Incidental Mutation 'R9378:Adnp2'
ID 709828
Institutional Source Beutler Lab
Gene Symbol Adnp2
Ensembl Gene ENSMUSG00000053950
Gene Name ADNP homeobox 2
Synonyms 8430420L05Rik, Zfp508
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9378 (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 80172637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 591 (T591A)
Ref Sequence ENSEMBL: ENSMUSP00000068560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066743]
AlphaFold Q8CHC8
Predicted Effect probably benign
Transcript: ENSMUST00000066743
AA Change: T591A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: T591A

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,735 (GRCm39) K1047E possibly damaging Het
Aadacl2fm1 A G 3: 59,839,110 (GRCm39) T11A possibly damaging Het
Abca14 A T 7: 119,807,191 (GRCm39) Y79F possibly damaging Het
Abca2 T A 2: 25,329,094 (GRCm39) M978K probably benign Het
Adamts3 A T 5: 89,848,269 (GRCm39) C684* probably null Het
Aff4 A T 11: 53,263,306 (GRCm39) T109S probably damaging Het
Agmo A G 12: 37,293,720 (GRCm39) I48V probably benign Het
Appl1 G A 14: 26,649,784 (GRCm39) R581* probably null Het
Armc9 A T 1: 86,189,766 (GRCm39) M714L probably benign Het
Atp6v0d2 T A 4: 19,922,377 (GRCm39) T41S probably benign Het
Bin1 A T 18: 32,552,921 (GRCm39) Q182L probably damaging Het
Bmp10 A G 6: 87,410,684 (GRCm39) D159G probably benign Het
Bsn G A 9: 107,984,854 (GRCm39) P295S possibly damaging Het
Cbx6 A G 15: 79,712,606 (GRCm39) S274P probably damaging Het
Cdc20b A G 13: 113,192,631 (GRCm39) K108R probably benign Het
Ces1d T A 8: 93,912,724 (GRCm39) N238I probably damaging Het
Col7a1 C T 9: 108,787,708 (GRCm39) Q663* probably null Het
Cpsf3 T C 12: 21,358,039 (GRCm39) I517T possibly damaging Het
Cyp2a5 C A 7: 26,539,879 (GRCm39) T309N probably damaging Het
Cyp2d40 A G 15: 82,645,802 (GRCm39) F68L possibly damaging Het
Cyp7b1 A T 3: 18,150,837 (GRCm39) W301R probably damaging Het
Dnah6 T A 6: 73,189,513 (GRCm39) N45I probably benign Het
Dnah7a A T 1: 53,621,776 (GRCm39) H1116Q probably benign Het
Dntt A G 19: 41,027,356 (GRCm39) N141S probably benign Het
Fbxl13 T C 5: 21,790,201 (GRCm39) N281D probably damaging Het
Frem2 A T 3: 53,559,410 (GRCm39) L1699H probably damaging Het
Gabrr3 T C 16: 59,282,037 (GRCm39) V464A possibly damaging Het
Gdap1 T A 1: 17,227,353 (GRCm39) I160N probably damaging Het
Hnrnpll C A 17: 80,369,291 (GRCm39) R44L unknown Het
Hsp90ab1 T C 17: 45,881,680 (GRCm39) E187G probably damaging Het
Ighm T A 12: 113,386,210 (GRCm39) T47S Het
Itgb7 A C 15: 102,135,831 (GRCm39) probably null Het
Kif16b A T 2: 142,461,738 (GRCm39) C1293* probably null Het
Klf11 C T 12: 24,705,043 (GRCm39) R166C probably benign Het
Lca5l T A 16: 95,977,212 (GRCm39) Q198L probably damaging Het
Lnx2 A T 5: 146,961,180 (GRCm39) M584K probably benign Het
Lpp A T 16: 24,540,737 (GRCm39) M1L probably benign Het
Lrig3 A G 10: 125,832,953 (GRCm39) T276A probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Megf8 A T 7: 25,039,840 (GRCm39) probably null Het
Myh1 A C 11: 67,093,259 (GRCm39) T117P probably damaging Het
Neb C A 2: 52,134,113 (GRCm39) R3290L possibly damaging Het
Neb A C 2: 52,137,304 (GRCm39) V220G Het
Nktr A T 9: 121,577,264 (GRCm39) K444I probably damaging Het
Nol11 A T 11: 107,064,505 (GRCm39) M483K probably benign Het
Npy1r C A 8: 67,156,861 (GRCm39) P94T probably damaging Het
Nsmaf T C 4: 6,440,940 (GRCm39) T37A probably benign Het
Or10ad1b A G 15: 98,124,920 (GRCm39) L204P possibly damaging Het
Or2y3 G A 17: 38,393,056 (GRCm39) A271V possibly damaging Het
Or4c119 T C 2: 88,987,399 (GRCm39) N40S probably damaging Het
Or51v8 A T 7: 103,319,389 (GRCm39) M283K probably damaging Het
Or5w14 C A 2: 87,541,423 (GRCm39) V276F possibly damaging Het
Or8a1b A G 9: 37,623,473 (GRCm39) I34T probably damaging Het
Or8b37 G A 9: 37,958,775 (GRCm39) V86M possibly damaging Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Pcdha3 A G 18: 37,080,284 (GRCm39) D342G probably damaging Het
Pclo G A 5: 14,815,877 (GRCm39) V1266I Het
Pcnx4 T C 12: 72,602,664 (GRCm39) Y309H probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pdzrn3 T G 6: 101,127,772 (GRCm39) K965Q probably damaging Het
Phldb1 G A 9: 44,615,425 (GRCm39) A225V probably benign Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plat A G 8: 23,265,599 (GRCm39) Y214C probably damaging Het
Plppr1 T A 4: 49,325,627 (GRCm39) C274* probably null Het
Poglut1 A G 16: 38,347,133 (GRCm39) F345L possibly damaging Het
Ppara A T 15: 85,661,837 (GRCm39) E26V possibly damaging Het
Ppcdc A T 9: 57,327,571 (GRCm39) W79R probably damaging Het
Prdm1 C T 10: 44,316,150 (GRCm39) C662Y probably damaging Het
Sgms2 G A 3: 131,136,011 (GRCm39) probably benign Het
Slc31a1 T A 4: 62,306,843 (GRCm39) M133K probably damaging Het
Smg1 G A 7: 117,777,998 (GRCm39) Q1309* probably null Het
Sos1 T C 17: 80,761,239 (GRCm39) I152M probably damaging Het
Stk4 A T 2: 163,952,136 (GRCm39) probably benign Het
Syne1 T G 10: 5,200,954 (GRCm39) N3538T probably damaging Het
Tbc1d16 A G 11: 119,099,666 (GRCm39) F236S probably damaging Het
Tgs1 T A 4: 3,595,475 (GRCm39) M548K probably benign Het
Twf1 G A 15: 94,483,336 (GRCm39) T124I probably damaging Het
Tyro3 G A 2: 119,642,648 (GRCm39) G611R probably damaging Het
Unc13b T A 4: 43,173,282 (GRCm39) I1370K unknown Het
Usp40 A G 1: 87,885,032 (GRCm39) W939R probably damaging Het
Vamp8 A T 6: 72,362,554 (GRCm39) V82E probably damaging Het
Vmn2r17 A G 5: 109,575,732 (GRCm39) H201R possibly damaging Het
Whrn T C 4: 63,350,079 (GRCm39) H546R probably benign Het
Yeats2 T C 16: 20,033,228 (GRCm39) V1036A probably benign Het
Zfp352 T G 4: 90,112,575 (GRCm39) N238K probably benign Het
Zfp36l3 TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG TCCAGG X: 52,776,521 (GRCm39) probably benign Het
Zfp462 T A 4: 55,011,510 (GRCm39) S1159T probably benign Het
Zscan4-ps1 A T 7: 10,800,192 (GRCm39) H232Q probably benign 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
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
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'- TGCACAAACACACTAGGGG -3'
(R):5'- TCAGGGTGTAAACTCTGGCG -3'

Sequencing Primer
(F):5'- TCACCAACACCTGTGGAGAGG -3'
(R):5'- GTGTAAACTCTGGCGTTCTTCAGC -3'
Posted On 2022-04-18