Incidental Mutation 'R4398:Prim2'
ID 325571
Institutional Source Beutler Lab
Gene Symbol Prim2
Ensembl Gene ENSMUSG00000026134
Gene Name DNA primase, p58 subunit
Synonyms
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 33492891-33708876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33551192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 309 (Y309H)
Ref Sequence ENSEMBL: ENSMUSP00000027312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027312]
AlphaFold P33610
Predicted Effect probably damaging
Transcript: ENSMUST00000027312
AA Change: Y309H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027312
Gene: ENSMUSG00000026134
AA Change: Y309H

DomainStartEndE-ValueType
Pfam:DNA_primase_lrg 182 448 6.2e-99 PFAM
low complexity region 482 503 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189552
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign Het
Other mutations in Prim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Prim2 APN 1 33,551,241 (GRCm39) missense probably damaging 1.00
IGL02576:Prim2 APN 1 33,523,798 (GRCm39) missense probably damaging 1.00
R0398:Prim2 UTSW 1 33,523,757 (GRCm39) splice site probably benign
R0686:Prim2 UTSW 1 33,553,270 (GRCm39) missense probably benign
R1452:Prim2 UTSW 1 33,669,485 (GRCm39) missense probably benign
R3925:Prim2 UTSW 1 33,572,380 (GRCm39) missense probably damaging 1.00
R4831:Prim2 UTSW 1 33,709,217 (GRCm39) unclassified probably benign
R4832:Prim2 UTSW 1 33,503,145 (GRCm39) missense probably benign
R5057:Prim2 UTSW 1 33,669,441 (GRCm39) nonsense probably null
R5240:Prim2 UTSW 1 33,519,397 (GRCm39) intron probably benign
R5294:Prim2 UTSW 1 33,707,974 (GRCm39) missense probably benign 0.11
R5771:Prim2 UTSW 1 33,493,232 (GRCm39) missense unknown
R5807:Prim2 UTSW 1 33,519,487 (GRCm39) intron probably benign
R6307:Prim2 UTSW 1 33,701,373 (GRCm39) missense probably benign 0.00
R7165:Prim2 UTSW 1 33,667,474 (GRCm39) critical splice donor site probably null
R8904:Prim2 UTSW 1 33,669,513 (GRCm39) missense possibly damaging 0.90
R9435:Prim2 UTSW 1 33,523,876 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTTTACCTGTGTTTCAGTGCATA -3'
(R):5'- TTAGTCAAATCTACAGTCACAGCA -3'

Sequencing Primer
(F):5'- GCAATCACATGGTGGTTCAC -3'
(R):5'- AGTCACAGCAAATATGACATGTGGTC -3'
Posted On 2015-07-06