Incidental Mutation 'R5672:Pop1'
ID 442691
Institutional Source Beutler Lab
Gene Symbol Pop1
Ensembl Gene ENSMUSG00000022325
Gene Name processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms 4932434G09Rik
MMRRC Submission 043174-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R5672 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 34495457-34530799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34530325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 908 (K908E)
Ref Sequence ENSEMBL: ENSMUSP00000078037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052290] [ENSMUST00000079028]
AlphaFold Q8K205
Predicted Effect possibly damaging
Transcript: ENSMUST00000052290
AA Change: K938E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: K938E

DomainStartEndE-ValueType
Pfam:POP1 107 190 6.2e-21 PFAM
Pfam:POP1 179 257 2.5e-23 PFAM
low complexity region 382 387 N/A INTRINSIC
Pfam:POPLD 647 738 1.4e-30 PFAM
low complexity region 931 940 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079028
AA Change: K908E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: K908E

DomainStartEndE-ValueType
Pfam:POP1 107 258 1e-46 PFAM
low complexity region 382 387 N/A INTRINSIC
Pfam:POPLD 617 708 1.2e-34 PFAM
low complexity region 901 910 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226504
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,383 (GRCm39) N181S possibly damaging Het
Abcf3 A T 16: 20,368,002 (GRCm39) Q74L probably benign Het
Ankrd13c T C 3: 157,666,664 (GRCm39) probably null Het
Bub1 A G 2: 127,646,800 (GRCm39) F827L possibly damaging Het
Cfap68 T C 9: 50,675,227 (GRCm39) T67A probably benign Het
Cyp2c55 A G 19: 39,023,990 (GRCm39) I355V probably benign Het
Dido1 A G 2: 180,313,696 (GRCm39) S319P probably damaging Het
Efna5 A T 17: 63,188,025 (GRCm39) V34D probably damaging Het
Fam131a G T 16: 20,518,389 (GRCm39) E88D probably damaging Het
Fsip2 A T 2: 82,817,838 (GRCm39) R4524* probably null Het
Gm6899 C T 11: 26,543,484 (GRCm39) probably benign Het
Iqcg C T 16: 32,839,878 (GRCm39) R356Q probably damaging Het
Itgae T A 11: 73,036,377 (GRCm39) I1105N possibly damaging Het
Klb T C 5: 65,537,292 (GRCm39) I874T possibly damaging Het
Klc3 T C 7: 19,130,256 (GRCm39) Y307C probably damaging Het
Lrp1b T A 2: 41,231,771 (GRCm39) H378L probably benign Het
Mxd4 G A 5: 34,335,044 (GRCm39) R114C probably damaging Het
Nrdc A T 4: 108,895,242 (GRCm39) R241* probably null Het
Ofcc1 G A 13: 40,433,905 (GRCm39) H67Y probably damaging Het
Or10ak9 A G 4: 118,726,379 (GRCm39) T134A possibly damaging Het
Or5p5 A G 7: 107,413,844 (GRCm39) T18A probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Pard3b G T 1: 62,049,625 (GRCm39) A128S probably benign Het
Plat T C 8: 23,263,664 (GRCm39) Y188H probably benign Het
Pten A G 19: 32,735,866 (GRCm39) I8V probably benign Het
Pwwp2a C T 11: 43,596,968 (GRCm39) A436V probably damaging Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sdk1 T C 5: 142,173,900 (GRCm39) C2023R possibly damaging Het
Serpina1d A C 12: 103,730,101 (GRCm39) D360E possibly damaging Het
Serpinb9b A G 13: 33,223,582 (GRCm39) D258G probably benign Het
Smgc G A 15: 91,726,108 (GRCm39) S18N possibly damaging Het
Snx27 A T 3: 94,410,157 (GRCm39) probably null Het
Spem1 T G 11: 69,712,263 (GRCm39) K134Q probably damaging Het
Srgap3 T A 6: 112,752,522 (GRCm39) M321L probably benign Het
Tanc1 T C 2: 59,602,697 (GRCm39) C163R possibly damaging Het
Ube2ql1 A T 13: 69,887,446 (GRCm39) L5H unknown Het
Ubn2 T C 6: 38,438,462 (GRCm39) I225T probably damaging Het
Vmn1r181 A C 7: 23,683,741 (GRCm39) T69P probably damaging Het
Vmn2r110 A G 17: 20,816,494 (GRCm39) F10L probably benign Het
Yeats2 T C 16: 19,980,779 (GRCm39) M236T probably damaging Het
Other mutations in Pop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Pop1 APN 15 34,508,875 (GRCm39) missense probably benign 0.00
IGL02192:Pop1 APN 15 34,529,217 (GRCm39) missense probably benign 0.08
IGL02680:Pop1 APN 15 34,502,619 (GRCm39) missense probably damaging 0.99
IGL02958:Pop1 APN 15 34,530,509 (GRCm39) missense probably damaging 0.99
H8562:Pop1 UTSW 15 34,530,358 (GRCm39) missense probably benign 0.00
PIT4802001:Pop1 UTSW 15 34,529,229 (GRCm39) missense probably benign 0.00
R0244:Pop1 UTSW 15 34,516,037 (GRCm39) nonsense probably null
R0281:Pop1 UTSW 15 34,530,004 (GRCm39) splice site probably null
R0453:Pop1 UTSW 15 34,526,352 (GRCm39) missense possibly damaging 0.82
R0579:Pop1 UTSW 15 34,510,115 (GRCm39) missense possibly damaging 0.68
R1054:Pop1 UTSW 15 34,509,955 (GRCm39) missense probably benign 0.30
R1501:Pop1 UTSW 15 34,510,503 (GRCm39) missense probably benign 0.01
R1614:Pop1 UTSW 15 34,530,356 (GRCm39) missense possibly damaging 0.46
R1994:Pop1 UTSW 15 34,530,617 (GRCm39) missense probably damaging 1.00
R2084:Pop1 UTSW 15 34,508,744 (GRCm39) splice site probably benign
R4020:Pop1 UTSW 15 34,508,926 (GRCm39) missense probably benign 0.01
R4550:Pop1 UTSW 15 34,529,082 (GRCm39) missense probably damaging 1.00
R4579:Pop1 UTSW 15 34,515,970 (GRCm39) intron probably benign
R6139:Pop1 UTSW 15 34,529,204 (GRCm39) missense probably benign 0.26
R6161:Pop1 UTSW 15 34,526,456 (GRCm39) missense probably damaging 1.00
R6821:Pop1 UTSW 15 34,508,785 (GRCm39) missense possibly damaging 0.86
R7053:Pop1 UTSW 15 34,530,421 (GRCm39) missense probably benign 0.01
R7195:Pop1 UTSW 15 34,510,525 (GRCm39) missense probably damaging 0.97
R7543:Pop1 UTSW 15 34,530,593 (GRCm39) missense probably damaging 1.00
R7571:Pop1 UTSW 15 34,529,093 (GRCm39) missense probably null 1.00
R7587:Pop1 UTSW 15 34,502,559 (GRCm39) missense probably damaging 0.97
R8401:Pop1 UTSW 15 34,508,755 (GRCm39) missense probably damaging 1.00
R8406:Pop1 UTSW 15 34,529,316 (GRCm39) missense probably benign
R8707:Pop1 UTSW 15 34,529,349 (GRCm39) missense probably benign 0.02
R9044:Pop1 UTSW 15 34,530,554 (GRCm39) missense possibly damaging 0.94
R9066:Pop1 UTSW 15 34,516,060 (GRCm39) missense possibly damaging 0.68
R9236:Pop1 UTSW 15 34,499,558 (GRCm39) missense probably damaging 0.98
R9600:Pop1 UTSW 15 34,512,881 (GRCm39) missense probably benign 0.06
R9711:Pop1 UTSW 15 34,530,227 (GRCm39) missense probably benign
RF001:Pop1 UTSW 15 34,502,583 (GRCm39) missense probably damaging 1.00
RF002:Pop1 UTSW 15 34,502,583 (GRCm39) missense probably damaging 1.00
Z1088:Pop1 UTSW 15 34,499,465 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGAATGACTTCCCCAGAGCC -3'
(R):5'- TAAGGCTTCTCCACAGCCAG -3'

Sequencing Primer
(F):5'- CCCTGGTGTGGGTCAGC -3'
(R):5'- GCAGCCATAGAAAAATCTCCCTGTG -3'
Posted On 2016-11-09