Incidental Mutation 'R9128:Poln'
ID 693393
Institutional Source Beutler Lab
Gene Symbol Poln
Ensembl Gene ENSMUSG00000045102
Gene Name DNA polymerase N
Synonyms POL4P
MMRRC Submission 068927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 34164523-34326792 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34171658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 747 (P747L)
Ref Sequence ENSEMBL: ENSMUSP00000036110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000202409] [ENSMUST00000202638]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000042954
AA Change: P747L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: P747L

DomainStartEndE-ValueType
low complexity region 110 121 N/A INTRINSIC
POLAc 605 814 7.88e-67 SMART
low complexity region 829 843 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: P729L

DomainStartEndE-ValueType
low complexity region 110 121 N/A INTRINSIC
coiled coil region 448 471 N/A INTRINSIC
POLAc 587 796 2.6e-69 SMART
low complexity region 811 825 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202638
AA Change: P703L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: P703L

DomainStartEndE-ValueType
low complexity region 110 121 N/A INTRINSIC
coiled coil region 448 471 N/A INTRINSIC
POLAc 605 770 3e-37 SMART
low complexity region 785 799 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced meiotic double-strand breaks at a meiotic recombination hot spot harboring insertion/deletion polymorphisms, but are otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,838,352 (GRCm39) V542A possibly damaging Het
Abhd8 G T 8: 71,914,389 (GRCm39) R80S probably benign Het
Actc1 T C 2: 113,880,946 (GRCm39) Y93C possibly damaging Het
Actn4 G T 7: 28,593,929 (GRCm39) D859E possibly damaging Het
Adcy2 C T 13: 68,773,927 (GRCm39) G1039R probably damaging Het
Als2 A G 1: 59,219,709 (GRCm39) M1202T probably benign Het
Aste1 T A 9: 105,273,908 (GRCm39) Y49* probably null Het
Atp8b4 T C 2: 126,234,750 (GRCm39) D422G probably benign Het
Bag6 T A 17: 35,363,688 (GRCm39) S791T probably damaging Het
Bivm T A 1: 44,167,949 (GRCm39) W222R probably null Het
Bod1l A C 5: 41,946,266 (GRCm39) V3003G probably benign Het
Bsn T C 9: 107,993,349 (GRCm39) D801G probably benign Het
Ccdc14 G A 16: 34,527,159 (GRCm39) D403N probably damaging Het
Cenpj T A 14: 56,780,319 (GRCm39) E964V probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Clca3a1 G A 3: 144,463,795 (GRCm39) R161W probably damaging Het
Dcxr A T 11: 120,617,372 (GRCm39) V57E Het
Dnah17 T G 11: 117,937,004 (GRCm39) N3400T possibly damaging Het
Dnaja3 C T 16: 4,520,164 (GRCm39) T444I possibly damaging Het
Dop1a T C 9: 86,395,208 (GRCm39) S772P probably benign Het
Ednrb T C 14: 104,080,528 (GRCm39) N129D probably damaging Het
Ep300 T A 15: 81,533,946 (GRCm39) M2001K unknown Het
Fam3b A G 16: 97,302,200 (GRCm39) I8T probably benign Het
Fam98c A T 7: 28,854,115 (GRCm39) S85T Het
Fat1 G A 8: 45,462,878 (GRCm39) V1232I probably benign Het
Fzd3 T A 14: 65,449,626 (GRCm39) Y484F probably damaging Het
H3f3a T C 1: 180,630,660 (GRCm39) I131M possibly damaging Het
Ifi206 A T 1: 173,299,022 (GRCm39) D861E unknown Het
Ihh T C 1: 74,985,498 (GRCm39) Y329C probably damaging Het
Jak2 A G 19: 29,278,462 (GRCm39) N909D probably damaging Het
Krtap12-1 C A 10: 77,556,623 (GRCm39) C55* probably null Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mreg T C 1: 72,231,216 (GRCm39) T81A probably benign Het
Muc16 T C 9: 18,558,878 (GRCm39) T2472A unknown Het
Nanos3 A T 8: 84,903,080 (GRCm39) D27E probably benign Het
Nox3 T G 17: 3,720,136 (GRCm39) S350R probably damaging Het
Or4m1 A G 14: 50,558,214 (GRCm39) V26A probably benign Het
Or8k18 T A 2: 86,086,022 (GRCm39) N5I probably damaging Het
Pafah2 C T 4: 134,147,281 (GRCm39) T310M probably damaging Het
Pals1 A G 12: 78,843,832 (GRCm39) E12G probably benign Het
Pianp A G 6: 124,977,658 (GRCm39) I185V probably benign Het
Pja2 T C 17: 64,616,470 (GRCm39) T142A probably benign Het
Pramel25 T A 4: 143,520,178 (GRCm39) S141T probably benign Het
Rdx T A 9: 51,976,179 (GRCm39) L39* probably null Het
Rnf146 A G 10: 29,223,539 (GRCm39) W116R probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sec24d A G 3: 123,087,810 (GRCm39) T224A probably benign Het
Serpinb9 T A 13: 33,190,686 (GRCm39) I54K possibly damaging Het
Slc25a13 A T 6: 6,109,987 (GRCm39) L324Q probably null Het
Slc9c1 T C 16: 45,400,490 (GRCm39) L700P probably benign Het
Snta1 T C 2: 154,222,856 (GRCm39) K289R probably benign Het
Sppl2a A G 2: 126,765,393 (GRCm39) F243S probably damaging Het
Syne1 T C 10: 5,058,556 (GRCm39) E7319G probably benign Het
Taf5l G A 8: 124,730,014 (GRCm39) P225L probably benign Het
Tet2 A T 3: 133,175,374 (GRCm39) N1324K possibly damaging Het
Usp5 A T 6: 124,800,414 (GRCm39) probably null Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vps16 A G 2: 130,266,319 (GRCm39) D2G possibly damaging Het
Vwf T C 6: 125,619,693 (GRCm39) L1457P Het
Xpo1 A G 11: 23,235,058 (GRCm39) T576A probably damaging Het
Zdhhc6 A T 19: 55,301,680 (GRCm39) Y100* probably null Het
Zfp534 T A 4: 147,760,082 (GRCm39) R196* probably null Het
Zfp710 C T 7: 79,731,122 (GRCm39) R100W probably damaging Het
Zfp750 T C 11: 121,404,674 (GRCm39) K67R probably benign Het
Zmynd10 T C 9: 107,426,326 (GRCm39) S158P Het
Zmynd8 A T 2: 165,700,058 (GRCm39) M1K probably null Het
Other mutations in Poln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Poln APN 5 34,280,104 (GRCm39) missense probably benign 0.17
IGL00938:Poln APN 5 34,286,568 (GRCm39) missense probably damaging 1.00
IGL02081:Poln APN 5 34,286,483 (GRCm39) missense probably benign
IGL02411:Poln APN 5 34,270,666 (GRCm39) nonsense probably null
IGL02440:Poln APN 5 34,286,474 (GRCm39) missense probably damaging 1.00
IGL02484:Poln APN 5 34,286,721 (GRCm39) missense probably damaging 1.00
IGL02577:Poln APN 5 34,270,679 (GRCm39) missense probably benign 0.03
IGL03113:Poln APN 5 34,274,206 (GRCm39) missense probably benign 0.01
R0034:Poln UTSW 5 34,272,762 (GRCm39) missense possibly damaging 0.78
R0034:Poln UTSW 5 34,272,762 (GRCm39) missense possibly damaging 0.78
R0068:Poln UTSW 5 34,234,432 (GRCm39) splice site probably benign
R0068:Poln UTSW 5 34,234,432 (GRCm39) splice site probably benign
R0325:Poln UTSW 5 34,307,108 (GRCm39) missense probably benign 0.00
R0578:Poln UTSW 5 34,171,682 (GRCm39) missense probably damaging 1.00
R0631:Poln UTSW 5 34,276,302 (GRCm39) missense possibly damaging 0.93
R1171:Poln UTSW 5 34,261,284 (GRCm39) missense probably damaging 1.00
R1266:Poln UTSW 5 34,290,453 (GRCm39) critical splice donor site probably null
R1418:Poln UTSW 5 34,236,319 (GRCm39) missense probably benign 0.00
R1449:Poln UTSW 5 34,171,682 (GRCm39) missense probably damaging 1.00
R1558:Poln UTSW 5 34,190,143 (GRCm39) missense probably benign 0.04
R1723:Poln UTSW 5 34,280,016 (GRCm39) missense probably benign 0.16
R1806:Poln UTSW 5 34,264,494 (GRCm39) splice site probably benign
R4124:Poln UTSW 5 34,261,295 (GRCm39) missense probably benign 0.32
R4125:Poln UTSW 5 34,261,295 (GRCm39) missense probably benign 0.32
R4128:Poln UTSW 5 34,261,295 (GRCm39) missense probably benign 0.32
R4155:Poln UTSW 5 34,166,993 (GRCm39) missense possibly damaging 0.90
R4353:Poln UTSW 5 34,286,796 (GRCm39) missense probably benign 0.00
R4717:Poln UTSW 5 34,286,792 (GRCm39) missense possibly damaging 0.46
R4788:Poln UTSW 5 34,286,675 (GRCm39) missense probably benign 0.30
R4981:Poln UTSW 5 34,264,429 (GRCm39) critical splice donor site probably null
R5456:Poln UTSW 5 34,164,786 (GRCm39) missense possibly damaging 0.95
R6020:Poln UTSW 5 34,266,775 (GRCm39) missense probably damaging 0.99
R6484:Poln UTSW 5 34,286,857 (GRCm39) missense probably benign 0.01
R7134:Poln UTSW 5 34,276,340 (GRCm39) missense possibly damaging 0.86
R7639:Poln UTSW 5 34,290,495 (GRCm39) missense possibly damaging 0.77
R7764:Poln UTSW 5 34,274,151 (GRCm39) critical splice donor site probably null
R7874:Poln UTSW 5 34,181,694 (GRCm39) missense probably damaging 1.00
R8039:Poln UTSW 5 34,280,016 (GRCm39) missense probably benign 0.16
R8315:Poln UTSW 5 34,266,717 (GRCm39) missense probably benign 0.00
R8320:Poln UTSW 5 34,307,171 (GRCm39) missense possibly damaging 0.70
R8340:Poln UTSW 5 34,307,118 (GRCm39) missense probably damaging 0.99
R8794:Poln UTSW 5 34,286,871 (GRCm39) missense possibly damaging 0.85
R8926:Poln UTSW 5 34,286,769 (GRCm39) missense probably benign 0.24
R9021:Poln UTSW 5 34,286,485 (GRCm39) missense probably benign 0.00
R9382:Poln UTSW 5 34,164,842 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GACAGTTTTCAGAGCATGACTTTC -3'
(R):5'- GTAGAAGCTTGATGGCTGGC -3'

Sequencing Primer
(F):5'- AGTTTTCAGAGCATGACTTTCACACC -3'
(R):5'- GGGCCTTACTCTCCCACAGAC -3'
Posted On 2022-01-20