Incidental Mutation 'R6161:Pop1'
ID 489890
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 044308-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 34495457-34530799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34526456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 684 (Y684H)
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: Y714H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052654
Gene: ENSMUSG00000022325
AA Change: Y714H

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: Y684H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078037
Gene: ENSMUSG00000022325
AA Change: Y684H

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: ENSMUST00000132427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153061
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W 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
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
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'- TGCCCCTATATGGACAGTTAAGC -3'
(R):5'- ACCAGATAGGCCTCTACAGG -3'

Sequencing Primer
(F):5'- TTAGTAAACTGACAGGGCCCCTTG -3'
(R):5'- ACAGTTACTGCAGCCATC -3'
Posted On 2017-10-10