Incidental Mutation 'R5807:Prim2'
ID 448556
Institutional Source Beutler Lab
Gene Symbol Prim2
Ensembl Gene ENSMUSG00000026134
Gene Name DNA primase, p58 subunit
Synonyms
MMRRC Submission 043393-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R5807 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 33492891-33708876 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 33519487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027312]
AlphaFold P33610
Predicted Effect probably benign
Transcript: ENSMUST00000027312
SMART Domains Protein: ENSMUSP00000027312
Gene: ENSMUSG00000026134

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: ENSMUST00000185489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189552
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (65/66)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,342,651 (GRCm39) L943P probably damaging Het
Abcg5 C A 17: 84,979,719 (GRCm39) V214F probably damaging Het
Ang T A 14: 51,338,886 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,523,546 (GRCm39) probably null Het
Arhgef4 A G 1: 34,846,696 (GRCm39) probably benign Het
Atp11b T C 3: 35,866,428 (GRCm39) I409T probably damaging Het
Atp5f1b G A 10: 127,924,431 (GRCm39) probably benign Het
Atp9a G A 2: 168,495,454 (GRCm39) A660V probably damaging Het
Avpr1a A G 10: 122,285,376 (GRCm39) T223A probably benign Het
Bmp2k T C 5: 97,211,353 (GRCm39) M507T unknown Het
Cep295 A G 9: 15,243,828 (GRCm39) S287P probably damaging Het
Chrna7 T A 7: 62,798,349 (GRCm39) D111V probably damaging Het
Clxn A T 16: 14,734,836 (GRCm39) I69F probably benign Het
Cnr2 A G 4: 135,644,747 (GRCm39) D275G probably benign Het
Col28a1 T A 6: 8,158,144 (GRCm39) M305L probably benign Het
Cpb1 T A 3: 20,317,906 (GRCm39) D206V probably damaging Het
Cyp2c50 T C 19: 40,101,944 (GRCm39) L453S probably damaging Het
Ddx52 T G 11: 83,840,508 (GRCm39) S284A probably benign Het
Eif2ak4 G T 2: 118,219,332 (GRCm39) R48L probably benign Het
Esrrb A G 12: 86,561,175 (GRCm39) E303G possibly damaging Het
Fbxo21 A G 5: 118,114,933 (GRCm39) E23G probably benign Het
Fcamr T C 1: 130,739,263 (GRCm39) S188P probably damaging Het
Fer1l6 C A 15: 58,462,399 (GRCm39) S818* probably null Het
Fn1 T C 1: 71,687,218 (GRCm39) D213G probably damaging Het
Gcg A G 2: 62,306,069 (GRCm39) I176T possibly damaging Het
Glis1 T A 4: 107,425,279 (GRCm39) S109T probably benign Het
Gm266 T C 12: 111,452,173 (GRCm39) D11G probably benign Het
Gm5070 C A 3: 95,317,965 (GRCm39) noncoding transcript Het
Gm8444 T C 15: 81,727,654 (GRCm39) probably benign Het
Golga4 A G 9: 118,356,198 (GRCm39) T117A probably damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Gvin-ps5 T A 7: 105,929,430 (GRCm39) noncoding transcript Het
Herc2 T A 7: 55,880,667 (GRCm39) F4766L probably damaging Het
Inhbc C A 10: 127,193,411 (GRCm39) E202* probably null Het
Kcnu1 C T 8: 26,339,742 (GRCm39) T20I possibly damaging Het
Klhdc3 T C 17: 46,988,391 (GRCm39) D161G probably damaging Het
Krt84 T A 15: 101,438,647 (GRCm39) K280M probably damaging Het
Krtap9-5 T A 11: 99,839,895 (GRCm39) C199S unknown Het
Mrgprb3 A G 7: 48,293,110 (GRCm39) V147A probably benign Het
Ndufs6 A T 13: 73,475,553 (GRCm39) F48L probably damaging Het
Obscn T C 11: 58,970,476 (GRCm39) S2586G probably damaging Het
Or10n1 A G 9: 39,525,759 (GRCm39) R299G probably benign Het
Or13c7b C A 4: 43,820,912 (GRCm39) V150L probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Osbpl6 A G 2: 76,414,857 (GRCm39) D416G probably damaging Het
Pdilt A G 7: 119,099,766 (GRCm39) probably benign Het
Phf12 C A 11: 77,913,252 (GRCm39) D401E probably benign Het
Pla2r1 C T 2: 60,259,065 (GRCm39) V1108M possibly damaging Het
Ptpn6 T C 6: 124,701,947 (GRCm39) H406R probably benign Het
Qpctl G T 7: 18,877,132 (GRCm39) H329N probably damaging Het
Ripk3 T A 14: 56,022,755 (GRCm39) N390Y probably damaging Het
Rnase1 A G 14: 51,382,907 (GRCm39) V149A probably benign Het
Rtn3 T A 19: 7,434,192 (GRCm39) D581V probably damaging Het
Slamf1 A G 1: 171,602,630 (GRCm39) Y119C probably damaging Het
Slc25a34 A G 4: 141,350,973 (GRCm39) M12T probably benign Het
Tmem38a A G 8: 73,333,944 (GRCm39) Y141C probably damaging Het
Tnr C T 1: 159,714,500 (GRCm39) T793I possibly damaging Het
Tns3 T C 11: 8,443,211 (GRCm39) D384G probably damaging Het
Vmn2r116 T A 17: 23,606,281 (GRCm39) Y398N probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null 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
R4398:Prim2 UTSW 1 33,551,192 (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
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'- GCCCTCAGCTGATAGAAAAGC -3'
(R):5'- AATAACCTGGTTGTCCTGCGG -3'

Sequencing Primer
(F):5'- GGGATTGCTGTGCTCCTTTACC -3'
(R):5'- TCCTGCGGCTTGTGTTC -3'
Posted On 2016-12-15