa2 T A 6: 52,140,320 (GRCm39) D222V probably damaging Het
Hycc2 T A 1: 58,591,427 (GRCm39) R91* probably null Het
Jph2 C T 2: 163,181,191 (GRCm39) V658M possibly damaging Het
Kansl1 A T 11: 104,233,242 (GRCm39) S762T probably damaging Het
Kat6b T A 14: 21,669,024 (GRCm39) C267S probably benign Het
Klk6 A G 7: 43,481,058 (GRCm39) N250S probably benign Het
Lbp T C 2: 158,161,634 (GRCm39) L232S probably damaging Het
Lcn9 A T 2: 25,713,715 (GRCm39) probably benign Het
Lcp2 A G 11: 34,025,068 (GRCm39) H213R probably benign Het
Lrrc9 A T 12: 72,507,599 (GRCm39) K367* probably null Het
Lyst A G 13: 13,809,067 (GRCm39) I246V probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mst1r T C 9: 107,790,544 (GRCm39) probably benign Het
Myo18a A G 11: 77,733,020 (GRCm39) E909G probably benign Het
Nipbl A T 15: 8,379,773 (GRCm39) D1006E probably benign Het
Or4k5 C A 14: 50,386,245 (GRCm39) V29F probably benign Het
Or5d37 A G 2: 87,923,630 (GRCm39) F217L probably benign Het
Or8d1b A T 9: 38,887,058 (GRCm39) I29F probably benign Het
Otog A G 7: 45,945,402 (GRCm39) I2220V possibly damaging Het
Pcx T A 19: 4,652,052 (GRCm39) I99N probably damaging Het
Pi4ka C T 16: 17,191,264 (GRCm39) G211D probably benign Het
Pp2d1 T C 17: 53,814,883 (GRCm39) S614G probably benign Het
Prdx6 G A 1: 161,071,833 (GRCm39) A111V probably damaging Het
Prss51 G A 14: 64,333,619 (GRCm39) probably null Het
Psmd6 C T 14: 14,116,819 (GRCm38) probably benign Het
Pten T A 19: 32,797,250 (GRCm39) L345Q probably damaging Het
Qrich2 T G 11: 116,332,311 (GRCm39) H2295P probably benign Het
Rgs11 T C 17: 26,427,257 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,018 (GRCm39) E408G probably damaging Het
Septin4 G T 11: 87,458,244 (GRCm39) R206L probably damaging Het
Slc38a7 T C 8: 96,575,122 (GRCm39) T53A probably benign Het
Spata31g1 A C 4: 42,972,543 (GRCm39) K625N possibly damaging Het
Sptbn1 A G 11: 30,063,909 (GRCm39) C1957R probably damaging Het
Sumf1 T C 6: 108,153,019 (GRCm39) Y123C probably damaging Het
Tnrc6b T A 15: 80,771,233 (GRCm39) probably null Het
Ttc21a C A 9: 119,786,013 (GRCm39) D670E probably benign Het
Ttn A G 2: 76,574,855 (GRCm39) V25346A probably damaging Het
Ubr4 A G 4: 139,153,151 (GRCm39) T2070A possibly damaging Het
Vmn2r57 C A 7: 41,077,254 (GRCm39) W304L possibly damaging Het
Vps13a T C 19: 16,727,478 (GRCm39) probably benign Het
Zfp647 A G 15: 76,795,403 (GRCm39) V419A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AAAGAGAGCCTCTTCTGCCTCCTG -3'
(R):5'- GTGTGTCCAAAACTAGCCTGTCCC -3'

Sequencing Primer
(F):5'- TCCTGGAGTGTCTGACCG -3'
(R):5'- cccccccacACACACAC -3'
Posted On 2014-03-28