Incidental Mutation 'R1906:Adnp'
ID 214348
Institutional Source Beutler Lab
Gene Symbol Adnp
Ensembl Gene ENSMUSG00000051149
Gene Name activity-dependent neuroprotective protein
Synonyms
MMRRC Submission 039925-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1906 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 168022906-168049032 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 168024287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1003 (S1003T)
Ref Sequence ENSEMBL: ENSMUSP00000085316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057793] [ENSMUST00000088001] [ENSMUST00000138667]
AlphaFold Q9Z103
Predicted Effect probably benign
Transcript: ENSMUST00000057793
AA Change: S1003T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149
AA Change: S1003T

DomainStartEndE-ValueType
ZnF_C2H2 74 97 6.57e0 SMART
ZnF_C2H2 107 129 1.77e1 SMART
low complexity region 130 141 N/A INTRINSIC
ZnF_C2H2 165 188 1.29e1 SMART
ZnF_C2H2 221 244 1.4e1 SMART
low complexity region 423 437 N/A INTRINSIC
ZnF_C2H2 446 468 8.62e1 SMART
ZnF_C2H2 488 509 2.54e1 SMART
ZnF_C2H2 511 534 1.03e-2 SMART
low complexity region 582 596 N/A INTRINSIC
ZnF_C2H2 621 646 1.27e2 SMART
HOX 756 817 2.95e-6 SMART
low complexity region 957 970 N/A INTRINSIC
low complexity region 1012 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088001
AA Change: S1003T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149
AA Change: S1003T

DomainStartEndE-ValueType
ZnF_C2H2 74 97 6.57e0 SMART
ZnF_C2H2 107 129 1.77e1 SMART
low complexity region 130 141 N/A INTRINSIC
ZnF_C2H2 165 188 1.29e1 SMART
ZnF_C2H2 221 244 1.4e1 SMART
low complexity region 423 437 N/A INTRINSIC
ZnF_C2H2 446 468 8.62e1 SMART
ZnF_C2H2 488 509 2.54e1 SMART
ZnF_C2H2 511 534 1.03e-2 SMART
low complexity region 582 596 N/A INTRINSIC
ZnF_C2H2 621 646 1.27e2 SMART
HOX 756 817 2.95e-6 SMART
low complexity region 957 970 N/A INTRINSIC
low complexity region 1012 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138667
SMART Domains Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 24 240 1.1e-13 PFAM
Pfam:Glyco_tranf_2_2 28 153 8.4e-10 PFAM
Pfam:Glycos_transf_2 28 199 3.8e-40 PFAM
Pfam:Glyco_transf_21 87 200 1.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175182
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a protein family characterized by nine zinc finger motifs followed by a homeobox domain. In vitro studies demonstrate that the encoded protein interacts with the brahma-related gene1-associated or hBRM factors (BAF) gene expression regulating complex, components of the protein translation machinery, and microtubule-associated proteins. This gene has been implicated in neuroprotection through various processes that include chromatin remodeling, splicing, cytoskeletal reorganization, and autophagy. Homozygous mutant knockout mice display embryonic lethality with defects in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Developmental defects including the failure of the cranial neural tube to close lead to embryonic death between E8.5 and E9. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,072,984 (GRCm39) T923I probably benign Het
Abhd13 T A 8: 10,038,170 (GRCm39) C256S probably benign Het
Adamts5 C T 16: 85,665,573 (GRCm39) W576* probably null Het
AI987944 C T 7: 41,024,550 (GRCm39) R146Q probably benign Het
Apol6 G T 15: 76,935,060 (GRCm39) V110F probably damaging Het
Arhgap27 A G 11: 103,223,751 (GRCm39) F651L probably damaging Het
Atm T C 9: 53,417,868 (GRCm39) D813G probably damaging Het
Casd1 T A 6: 4,641,979 (GRCm39) I752N probably damaging Het
Cdr2 A G 7: 120,581,224 (GRCm39) Y18H probably damaging Het
Cntn4 T C 6: 106,330,607 (GRCm39) F75S probably benign Het
Col20a1 G A 2: 180,640,490 (GRCm39) R549H probably benign Het
Col28a1 A T 6: 7,999,644 (GRCm39) N1024K probably benign Het
Dnah10 T A 5: 124,878,048 (GRCm39) V2654D probably damaging Het
Dnph1 A T 17: 46,807,787 (GRCm39) I18F probably damaging Het
Dsn1 G A 2: 156,838,163 (GRCm39) R334W probably damaging Het
Egf T A 3: 129,518,873 (GRCm39) K325N probably benign Het
Eps15 T G 4: 109,181,398 (GRCm39) S311A possibly damaging Het
Fmo3 G T 1: 162,794,475 (GRCm39) D198E probably damaging Het
Folh1 C G 7: 86,391,374 (GRCm39) probably null Het
Foxn1 A G 11: 78,262,636 (GRCm39) probably null Het
Gm10604 T G 4: 11,979,989 (GRCm39) D105A unknown Het
Gpx8 A G 13: 113,182,110 (GRCm39) C108R probably damaging Het
Herc2 A T 7: 55,764,612 (GRCm39) I1013L probably benign Het
Hyal4 T G 6: 24,756,110 (GRCm39) N109K probably damaging Het
Il22ra1 T G 4: 135,478,544 (GRCm39) C538W probably damaging Het
Ints13 A T 6: 146,453,868 (GRCm39) probably null Het
Krt75 T A 15: 101,481,801 (GRCm39) T156S possibly damaging Het
Lama2 A C 10: 26,932,523 (GRCm39) probably null Het
Lifr G T 15: 7,217,612 (GRCm39) V847L probably damaging Het
Lmf1 T A 17: 25,831,309 (GRCm39) I185N probably damaging Het
Mast1 G A 8: 85,642,895 (GRCm39) R967C probably damaging Het
Ms4a15 T C 19: 10,960,644 (GRCm39) I94V probably benign Het
Mycbpap A T 11: 94,396,447 (GRCm39) M131K probably benign Het
Ncor1 A T 11: 62,240,211 (GRCm39) M920K possibly damaging Het
Neb A G 2: 52,198,538 (GRCm39) Y437H probably damaging Het
Npy5r A T 8: 67,134,125 (GRCm39) W223R probably damaging Het
Or10ak11 G A 4: 118,687,467 (GRCm39) H56Y probably damaging Het
Or10x4 C A 1: 174,218,730 (GRCm39) L32M probably damaging Het
Or4c114 A G 2: 88,905,414 (GRCm39) V7A possibly damaging Het
Or6c6c T G 10: 129,541,365 (GRCm39) V206G probably benign Het
Polg T C 7: 79,110,070 (GRCm39) K353E probably damaging Het
Proz C G 8: 13,123,686 (GRCm39) probably null Het
Pus7 T C 5: 23,983,209 (GRCm39) D86G probably damaging Het
Rhpn1 T C 15: 75,583,673 (GRCm39) V386A probably benign Het
Rigi T C 4: 40,206,054 (GRCm39) K846R probably benign Het
Sptbn4 A G 7: 27,090,856 (GRCm39) probably null Het
Srp68 A T 11: 116,141,587 (GRCm39) I424N probably damaging Het
Stard9 A G 2: 120,526,908 (GRCm39) E1055G probably benign Het
Taf4b A G 18: 14,955,159 (GRCm39) I571V probably benign Het
Tas2r107 T C 6: 131,636,951 (GRCm39) M33V probably benign Het
Thap12 T C 7: 98,365,947 (GRCm39) L705P probably damaging Het
Tom1 T C 8: 75,778,218 (GRCm39) V100A probably damaging Het
Tox3 A G 8: 90,975,057 (GRCm39) probably benign Het
Vmn2r82 A G 10: 79,232,344 (GRCm39) N781S probably damaging Het
Vwa5b1 A T 4: 138,327,547 (GRCm39) V343E possibly damaging Het
Zbbx A G 3: 74,979,047 (GRCm39) Y467H probably damaging Het
Zbtb46 G A 2: 181,065,632 (GRCm39) R173W probably damaging Het
Zfp112 A G 7: 23,821,720 (GRCm39) D20G probably benign Het
Zfp777 A C 6: 48,018,995 (GRCm39) M313R probably damaging Het
Other mutations in Adnp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Adnp APN 2 168,024,482 (GRCm39) missense probably benign
IGL00500:Adnp APN 2 168,025,243 (GRCm39) missense possibly damaging 0.85
IGL01604:Adnp APN 2 168,026,258 (GRCm39) missense probably damaging 0.99
IGL01967:Adnp APN 2 168,025,339 (GRCm39) missense possibly damaging 0.85
IGL02470:Adnp APN 2 168,025,114 (GRCm39) missense probably damaging 0.99
C9142:Adnp UTSW 2 168,026,327 (GRCm39) missense probably damaging 0.99
R0893:Adnp UTSW 2 168,025,647 (GRCm39) missense possibly damaging 0.85
R1167:Adnp UTSW 2 168,026,420 (GRCm39) missense probably benign 0.11
R1182:Adnp UTSW 2 168,026,716 (GRCm39) missense possibly damaging 0.77
R1480:Adnp UTSW 2 168,025,454 (GRCm39) missense probably damaging 0.99
R1505:Adnp UTSW 2 168,025,661 (GRCm39) missense possibly damaging 0.93
R3711:Adnp UTSW 2 168,026,743 (GRCm39) missense probably damaging 0.98
R3943:Adnp UTSW 2 168,026,980 (GRCm39) missense possibly damaging 0.92
R4440:Adnp UTSW 2 168,026,721 (GRCm39) missense possibly damaging 0.92
R4686:Adnp UTSW 2 168,024,309 (GRCm39) missense possibly damaging 0.78
R4916:Adnp UTSW 2 168,029,537 (GRCm39) missense possibly damaging 0.91
R5072:Adnp UTSW 2 168,024,921 (GRCm39) missense probably damaging 0.96
R5312:Adnp UTSW 2 168,026,108 (GRCm39) missense probably benign
R5393:Adnp UTSW 2 168,024,869 (GRCm39) missense possibly damaging 0.95
R5598:Adnp UTSW 2 168,025,645 (GRCm39) missense probably damaging 0.99
R6230:Adnp UTSW 2 168,024,452 (GRCm39) missense probably benign
R7165:Adnp UTSW 2 168,024,287 (GRCm39) missense probably benign 0.07
R7176:Adnp UTSW 2 168,024,578 (GRCm39) missense probably benign
R7238:Adnp UTSW 2 168,025,887 (GRCm39) missense probably damaging 1.00
R7254:Adnp UTSW 2 168,025,918 (GRCm39) missense probably damaging 0.99
R7581:Adnp UTSW 2 168,025,386 (GRCm39) missense probably damaging 0.96
R7676:Adnp UTSW 2 168,025,367 (GRCm39) nonsense probably null
R7863:Adnp UTSW 2 168,031,270 (GRCm39) missense possibly damaging 0.91
R8098:Adnp UTSW 2 168,024,452 (GRCm39) missense probably benign
R8196:Adnp UTSW 2 168,025,092 (GRCm39) missense probably benign
R8970:Adnp UTSW 2 168,031,290 (GRCm39) missense possibly damaging 0.91
R9153:Adnp UTSW 2 168,026,580 (GRCm39) missense possibly damaging 0.96
R9154:Adnp UTSW 2 168,026,580 (GRCm39) missense possibly damaging 0.96
R9228:Adnp UTSW 2 168,026,798 (GRCm39) missense probably damaging 0.98
R9256:Adnp UTSW 2 168,025,945 (GRCm39) missense probably damaging 1.00
R9268:Adnp UTSW 2 168,031,233 (GRCm39) missense possibly damaging 0.86
R9434:Adnp UTSW 2 168,026,377 (GRCm39) missense probably damaging 0.99
R9517:Adnp UTSW 2 168,024,866 (GRCm39) missense possibly damaging 0.93
R9621:Adnp UTSW 2 168,024,663 (GRCm39) missense probably benign 0.22
R9669:Adnp UTSW 2 168,026,918 (GRCm39) missense possibly damaging 0.91
R9737:Adnp UTSW 2 168,026,918 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GTCCTCACTGTCAATTGTGC -3'
(R):5'- TTTGACTGAGGAACCAGCC -3'

Sequencing Primer
(F):5'- GTCAATTGTGCTATTCTGCCAC -3'
(R):5'- GCCAAATTAATGCATGATGCCTCTG -3'
Posted On 2014-07-14