Incidental Mutation 'R1994:Pop1'
ID 224208
Institutional Source Beutler Lab
Gene Symbol Pop1
Ensembl Gene ENSMUSG00000022325
Gene Name processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)
Synonyms 4932434G09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R1994 (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 C at 34530617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 1005 (Q1005P)
Ref Sequence ENSEMBL: ENSMUSP00000078037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052290] [ENSMUST00000079028]
AlphaFold Q8K205
Predicted Effect probably damaging
Transcript: ENSMUST00000052290
AA Change: Q1035P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: Q1035P

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 probably damaging
Transcript: ENSMUST00000079028
AA Change: Q1005P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: Q1005P

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,113,014 (GRCm39) probably null Het
Abcc8 T G 7: 45,806,543 (GRCm39) R388S probably benign Het
Abhd18 C T 3: 40,889,361 (GRCm39) R414* probably null Het
Acap1 C T 11: 69,780,324 (GRCm39) V40I probably benign Het
Actn1 C A 12: 80,251,745 (GRCm39) G111* probably null Het
Adam26b T C 8: 43,973,676 (GRCm39) Q442R probably benign Het
Adamts19 T C 18: 59,105,903 (GRCm39) probably null Het
Agtpbp1 T G 13: 59,678,872 (GRCm39) K145N probably damaging Het
AI661453 A G 17: 47,777,959 (GRCm39) probably benign Het
Ap4e1 T C 2: 126,903,467 (GRCm39) S790P probably benign Het
Asmt A G X: 169,109,524 (GRCm39) E168G possibly damaging Het
Atp2a3 T A 11: 72,866,240 (GRCm39) S287T probably damaging Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Bicd1 A T 6: 149,415,050 (GRCm39) T588S probably benign Het
Birc6 T G 17: 74,905,057 (GRCm39) N1283K probably benign Het
Cacna1e T A 1: 154,353,563 (GRCm39) Q423L probably damaging Het
Capn3 T A 2: 120,326,418 (GRCm39) Y537N probably damaging Het
Ccn3 T A 15: 54,612,750 (GRCm39) V253E probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Chgb T C 2: 132,628,418 (GRCm39) S48P possibly damaging Het
Cidec T A 6: 113,405,193 (GRCm39) Y159F probably damaging Het
Clec18a T C 8: 111,808,234 (GRCm39) S66G possibly damaging Het
Cpsf1 G A 15: 76,487,360 (GRCm39) T138M probably benign Het
Dclre1c C T 2: 3,439,022 (GRCm39) R61W probably damaging Het
Eef1akmt1 A C 14: 57,787,911 (GRCm39) V149G probably benign Het
Fam131b T C 6: 42,297,818 (GRCm39) T112A possibly damaging Het
Fbln2 A G 6: 91,211,283 (GRCm39) E409G probably damaging Het
Fkbp15 G A 4: 62,222,618 (GRCm39) P1094S probably benign Het
Fpr1 A G 17: 18,097,879 (GRCm39) S37P probably benign Het
Fryl G T 5: 73,265,836 (GRCm39) T495K probably damaging Het
Gja6 A T X: 159,686,374 (GRCm39) I186N possibly damaging Het
Gm4922 T C 10: 18,659,388 (GRCm39) T445A probably benign Het
Gria2 G A 3: 80,709,664 (GRCm39) L10F probably benign Het
Gspt2 A G X: 93,681,025 (GRCm39) D388G possibly damaging Het
Hdc T A 2: 126,458,107 (GRCm39) I72F probably damaging Het
Ift70b A G 2: 75,768,402 (GRCm39) L117P probably damaging Het
Igf2r T C 17: 12,911,625 (GRCm39) K1905E probably benign Het
Il33 A G 19: 29,934,304 (GRCm39) D155G possibly damaging Het
Klk1b9 C T 7: 43,628,979 (GRCm39) T161I probably benign Het
Mfsd12 C A 10: 81,193,515 (GRCm39) H28Q probably damaging Het
Mgat5 A T 1: 127,387,696 (GRCm39) I551F possibly damaging Het
Miga2 A T 2: 30,272,000 (GRCm39) D25V probably damaging Het
Mlc1 T C 15: 88,858,782 (GRCm39) N122S possibly damaging Het
Mmp20 T A 9: 7,645,293 (GRCm39) M281K probably benign Het
Muc5ac C A 7: 141,366,889 (GRCm39) P2232T possibly damaging Het
N4bp2l2 A G 5: 150,584,748 (GRCm39) S411P possibly damaging Het
Ngef G A 1: 87,415,626 (GRCm39) S346L probably damaging Het
Or10j27 C T 1: 172,958,418 (GRCm39) R122H possibly damaging Het
Or2t6 A G 14: 14,175,854 (GRCm38) I76T probably benign Het
Or4c112 T A 2: 88,853,487 (GRCm39) T287S probably damaging Het
Or4f15 T A 2: 111,814,429 (GRCm39) M5L probably benign Het
Or51aa2 T C 7: 103,187,566 (GRCm39) I292V possibly damaging Het
Or52m2 C T 7: 102,263,747 (GRCm39) V150M probably damaging Het
Or56b2 T C 7: 104,337,690 (GRCm39) I156T probably benign Het
Or6c215 T C 10: 129,637,530 (GRCm39) Y288C probably damaging Het
Or6c6 T A 10: 129,186,561 (GRCm39) I43N probably damaging Het
Pecam1 G T 11: 106,586,763 (GRCm39) H150N possibly damaging Het
Polr3c A T 3: 96,621,689 (GRCm39) probably null Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prss33 G A 17: 24,053,172 (GRCm39) A223V probably damaging Het
Prss53 C T 7: 127,486,565 (GRCm39) V354I probably benign Het
Rab3gap2 C T 1: 184,968,221 (GRCm39) T191I probably damaging Het
Rictor T C 15: 6,805,637 (GRCm39) F608L probably benign Het
Ryr3 T A 2: 112,484,837 (GRCm39) E3884V probably null Het
Scaf11 G A 15: 96,316,721 (GRCm39) R948* probably null Het
Sec61g A T 11: 16,456,444 (GRCm39) V40E probably damaging Het
Serpinb3d A T 1: 107,008,518 (GRCm39) F116I possibly damaging Het
Sipa1l3 T C 7: 29,099,036 (GRCm39) D411G probably benign Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc35a2 T A X: 7,759,064 (GRCm39) L110Q probably damaging Het
Spata31d1b G C 13: 59,864,194 (GRCm39) L447F probably benign Het
Spsb2 T C 6: 124,786,329 (GRCm39) probably null Het
Tent4b C T 8: 88,973,112 (GRCm39) T277M probably damaging Het
Tmcc3 T C 10: 94,414,468 (GRCm39) S57P possibly damaging Het
Traf7 A G 17: 24,729,476 (GRCm39) V445A probably damaging Het
Trib1 A G 15: 59,521,192 (GRCm39) S61G possibly damaging Het
Trip12 A T 1: 84,726,893 (GRCm39) F36I probably damaging Het
Tshz3 T C 7: 36,469,247 (GRCm39) I412T probably damaging Het
Tsku T C 7: 98,001,353 (GRCm39) Y326C probably damaging Het
Ttn T G 2: 76,712,038 (GRCm39) probably benign Het
Ugt1a6a G A 1: 88,066,470 (GRCm39) R92H probably benign Het
Vmn1r63 A G 7: 5,806,254 (GRCm39) V126A probably benign Het
Vmn2r84 T A 10: 130,221,878 (GRCm39) S781C probably damaging Het
Wdr91 T A 6: 34,869,297 (GRCm39) H409L probably damaging Het
Wnt7a T A 6: 91,342,938 (GRCm39) T315S possibly damaging Het
Zdhhc25 A G 15: 88,485,027 (GRCm39) T121A probably benign Het
Zfp109 T C 7: 23,928,743 (GRCm39) H222R probably benign Het
Zfp286 A G 11: 62,670,646 (GRCm39) S476P probably damaging Het
Zfp605 T C 5: 110,275,418 (GRCm39) Y179H probably damaging Het
Zfp955a T C 17: 33,460,620 (GRCm39) H504R probably damaging Het
Zswim2 T A 2: 83,746,007 (GRCm39) N477I possibly 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
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
R5672:Pop1 UTSW 15 34,530,325 (GRCm39) missense possibly damaging 0.63
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'- TAACCTCACACTGCTCCAGG -3'
(R):5'- TTAAGCATATTCCCAGGACAGGAAAAG -3'

Sequencing Primer
(F):5'- TGCTCCAGGCTCCTCCTAGG -3'
(R):5'- TCCCAGGACAGGAAAAGATGGAAAAG -3'
Posted On 2014-08-25