Incidental Mutation 'R4260:Adnp2'
ID 322634
Institutional Source Beutler Lab
Gene Symbol Adnp2
Ensembl Gene ENSMUSG00000053950
Gene Name ADNP homeobox 2
Synonyms 8430420L05Rik, Zfp508
MMRRC Submission 041073-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4260 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 80169526-80194697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80180742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 52 (S52L)
Ref Sequence ENSEMBL: ENSMUSP00000068560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066743]
AlphaFold Q8CHC8
Predicted Effect possibly damaging
Transcript: ENSMUST00000066743
AA Change: S52L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: S52L

DomainStartEndE-ValueType
ZnF_C2H2 73 96 4.57e0 SMART
ZnF_C2H2 106 128 1.06e2 SMART
ZnF_C2H2 155 178 5.48e0 SMART
ZnF_C2H2 215 240 7.29e0 SMART
low complexity region 277 290 N/A INTRINSIC
low complexity region 298 318 N/A INTRINSIC
low complexity region 333 355 N/A INTRINSIC
low complexity region 545 567 N/A INTRINSIC
low complexity region 625 648 N/A INTRINSIC
low complexity region 656 674 N/A INTRINSIC
ZnF_C2H2 696 718 9.96e0 SMART
ZnF_C2H2 724 746 4.99e1 SMART
low complexity region 747 761 N/A INTRINSIC
ZnF_C2H2 777 798 1.93e2 SMART
ZnF_C2H2 800 823 4.34e0 SMART
ZnF_C2H2 905 928 5.81e-2 SMART
HOX 1073 1135 3.25e-4 SMART
Meta Mutation Damage Score 0.1613 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Best3 A T 10: 116,860,131 (GRCm39) M464L probably benign Het
Ccdc83 T G 7: 89,877,599 (GRCm39) D281A possibly damaging Het
Ccnf G A 17: 24,445,741 (GRCm39) P502S probably damaging Het
Cd109 T A 9: 78,543,745 (GRCm39) S96R possibly damaging Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cntnap5a G T 1: 116,374,325 (GRCm39) A946S probably benign Het
Csnk2a2 A T 8: 96,184,027 (GRCm39) D177E probably benign Het
Cyld T C 8: 89,468,019 (GRCm39) S551P probably damaging Het
Degs1 A T 1: 182,106,806 (GRCm39) I151N probably benign Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Eif2ak3 G A 6: 70,866,497 (GRCm39) R597H probably damaging Het
Epg5 A T 18: 78,002,336 (GRCm39) H585L possibly damaging Het
Epg5 G C 18: 78,058,914 (GRCm39) W1889C probably damaging Het
Fam220a G C 5: 143,548,762 (GRCm39) R58P possibly damaging Het
Gemin5 G A 11: 58,059,185 (GRCm39) A32V probably damaging Het
Gm11189 A C 11: 53,091,703 (GRCm39) noncoding transcript Het
Grb2 A G 11: 115,540,642 (GRCm39) I85T probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kel A T 6: 41,663,357 (GRCm39) probably benign Het
Kifap3 C A 1: 163,689,597 (GRCm39) T527K probably damaging Het
Klra10 A G 6: 130,249,644 (GRCm39) W214R probably damaging Het
Luc7l3 A T 11: 94,186,876 (GRCm39) probably benign Het
Mrpl4 A G 9: 20,918,988 (GRCm39) E211G possibly damaging Het
Or4k39 T A 2: 111,238,850 (GRCm39) noncoding transcript Het
Or52n5 A C 7: 104,587,803 (GRCm39) E23D probably damaging Het
Pbld2 T C 10: 62,860,186 (GRCm39) probably benign Het
Plcg1 T C 2: 160,593,627 (GRCm39) probably null Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ptpdc1 A G 13: 48,733,234 (GRCm39) M802T probably benign Het
Ptprf A G 4: 118,083,280 (GRCm39) F909S possibly damaging Het
Raph1 A T 1: 60,542,124 (GRCm39) M330K possibly damaging Het
Rprd1a G A 18: 24,621,352 (GRCm39) R276C possibly damaging Het
Scg3 A G 9: 75,558,979 (GRCm39) Y406H probably damaging Het
Setdb1 G A 3: 95,234,808 (GRCm39) S965F probably damaging Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Spata17 T A 1: 186,780,677 (GRCm39) T357S possibly damaging Het
Tmt1a A G 15: 100,210,951 (GRCm39) D141G probably benign Het
Zap70 T A 1: 36,818,189 (GRCm39) probably benign Het
Zfp985 G A 4: 147,668,029 (GRCm39) C299Y probably damaging Het
Other mutations in Adnp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Adnp2 APN 18 80,172,082 (GRCm39) missense probably benign 0.00
IGL00730:Adnp2 APN 18 80,171,247 (GRCm39) missense probably benign
IGL01615:Adnp2 APN 18 80,171,692 (GRCm39) missense probably damaging 1.00
IGL01681:Adnp2 APN 18 80,171,103 (GRCm39) missense probably damaging 1.00
IGL02549:Adnp2 APN 18 80,172,333 (GRCm39) missense probably damaging 1.00
R0003:Adnp2 UTSW 18 80,174,205 (GRCm39) missense probably damaging 1.00
R0003:Adnp2 UTSW 18 80,174,205 (GRCm39) missense probably damaging 1.00
R0013:Adnp2 UTSW 18 80,172,960 (GRCm39) missense probably damaging 0.99
R0013:Adnp2 UTSW 18 80,172,960 (GRCm39) missense probably damaging 0.99
R0325:Adnp2 UTSW 18 80,173,868 (GRCm39) missense probably benign 0.06
R0478:Adnp2 UTSW 18 80,172,549 (GRCm39) missense probably benign 0.31
R0545:Adnp2 UTSW 18 80,172,616 (GRCm39) missense probably benign 0.31
R0788:Adnp2 UTSW 18 80,173,219 (GRCm39) missense probably benign
R1756:Adnp2 UTSW 18 80,170,912 (GRCm39) makesense probably null
R2043:Adnp2 UTSW 18 80,171,541 (GRCm39) missense probably damaging 1.00
R2121:Adnp2 UTSW 18 80,172,385 (GRCm39) missense probably benign 0.00
R2260:Adnp2 UTSW 18 80,171,664 (GRCm39) missense probably benign 0.01
R2374:Adnp2 UTSW 18 80,174,202 (GRCm39) missense probably damaging 1.00
R3416:Adnp2 UTSW 18 80,171,373 (GRCm39) missense possibly damaging 0.55
R3607:Adnp2 UTSW 18 80,172,284 (GRCm39) missense probably damaging 1.00
R4012:Adnp2 UTSW 18 80,174,036 (GRCm39) missense probably benign 0.01
R4588:Adnp2 UTSW 18 80,171,863 (GRCm39) missense probably benign 0.22
R5158:Adnp2 UTSW 18 80,180,758 (GRCm39) missense probably damaging 0.99
R5652:Adnp2 UTSW 18 80,174,065 (GRCm39) missense probably damaging 1.00
R5717:Adnp2 UTSW 18 80,171,479 (GRCm39) missense probably benign 0.13
R6743:Adnp2 UTSW 18 80,171,274 (GRCm39) missense probably benign 0.00
R6786:Adnp2 UTSW 18 80,172,960 (GRCm39) missense probably benign 0.03
R6903:Adnp2 UTSW 18 80,173,305 (GRCm39) missense probably benign
R7105:Adnp2 UTSW 18 80,171,366 (GRCm39) missense possibly damaging 0.94
R7507:Adnp2 UTSW 18 80,174,068 (GRCm39) missense probably benign 0.22
R7620:Adnp2 UTSW 18 80,173,702 (GRCm39) missense probably damaging 1.00
R7914:Adnp2 UTSW 18 80,174,056 (GRCm39) missense probably damaging 0.96
R7991:Adnp2 UTSW 18 80,172,537 (GRCm39) missense probably damaging 0.97
R8290:Adnp2 UTSW 18 80,185,948 (GRCm39) missense probably damaging 1.00
R8366:Adnp2 UTSW 18 80,173,725 (GRCm39) missense probably damaging 1.00
R8712:Adnp2 UTSW 18 80,174,185 (GRCm39) missense probably damaging 1.00
R8742:Adnp2 UTSW 18 80,171,556 (GRCm39) missense probably damaging 1.00
R8932:Adnp2 UTSW 18 80,185,893 (GRCm39) missense probably damaging 1.00
R9108:Adnp2 UTSW 18 80,185,925 (GRCm39) missense probably damaging 1.00
R9163:Adnp2 UTSW 18 80,172,200 (GRCm39) missense possibly damaging 0.82
R9378:Adnp2 UTSW 18 80,172,637 (GRCm39) missense probably benign 0.00
R9567:Adnp2 UTSW 18 80,174,133 (GRCm39) missense probably damaging 1.00
R9664:Adnp2 UTSW 18 80,185,937 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGACTCTAGTGCCACTTCC -3'
(R):5'- TGAGCCTCATGGTCTAATGTTTCC -3'

Sequencing Primer
(F):5'- AGTGCCACTTCCTCCCAC -3'
(R):5'- ACAAGGTGCTAAGTTGCCC -3'
Posted On 2015-06-20