Incidental Mutation 'R9674:Exd2'
ID 728252
Institutional Source Beutler Lab
Gene Symbol Exd2
Ensembl Gene ENSMUSG00000032705
Gene Name exonuclease 3'-5' domain containing 2
Synonyms 4930539P14Rik, Exdl2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R9674 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 80509869-80544909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80536372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 334 (N334S)
Ref Sequence ENSEMBL: ENSMUSP00000043049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038185] [ENSMUST00000219039]
AlphaFold Q8VEG4
Predicted Effect probably benign
Transcript: ENSMUST00000038185
AA Change: N334S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
AA Change: N334S

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 40 72 N/A INTRINSIC
35EXOc 105 291 3.8e-10 SMART
Blast:HNHc 438 492 1e-6 BLAST
low complexity region 517 532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000219039
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A T 3: 59,914,472 (GRCm39) D25V possibly damaging Het
Abca16 A G 7: 120,074,668 (GRCm39) probably null Het
Adam9 T A 8: 25,441,014 (GRCm39) T820S possibly damaging Het
Adamts6 G A 13: 104,563,448 (GRCm39) V647I probably benign Het
Afap1l2 T A 19: 56,922,195 (GRCm39) R14S probably damaging Het
Aff3 C T 1: 38,248,864 (GRCm39) V748I probably damaging Het
Aldh5a1 T C 13: 25,110,038 (GRCm39) I166V probably benign Het
Alx4 G T 2: 93,507,858 (GRCm39) L384F probably damaging Het
Ank3 T A 10: 69,824,549 (GRCm39) S1073T Het
Ankrd50 A G 3: 38,506,574 (GRCm39) C275R unknown Het
Apol11a G A 15: 77,401,347 (GRCm39) S278N possibly damaging Het
Astn2 T A 4: 65,460,963 (GRCm39) D1057V probably damaging Het
Atp11a T C 8: 12,877,525 (GRCm39) V317A probably benign Het
Cacna1i A G 15: 80,264,629 (GRCm39) T1486A probably damaging Het
Cadps A G 14: 12,454,291 (GRCm38) F1076L probably damaging Het
Cct6b T C 11: 82,645,838 (GRCm39) T154A probably damaging Het
Cfap69 A G 5: 5,697,021 (GRCm39) F92L possibly damaging Het
Cyp19a1 A T 9: 54,074,141 (GRCm39) I471K possibly damaging Het
Cyp26a1 T A 19: 37,689,726 (GRCm39) M474K probably damaging Het
Cyp4a12a T C 4: 115,186,156 (GRCm39) S439P probably benign Het
Cyp4f37 T A 17: 32,846,841 (GRCm39) probably null Het
Dgki A G 6: 37,027,157 (GRCm39) Y395H probably damaging Het
Dlg1 T C 16: 31,610,580 (GRCm39) V287A probably damaging Het
Dlx2 C T 2: 71,376,496 (GRCm39) G81S possibly damaging Het
Dnah8 G T 17: 30,998,112 (GRCm39) K3448N possibly damaging Het
Dnhd1 C T 7: 105,363,429 (GRCm39) P3997L probably damaging Het
Drosha C G 15: 12,890,170 (GRCm39) D910E probably damaging Het
Dscam A G 16: 96,442,036 (GRCm39) V1597A probably benign Het
Eif1b A G 9: 120,323,265 (GRCm39) K42E possibly damaging Het
Enpp2 C A 15: 54,816,135 (GRCm39) G10W unknown Het
Glt6d1 T A 2: 25,684,382 (GRCm39) N208I probably benign Het
Grin2a T A 16: 9,471,265 (GRCm39) K668* probably null Het
Grm1 A G 10: 10,609,028 (GRCm39) V535A possibly damaging Het
H2ac7 A G 13: 23,758,862 (GRCm39) D73G possibly damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Ighm T A 12: 113,385,139 (GRCm39) I274F Het
Ighv1-58 G T 12: 115,275,847 (GRCm39) T97K probably damaging Het
Igkv6-20 T C 6: 70,312,852 (GRCm39) H107R possibly damaging Het
Il15 C T 8: 83,069,938 (GRCm39) G42D probably damaging Het
Jakmip2 T A 18: 43,704,961 (GRCm39) M347L probably benign Het
Kcnh7 T C 2: 62,595,060 (GRCm39) Y670C probably damaging Het
Ktn1 G C 14: 47,922,213 (GRCm39) C458S possibly damaging Het
Lama5 C T 2: 179,840,267 (GRCm39) probably null Het
Lce1i T C 3: 92,685,113 (GRCm39) Q21R unknown Het
Lmo7 A T 14: 102,078,340 (GRCm39) E81D probably damaging Het
Lrrc4b A T 7: 44,111,852 (GRCm39) I575F probably damaging Het
Mmrn1 C T 6: 60,948,072 (GRCm39) Q272* probably null Het
Nbea A T 3: 55,966,183 (GRCm39) D426E probably damaging Het
Neto1 G A 18: 86,491,827 (GRCm39) V243M probably damaging Het
Notch1 G A 2: 26,361,308 (GRCm39) R1061C probably damaging Het
Or5g25 T G 2: 85,478,593 (GRCm39) Q24P possibly damaging Het
Or5p67 A T 7: 107,922,271 (GRCm39) I204N probably benign Het
Osgin1 A G 8: 120,172,499 (GRCm39) D431G possibly damaging Het
Ppp4r1 A G 17: 66,140,127 (GRCm39) D675G probably damaging Het
Pramel25 T A 4: 143,520,162 (GRCm39) H135Q probably benign Het
Prkdc T A 16: 15,533,819 (GRCm39) H1552Q probably damaging Het
Rbfox1 T C 16: 7,170,885 (GRCm39) F282L probably benign Het
Ret T C 6: 118,130,830 (GRCm39) D1111G probably damaging Het
Rnf224 A T 2: 25,126,330 (GRCm39) Y8N probably benign Het
Rtl1 G T 12: 109,559,024 (GRCm39) H938Q possibly damaging Het
Sec23ip T G 7: 128,380,187 (GRCm39) D867E probably damaging Het
Sema3f A T 9: 107,566,947 (GRCm39) L194Q possibly damaging Het
Sfmbt1 C T 14: 30,495,851 (GRCm39) R45C probably damaging Het
Slc7a4 T C 16: 17,392,208 (GRCm39) I409V probably benign Het
Slco6c1 T A 1: 97,047,565 (GRCm39) D246V probably damaging Het
Smap2 C T 4: 120,826,745 (GRCm39) M426I probably benign Het
Spata31h1 C T 10: 82,120,030 (GRCm39) V4327I possibly damaging Het
Tmem184b T A 15: 79,249,524 (GRCm39) T315S probably benign Het
Trpm4 A T 7: 44,982,811 (GRCm39) D30E possibly damaging Het
Ttc7b T A 12: 100,432,553 (GRCm39) K154N probably benign Het
Vps13b T A 15: 35,607,380 (GRCm39) H1104Q probably damaging Het
Wnk4 T A 11: 101,166,874 (GRCm39) L1010Q unknown Het
Xpo6 T A 7: 125,723,700 (GRCm39) H537L probably benign Het
Xrn1 A T 9: 95,855,645 (GRCm39) Y314F probably damaging Het
Xrn1 A T 9: 95,855,647 (GRCm39) I315F possibly damaging Het
Zap70 T C 1: 36,810,150 (GRCm39) Y87H probably benign Het
Zbtb4 T C 11: 69,669,973 (GRCm39) Y899H probably damaging Het
Zcchc7 T A 4: 44,931,418 (GRCm39) H202Q possibly damaging Het
Zeb2 A G 2: 44,891,725 (GRCm39) Y276H probably damaging Het
Zfp867 T G 11: 59,355,850 (GRCm39) Q68P probably benign Het
Other mutations in Exd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Exd2 APN 12 80,522,940 (GRCm39) missense probably damaging 1.00
IGL00546:Exd2 APN 12 80,527,321 (GRCm39) missense probably benign 0.05
IGL02964:Exd2 APN 12 80,527,302 (GRCm39) missense probably damaging 0.99
IGL03036:Exd2 APN 12 80,536,185 (GRCm39) missense probably damaging 1.00
R0304:Exd2 UTSW 12 80,538,014 (GRCm39) unclassified probably benign
R0436:Exd2 UTSW 12 80,537,544 (GRCm39) splice site probably benign
R1290:Exd2 UTSW 12 80,531,100 (GRCm39) missense probably benign 0.00
R1772:Exd2 UTSW 12 80,536,253 (GRCm39) missense probably benign 0.00
R2102:Exd2 UTSW 12 80,527,377 (GRCm39) missense possibly damaging 0.78
R2104:Exd2 UTSW 12 80,543,575 (GRCm39) missense probably benign 0.01
R2408:Exd2 UTSW 12 80,531,015 (GRCm39) splice site probably benign
R3693:Exd2 UTSW 12 80,527,467 (GRCm39) missense probably damaging 1.00
R4748:Exd2 UTSW 12 80,527,350 (GRCm39) missense probably damaging 1.00
R4773:Exd2 UTSW 12 80,522,592 (GRCm39) missense possibly damaging 0.46
R5022:Exd2 UTSW 12 80,543,564 (GRCm39) missense probably damaging 1.00
R5057:Exd2 UTSW 12 80,543,564 (GRCm39) missense probably damaging 1.00
R5179:Exd2 UTSW 12 80,531,118 (GRCm39) missense probably damaging 1.00
R5377:Exd2 UTSW 12 80,536,222 (GRCm39) missense probably damaging 1.00
R7246:Exd2 UTSW 12 80,527,309 (GRCm39) missense probably damaging 1.00
R7761:Exd2 UTSW 12 80,522,546 (GRCm39) missense probably damaging 0.98
R7776:Exd2 UTSW 12 80,539,334 (GRCm39) missense probably damaging 1.00
R8032:Exd2 UTSW 12 80,536,427 (GRCm39) missense probably benign 0.00
R8420:Exd2 UTSW 12 80,522,771 (GRCm39) missense probably benign
R8559:Exd2 UTSW 12 80,522,631 (GRCm39) missense probably benign 0.00
R9064:Exd2 UTSW 12 80,531,148 (GRCm39) critical splice donor site probably null
R9173:Exd2 UTSW 12 80,536,236 (GRCm39) missense probably benign 0.00
R9274:Exd2 UTSW 12 80,539,674 (GRCm39) critical splice donor site probably null
RF013:Exd2 UTSW 12 80,522,706 (GRCm39) frame shift probably null
RF015:Exd2 UTSW 12 80,522,691 (GRCm39) intron probably benign
RF022:Exd2 UTSW 12 80,522,691 (GRCm39) intron probably benign
RF023:Exd2 UTSW 12 80,522,689 (GRCm39) intron probably benign
RF025:Exd2 UTSW 12 80,522,729 (GRCm39) intron probably benign
RF029:Exd2 UTSW 12 80,522,720 (GRCm39) frame shift probably null
RF035:Exd2 UTSW 12 80,522,729 (GRCm39) intron probably benign
RF035:Exd2 UTSW 12 80,522,674 (GRCm39) intron probably benign
RF039:Exd2 UTSW 12 80,522,715 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATATCCCACTGACCTCTGGC -3'
(R):5'- GCTCTAACTCTTCAACATCAGGG -3'

Sequencing Primer
(F):5'- AACTTATGCTGCCAGGGATGC -3'
(R):5'- TCTTCAACATCAGGGAACATGCG -3'
Posted On 2022-10-06