Incidental Mutation 'R6903:Adnp2'
ID 538666
Institutional Source Beutler Lab
Gene Symbol Adnp2
Ensembl Gene ENSMUSG00000053950
Gene Name ADNP homeobox 2
Synonyms 8430420L05Rik, Zfp508
MMRRC Submission 044996-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6903 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 80169526-80194697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80173305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 368 (N368S)
Ref Sequence ENSEMBL: ENSMUSP00000068560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066743]
AlphaFold Q8CHC8
Predicted Effect probably benign
Transcript: ENSMUST00000066743
AA Change: N368S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: N368S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,143,952 (GRCm39) L15Q probably benign Het
Acsf2 T C 11: 94,450,417 (GRCm39) M497V probably benign Het
BC034090 T C 1: 155,097,131 (GRCm39) T656A probably benign Het
Bsph1 A G 7: 13,192,183 (GRCm39) Y26C probably damaging Het
Cct7 T C 6: 85,443,675 (GRCm39) F306L probably benign Het
Cd109 A G 9: 78,543,885 (GRCm39) Q143R probably damaging Het
Cfap46 A T 7: 139,234,477 (GRCm39) probably null Het
Col3a1 A G 1: 45,371,148 (GRCm39) N436D probably damaging Het
Col6a3 T C 1: 90,721,929 (GRCm39) E1498G probably damaging Het
Cyp2u1 T C 3: 131,096,424 (GRCm39) D118G probably benign Het
Dek A G 13: 47,251,663 (GRCm39) S51P possibly damaging Het
Dock6 C T 9: 21,720,860 (GRCm39) G1746D probably damaging Het
Dscam T A 16: 96,621,988 (GRCm39) N488Y probably damaging Het
Ebpl G T 14: 61,597,693 (GRCm39) Y49* probably null Het
Eefsec C T 6: 88,423,265 (GRCm39) G66D probably benign Het
Epha6 T A 16: 60,346,825 (GRCm39) Y146F probably benign Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Frmd4a A G 2: 4,591,267 (GRCm39) R96G probably damaging Het
Gm5814 A G 17: 47,721,352 (GRCm39) probably benign Het
Hspa13 C G 16: 75,554,872 (GRCm39) V405L probably damaging Het
Iqgap2 A G 13: 95,797,565 (GRCm39) V1079A probably damaging Het
Kcnj9 C A 1: 172,153,623 (GRCm39) R167L probably damaging Het
Kdm1b T A 13: 47,227,880 (GRCm39) D620E probably benign Het
Kif23 T C 9: 61,834,436 (GRCm39) R442G possibly damaging Het
Nectin1 C A 9: 43,703,179 (GRCm39) P146T possibly damaging Het
Noc4l A G 5: 110,797,461 (GRCm39) I391T probably damaging Het
Npr1 C A 3: 90,362,452 (GRCm39) R956L possibly damaging Het
Or11g7 T A 14: 50,691,412 (GRCm39) M301K possibly damaging Het
Or11j4 T A 14: 50,631,089 (GRCm39) M292K possibly damaging Het
Pcdhgb2 T C 18: 37,825,223 (GRCm39) V738A possibly damaging Het
Ptpn20 A G 14: 33,336,461 (GRCm39) E100G probably damaging Het
Rgs10 A G 7: 127,990,797 (GRCm39) F97S probably damaging Het
Shisa6 T C 11: 66,265,982 (GRCm39) probably null Het
Shld1 A T 2: 132,592,564 (GRCm39) K204* probably null Het
Sirpb1a T C 3: 15,481,984 (GRCm39) T115A probably damaging Het
Supv3l1 A G 10: 62,277,016 (GRCm39) C251R probably damaging Het
Svopl T C 6: 37,998,543 (GRCm39) S244G probably benign Het
Tes T C 6: 17,099,862 (GRCm39) Y286H probably damaging Het
Tnfrsf22 G A 7: 143,193,641 (GRCm39) probably benign Het
Vmn1r185 A G 7: 26,311,160 (GRCm39) I115T probably damaging Het
Vmn2r-ps117 A G 17: 19,058,552 (GRCm39) T703A possibly damaging Het
Zan T A 5: 137,454,566 (GRCm39) I1413L unknown Het
Zc3h12d G T 10: 7,743,425 (GRCm39) M398I probably benign Het
Zfp219 G A 14: 52,244,118 (GRCm39) T642M probably benign Het
Zfp646 G A 7: 127,479,892 (GRCm39) E690K possibly damaging Het
Zfr T A 15: 12,136,541 (GRCm39) V66D unknown 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
R4260:Adnp2 UTSW 18 80,180,742 (GRCm39) missense possibly damaging 0.85
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
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'- GTTAACAGAGGGACCCATAGGC -3'
(R):5'- GTCAAAGCTCTGGCACTGTG -3'

Sequencing Primer
(F):5'- TAGGCAAGACAGCAGGCCC -3'
(R):5'- AGTCAGTGACTGTGACCCCAG -3'
Posted On 2018-11-06