Incidental Mutation 'R5205:Prorp'
ID 398462
Institutional Source Beutler Lab
Gene Symbol Prorp
Ensembl Gene ENSMUSG00000021023
Gene Name protein only RNase P catalytic subunit
Synonyms Mrpp3, 1110008L16Rik
MMRRC Submission 042780-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.513) question?
Stock # R5205 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55349422-55429276 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 55351226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 178 (Y178*)
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 null
Transcript: ENSMUST00000021411
AA Change: Y178*
SMART Domains Protein: ENSMUSP00000021411
Gene: ENSMUSG00000021023
AA Change: Y178*

DomainStartEndE-ValueType
Pfam:PRORP 339 575 4.8e-106 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000183475
AA Change: Y178*
SMART Domains Protein: ENSMUSP00000139252
Gene: ENSMUSG00000021023
AA Change: Y178*

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 null
Transcript: ENSMUST00000184766
AA Change: Y178*
SMART Domains Protein: ENSMUSP00000139204
Gene: ENSMUSG00000021023
AA Change: Y178*

DomainStartEndE-ValueType
PDB:4G26|A 153 581 1e-9 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218116
Predicted Effect probably benign
Transcript: ENSMUST00000184980
SMART Domains Protein: ENSMUSP00000139123
Gene: ENSMUSG00000021023

DomainStartEndE-ValueType
low complexity region 113 127 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G A 18: 59,101,880 (GRCm39) R650Q probably damaging Het
Adgre4 G T 17: 56,101,727 (GRCm39) E216* probably null Het
Aldh6a1 T A 12: 84,486,418 (GRCm39) M167L probably damaging Het
Asb16 G A 11: 102,159,820 (GRCm39) D58N probably damaging Het
Cfap43 C A 19: 47,885,987 (GRCm39) L209F possibly damaging Het
Cfh A G 1: 140,071,708 (GRCm39) C327R probably damaging Het
Chd7 T A 4: 8,752,509 (GRCm39) N335K possibly damaging Het
Clca3a1 T C 3: 144,452,545 (GRCm39) E646G possibly damaging Het
Col6a6 A T 9: 105,659,232 (GRCm39) V571D probably damaging Het
Cttnbp2 T C 6: 18,427,432 (GRCm39) probably benign Het
Dennd1b T A 1: 138,982,306 (GRCm39) S132T probably benign Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnaaf2 C T 12: 69,239,698 (GRCm39) V608I probably damaging Het
Edem3 A T 1: 151,687,270 (GRCm39) D717V probably damaging Het
Fam135a T C 1: 24,068,592 (GRCm39) N589S probably benign Het
Gm13991 G C 2: 116,358,681 (GRCm39) noncoding transcript Het
Ighv2-3 T C 12: 113,574,895 (GRCm39) S87G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcna2 T C 3: 107,004,462 (GRCm39) probably benign Het
Klra4 T A 6: 130,039,080 (GRCm39) N104I probably damaging Het
Lrrc28 A G 7: 67,181,516 (GRCm39) S240P probably benign Het
Majin T C 19: 6,245,789 (GRCm39) I27T possibly damaging Het
Mfhas1 G A 8: 36,058,161 (GRCm39) E879K probably benign Het
Mif-ps6 A T 9: 14,756,768 (GRCm39) noncoding transcript Het
Msh4 A G 3: 153,572,049 (GRCm39) L583P probably damaging Het
Nrxn1 A T 17: 90,471,302 (GRCm39) N1234K probably damaging Het
Or5b120 T C 19: 13,480,163 (GRCm39) L152P probably damaging Het
Orm1 T C 4: 63,262,929 (GRCm39) I32T possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Plppr2 A T 9: 21,852,370 (GRCm39) T85S probably damaging Het
Ppp1r9b T A 11: 94,892,124 (GRCm39) W604R probably benign Het
Prss56 G T 1: 87,113,256 (GRCm39) D195Y probably damaging Het
Psme4 T A 11: 30,782,666 (GRCm39) probably benign Het
Rbm25 T A 12: 83,719,643 (GRCm39) D554E probably benign Het
Rbm6 A G 9: 107,665,542 (GRCm39) M618T probably benign Het
Slc17a5 A G 9: 78,485,899 (GRCm39) V62A probably damaging Het
Slk T A 19: 47,613,899 (GRCm39) N918K possibly damaging Het
Syne1 C A 10: 5,002,295 (GRCm39) A8126S probably benign Het
Synj2 T C 17: 5,991,793 (GRCm39) L23S probably damaging Het
Taar2 A C 10: 23,816,874 (GRCm39) H138P probably benign Het
Taar7b A T 10: 23,875,916 (GRCm39) E27V probably benign Het
Tbc1d2b A G 9: 90,089,863 (GRCm39) Y889H probably damaging Het
Tmem43 T C 6: 91,463,763 (GRCm39) I346T possibly damaging Het
Ttc3 T A 16: 94,248,918 (GRCm39) C1139S probably benign Het
Txndc11 A G 16: 10,946,529 (GRCm39) V94A probably damaging Het
Ush2a T A 1: 188,607,133 (GRCm39) H4009Q probably benign Het
Wnk4 A G 11: 101,155,964 (GRCm39) E407G possibly damaging Het
Ybx1 G T 4: 119,136,348 (GRCm39) D261E probably damaging Het
Zfp985 A T 4: 147,667,368 (GRCm39) I79F probably 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
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
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'- TTTGAATTCCGCAGAGTGGG -3'
(R):5'- GGGCTCCTTGTATACAGTCAC -3'

Sequencing Primer
(F):5'- TTTGAATTCCGCAGAGTGGGATAAAC -3'
(R):5'- GGGCTCCTTGTATACAGTCACCATAG -3'
Posted On 2016-07-06