Incidental Mutation 'R6978:Rpp38'
ID 542546
Institutional Source Beutler Lab
Gene Symbol Rpp38
Ensembl Gene ENSMUSG00000049950
Gene Name ribonuclease P/MRP 38 subunit
Synonyms C330006A15Rik
MMRRC Submission 045086-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R6978 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 3329986-3333680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3330758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 48 (L48P)
Ref Sequence ENSEMBL: ENSMUSP00000050992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062672] [ENSMUST00000081932] [ENSMUST00000091504] [ENSMUST00000102989]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000062672
AA Change: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050992
Gene: ENSMUSG00000049950
AA Change: L48P

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Pfam:Ribosomal_L7Ae 96 185 2.2e-16 PFAM
low complexity region 262 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081932
SMART Domains Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 46 58 N/A INTRINSIC
Pfam:NMT 170 327 1e-78 PFAM
Pfam:NMT_C 341 528 2.9e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091504
SMART Domains Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
Pfam:NMT 124 283 2e-84 PFAM
Pfam:NMT_C 297 484 1.4e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102989
SMART Domains Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 46 58 N/A INTRINSIC
Pfam:NMT 137 296 7.8e-85 PFAM
Pfam:NMT_C 310 497 6.4e-88 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprh C T 16: 38,266,171 (GRCm39) G324S probably damaging Het
Amfr T C 8: 94,727,015 (GRCm39) E140G probably damaging Het
Anapc1 G T 2: 128,511,820 (GRCm39) Q458K probably benign Het
Ap1g1 T C 8: 110,554,968 (GRCm39) probably null Het
Arhgap45 G T 10: 79,857,682 (GRCm39) V211F probably benign Het
Baz2b T C 2: 59,738,059 (GRCm39) E1750G possibly damaging Het
Cmpk2 A T 12: 26,527,018 (GRCm39) T336S probably damaging Het
Col6a3 C T 1: 90,735,192 (GRCm39) probably null Het
Cyp2c29 T C 19: 39,310,107 (GRCm39) L272P probably damaging Het
Cyp3a13 A T 5: 137,903,801 (GRCm39) S286T probably benign Het
Cyp4f18 T G 8: 72,756,340 (GRCm39) S79R probably benign Het
Dio1 T C 4: 107,164,030 (GRCm39) T96A probably benign Het
Dnah7a T C 1: 53,701,526 (GRCm39) I210V probably null Het
Epha4 A G 1: 77,354,220 (GRCm39) Y841H probably damaging Het
Gm12695 T C 4: 96,657,959 (GRCm39) D70G possibly damaging Het
Gtf3c1 G T 7: 125,244,706 (GRCm39) T1680K possibly damaging Het
Hnrnpul2 T C 19: 8,801,640 (GRCm39) V314A probably damaging Het
Irx3 G T 8: 92,527,356 (GRCm39) P116Q probably damaging Het
Lrp4 C T 2: 91,322,343 (GRCm39) R1060C probably damaging Het
Mark3 G A 12: 111,593,582 (GRCm39) V205I probably benign Het
Mchr1 T C 15: 81,121,997 (GRCm39) L249P possibly damaging Het
Med26 T C 8: 73,250,427 (GRCm39) N224S possibly damaging Het
Megf9 C T 4: 70,351,766 (GRCm39) V452I probably benign Het
Mki67 T C 7: 135,303,691 (GRCm39) R726G probably benign Het
Mst1r T A 9: 107,789,793 (GRCm39) L583Q probably benign Het
Mybpc1 A G 10: 88,358,886 (GRCm39) C1102R probably damaging Het
Nr6a1 T C 2: 38,762,631 (GRCm39) T55A probably benign Het
Nup210l G A 3: 90,061,873 (GRCm39) R684Q possibly damaging Het
Or13a24 A C 7: 140,154,200 (GRCm39) I45L probably damaging Het
Or4f7 T A 2: 111,644,155 (GRCm39) L305F probably benign Het
Or6x1 C T 9: 40,099,085 (GRCm39) R225W probably damaging Het
Pgbd1 A G 13: 21,607,432 (GRCm39) L254P probably damaging Het
Pou6f2 A G 13: 18,347,063 (GRCm39) F10L probably damaging Het
Ppfia3 T A 7: 44,996,272 (GRCm39) T726S probably benign Het
Rab21 T A 10: 115,134,766 (GRCm39) M118L possibly damaging Het
Rbm6 T C 9: 107,729,774 (GRCm39) probably null Het
Rmc1 T C 18: 12,318,804 (GRCm39) Y430H probably benign Het
Sart3 A T 5: 113,883,807 (GRCm39) I735N probably damaging Het
Slc44a1 T A 4: 53,544,671 (GRCm39) Y461N probably damaging Het
Smok2b A T 17: 13,455,295 (GRCm39) *485L probably null Het
Speer4a2 C A 5: 26,291,454 (GRCm39) E117D probably damaging Het
Spink8 T C 9: 109,649,725 (GRCm39) V69A probably benign Het
Spred2 G A 11: 19,948,254 (GRCm39) R83Q possibly damaging Het
Tmc1 T C 19: 20,781,999 (GRCm39) N573S probably damaging Het
Tmem275 C T 4: 115,755,560 (GRCm39) Q120* probably null Het
Tox4 G T 14: 52,524,694 (GRCm39) probably null Het
Unc13c T C 9: 73,839,259 (GRCm39) S531G probably benign Het
Vmn2r56 C T 7: 12,449,333 (GRCm39) V302I probably benign Het
Ypel1 C T 16: 16,902,438 (GRCm39) A110V probably benign Het
Zfp395 G A 14: 65,623,882 (GRCm39) R117H probably benign Het
Zic5 T C 14: 122,696,960 (GRCm39) T552A unknown Het
Zic5 CGACGAGTAG C 14: 122,696,967 (GRCm39) probably benign Het
Other mutations in Rpp38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02608:Rpp38 APN 2 3,330,198 (GRCm39) missense probably benign 0.02
R3881:Rpp38 UTSW 2 3,330,283 (GRCm39) missense probably benign 0.01
R6475:Rpp38 UTSW 2 3,330,644 (GRCm39) missense probably benign 0.00
RF008:Rpp38 UTSW 2 3,330,072 (GRCm39) missense unknown
Z1176:Rpp38 UTSW 2 3,330,559 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAATGACCAGCTGTTTCC -3'
(R):5'- ATGTTCTCAAGACATGCATTGCTG -3'

Sequencing Primer
(F):5'- AATGACCAGCTGTTTCCTGACG -3'
(R):5'- ACATGCATTGCTGACAGGAGTTTC -3'
Posted On 2018-11-28