Incidental Mutation 'R8366:Adnp2'
ID 646194
Institutional Source Beutler Lab
Gene Symbol Adnp2
Ensembl Gene ENSMUSG00000053950
Gene Name ADNP homeobox 2
Synonyms 8430420L05Rik, Zfp508
MMRRC Submission 067737-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 80169526-80194697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80173725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 228 (D228G)
Ref Sequence ENSEMBL: ENSMUSP00000068560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066743]
AlphaFold Q8CHC8
Predicted Effect probably damaging
Transcript: ENSMUST00000066743
AA Change: D228G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: D228G

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: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,067,521 (GRCm39) Q590* probably null Het
Adrb2 T A 18: 62,311,775 (GRCm39) Y350F probably benign Het
Agbl4 T C 4: 111,423,861 (GRCm39) S296P probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ampd1 A T 3: 102,995,810 (GRCm39) D240V probably damaging Het
Armh3 T C 19: 45,920,793 (GRCm39) Y468C probably damaging Het
Carmil2 A G 8: 106,419,707 (GRCm39) S838G probably benign Het
Cdh23 A G 10: 60,160,799 (GRCm39) F2056L probably benign Het
Cyp4x1 A T 4: 114,970,063 (GRCm39) S381T probably benign Het
Ddx20 A G 3: 105,594,695 (GRCm39) S17P probably benign Het
Dlgap4 C A 2: 156,542,694 (GRCm39) Y32* probably null Het
Dmbt1 T C 7: 130,668,330 (GRCm39) F529L unknown Het
Ei24 A G 9: 36,697,800 (GRCm39) S117P possibly damaging Het
Esyt1 T G 10: 128,352,422 (GRCm39) N730H possibly damaging Het
Gcfc2 A G 6: 81,900,782 (GRCm39) E32G probably benign Het
Lama1 T C 17: 68,125,699 (GRCm39) I2952T Het
Mkrn3 A T 7: 62,069,543 (GRCm39) S83T probably benign Het
Ncoa2 T A 1: 13,250,830 (GRCm39) D284V probably damaging Het
Or10w1 A G 19: 13,631,903 (GRCm39) S37G probably damaging Het
Osmr T A 15: 6,850,435 (GRCm39) T724S possibly damaging Het
Pex1 A G 5: 3,676,007 (GRCm39) E825G probably benign Het
Ranbp6 A G 19: 29,789,299 (GRCm39) L351P probably damaging Het
Rbm20 C T 19: 53,838,612 (GRCm39) T863I possibly damaging Het
Rcbtb2 T C 14: 73,444,632 (GRCm39) S506P probably benign Het
Rdh12 T A 12: 79,258,288 (GRCm39) I105N probably damaging Het
Ror1 A G 4: 100,267,195 (GRCm39) I299V possibly damaging Het
Rpap3 C T 15: 97,579,548 (GRCm39) R488K probably benign Het
Rps6kb1 A C 11: 86,402,655 (GRCm39) V346G probably damaging Het
Setd2 T C 9: 110,377,816 (GRCm39) S544P probably damaging Het
Sis A T 3: 72,865,566 (GRCm39) V162E probably damaging Het
Slc16a10 A G 10: 39,952,867 (GRCm39) V209A probably benign Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
Teddm2 G T 1: 153,726,575 (GRCm39) H47N probably damaging Het
Tmem74 C T 15: 43,730,315 (GRCm39) G243R probably damaging Het
Trmt10c C T 16: 55,854,426 (GRCm39) R403Q probably benign Het
Vps11 A T 9: 44,267,052 (GRCm39) Y394* probably null Het
Zscan10 G T 17: 23,828,952 (GRCm39) R498L 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
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
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
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'- TTGACTGTTCTGTGGCAAAGC -3'
(R):5'- CAGCATGAAGAAGCACGTGC -3'

Sequencing Primer
(F):5'- TTCTGTGGCAAAGCAAGCTG -3'
(R):5'- GTGCTGGTGGCCCATTTCAATTAC -3'
Posted On 2020-09-02