Incidental Mutation 'R7991:Adnp2'
ID 651772
Institutional Source Beutler Lab
Gene Symbol Adnp2
Ensembl Gene ENSMUSG00000053950
Gene Name ADNP homeobox 2
Synonyms 8430420L05Rik, Zfp508
MMRRC Submission 046032-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7991 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 80169526-80194697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80172537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 624 (L624P)
Ref Sequence ENSEMBL: ENSMUSP00000068560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066743]
AlphaFold Q8CHC8
Predicted Effect probably damaging
Transcript: ENSMUST00000066743
AA Change: L624P

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: L624P

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,185,726 (GRCm39) D1200G probably damaging Het
Akap9 A G 5: 4,114,949 (GRCm39) probably null Het
Ap2a2 A G 7: 141,189,760 (GRCm39) Y249C probably damaging Het
Asxl2 A T 12: 3,534,531 (GRCm39) N243Y probably damaging Het
Btnl4 A G 17: 34,693,257 (GRCm39) S53P probably damaging Het
Caly T C 7: 139,651,513 (GRCm39) D116G possibly damaging Het
Ccdc121rt2 G A 5: 112,598,791 (GRCm39) R446H probably benign Het
Ccdc168 T A 1: 44,098,869 (GRCm39) H743L probably benign Het
Ccdc81 G A 7: 89,539,609 (GRCm39) A209V probably benign Het
Cdc14a A G 3: 116,101,887 (GRCm39) S347P probably benign Het
Cdh9 G T 15: 16,828,489 (GRCm39) A194S probably damaging Het
Clca3a2 A G 3: 144,519,756 (GRCm39) V206A probably benign Het
Clca4a A T 3: 144,658,500 (GRCm39) V905E possibly damaging Het
Cluap1 A G 16: 3,746,485 (GRCm39) E282G probably damaging Het
Cmtm2b T A 8: 105,056,419 (GRCm39) C109* probably null Het
Crtac1 T C 19: 42,322,399 (GRCm39) N114D probably benign Het
Dennd1b T C 1: 139,013,634 (GRCm39) Y168H Het
Dock6 T C 9: 21,757,858 (GRCm39) D82G probably damaging Het
Eps8 C T 6: 137,505,569 (GRCm39) R53Q possibly damaging Het
Erfl G A 7: 24,627,975 (GRCm39) P185S possibly damaging Het
Fh1 T C 1: 175,437,337 (GRCm39) Y254C probably damaging Het
H2-Q1 T A 17: 35,540,356 (GRCm39) L147Q probably damaging Het
H3c8 T A 13: 23,719,887 (GRCm39) M91K probably benign Het
Hnrnpu A T 1: 178,159,871 (GRCm39) D403E unknown Het
Il34 T C 8: 111,476,122 (GRCm39) K33E probably benign Het
Klhl20 A G 1: 160,934,434 (GRCm39) V195A possibly damaging Het
Lair1 G T 7: 4,031,969 (GRCm39) T46N probably damaging Het
Lama4 A G 10: 38,921,805 (GRCm39) E442G possibly damaging Het
Lifr A T 15: 7,202,963 (GRCm39) I400F possibly damaging Het
Man2a1 T C 17: 64,908,771 (GRCm39) I14T probably benign Het
Or13p10 T A 4: 118,523,489 (GRCm39) C258* probably null Het
Or1ad8 T G 11: 50,898,071 (GRCm39) S91A possibly damaging Het
Or4z4 A C 19: 12,076,190 (GRCm39) V271G possibly damaging Het
Or51h7 A G 7: 102,591,760 (GRCm39) L8P probably benign Het
Or5an10 T A 19: 12,275,639 (GRCm39) I286F probably damaging Het
Or8s10 T C 15: 98,335,419 (GRCm39) I23T probably benign Het
Papss2 G T 19: 32,629,403 (GRCm39) V331F possibly damaging Het
Pcdha11 T C 18: 37,145,909 (GRCm39) S667P probably damaging Het
Pcolce A T 5: 137,607,390 (GRCm39) S75T probably benign Het
Phf20l1 A C 15: 66,502,768 (GRCm39) D716A possibly damaging Het
Pkd1 A G 17: 24,791,595 (GRCm39) E1094G possibly damaging Het
Ppm1h A G 10: 122,618,152 (GRCm39) K104E probably benign Het
Ppp6r3 T C 19: 3,509,750 (GRCm39) Y195C probably benign Het
Pramel6 T A 2: 87,340,031 (GRCm39) L265Q probably benign Het
Prc1 A T 7: 79,961,969 (GRCm39) N489I possibly damaging Het
Prss59 A C 6: 40,905,444 (GRCm39) probably null Het
Psg22 A C 7: 18,460,861 (GRCm39) N497H probably damaging Het
Pum3 T A 19: 27,389,620 (GRCm39) I411F possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rev3l A T 10: 39,739,734 (GRCm39) I2861L possibly damaging Het
Rsf1 A C 7: 97,310,540 (GRCm39) K423N Het
Samd4b A G 7: 28,103,458 (GRCm39) I553T probably benign Het
Septin3 A G 15: 82,170,654 (GRCm39) E216G probably benign Het
Sppl2c T C 11: 104,078,640 (GRCm39) V480A possibly damaging Het
Sppl2c A G 11: 104,078,189 (GRCm39) T330A probably benign Het
Srebf2 A G 15: 82,088,253 (GRCm39) D1073G probably damaging Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tbc1d4 T A 14: 101,845,715 (GRCm39) E61V probably damaging Het
Tnc T A 4: 63,926,983 (GRCm39) T848S probably benign Het
Trmt5 A G 12: 73,329,439 (GRCm39) Y240H probably damaging Het
Trpv1 T C 11: 73,132,583 (GRCm39) V399A possibly damaging Het
Tstd2 T C 4: 46,133,646 (GRCm39) T59A unknown Het
Ubash3a T A 17: 31,456,869 (GRCm39) L510M probably benign Het
Ubr3 T A 2: 69,783,200 (GRCm39) I713N probably damaging Het
Upf3a A G 8: 13,842,166 (GRCm39) E194G probably damaging Het
Usp22 A T 11: 61,065,588 (GRCm39) Y42N probably benign Het
Vav3 T A 3: 109,470,478 (GRCm39) C555S probably damaging Het
Vmn1r210 T A 13: 23,011,684 (GRCm39) M201L probably benign Het
Wdr64 C A 1: 175,554,051 (GRCm39) Q194K 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
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'- CTGATTTGCATCTGCCAGCG -3'
(R):5'- AAACTCTGGCGTTCTTCAGC -3'

Sequencing Primer
(F):5'- TGCACAAACACACTAGGG -3'
(R):5'- GTTCTTCAGCTCGGCCAG -3'
Posted On 2020-09-15