Incidental Mutation 'IGL02981:Dip2a'
ID406554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dip2a
Ensembl Gene ENSMUSG00000020231
Gene Namedisco interacting protein 2 homolog A
SynonymsKiaa0184-hp, 4931420H10Rik, Dip2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02981
Quality Score
Status
Chromosome10
Chromosomal Location76259429-76345291 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76276421 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 1090 (V1090A)
Ref Sequence ENSEMBL: ENSMUSP00000043710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036033
AA Change: V1090A

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: V1090A

DomainStartEndE-ValueType
DMAP_binding 9 122 2.55e-35 SMART
low complexity region 173 208 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
Pfam:AMP-binding 330 806 4.3e-26 PFAM
Pfam:AMP-binding 982 1456 1.4e-52 PFAM
low complexity region 1487 1498 N/A INTRINSIC
low complexity region 1511 1532 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105417
AA Change: V1100A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: V1100A

DomainStartEndE-ValueType
DMAP_binding 9 122 2.55e-35 SMART
low complexity region 173 208 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
Pfam:AMP-binding 330 806 6.6e-28 PFAM
Pfam:AMP-binding 992 1466 7.3e-65 PFAM
low complexity region 1497 1508 N/A INTRINSIC
low complexity region 1521 1542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159807
Predicted Effect probably benign
Transcript: ENSMUST00000160048
AA Change: V1051A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: V1051A

DomainStartEndE-ValueType
DMAP_binding 9 83 7.94e-23 SMART
low complexity region 134 169 N/A INTRINSIC
low complexity region 242 254 N/A INTRINSIC
Pfam:AMP-binding 291 767 5.3e-26 PFAM
Pfam:AMP-binding 943 1417 1.7e-52 PFAM
low complexity region 1448 1459 N/A INTRINSIC
low complexity region 1472 1493 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,320,869 N177S probably benign Het
Abhd12 A G 2: 150,833,124 S392P probably benign Het
Adam23 G A 1: 63,570,953 V705I probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ank2 T G 3: 126,934,562 D794A possibly damaging Het
Aqr T C 2: 114,134,824 probably benign Het
Atp9b A G 18: 80,754,289 V857A possibly damaging Het
Banp T C 8: 121,978,564 Y58H possibly damaging Het
Cacna1e T A 1: 154,471,425 N999Y probably benign Het
Cd14 T C 18: 36,726,479 probably benign Het
Crmp1 T C 5: 37,286,426 I447T probably damaging Het
Ep400 T A 5: 110,691,610 probably benign Het
Ep400 T A 5: 110,756,103 H210L possibly damaging Het
Fbxw26 A G 9: 109,744,794 F97L probably benign Het
Fut8 C A 12: 77,475,038 P484T probably damaging Het
Golph3 A G 15: 12,349,464 E190G probably benign Het
Hectd1 A T 12: 51,768,887 D1472E possibly damaging Het
Hnrnpdl T C 5: 100,037,099 I298V possibly damaging Het
Jakmip2 C A 18: 43,562,530 probably null Het
Kcnj5 G A 9: 32,322,581 T146I probably damaging Het
Lyst T G 13: 13,634,911 F389V probably damaging Het
Myo1b A G 1: 51,778,373 S577P probably damaging Het
Myo3b T C 2: 70,108,625 V114A probably damaging Het
Olfr714 C A 7: 107,074,551 T241N probably damaging Het
Pappa2 C T 1: 158,851,144 G901R probably benign Het
Patz1 T C 11: 3,290,656 Y15H probably damaging Het
Pdp2 T C 8: 104,593,635 W39R probably benign Het
Poc5 T C 13: 96,401,757 probably null Het
Pou3f1 A G 4: 124,658,443 D246G probably damaging Het
Pramel5 T A 4: 144,272,860 Y219F probably benign Het
Prrc2c C T 1: 162,705,179 probably benign Het
Ptpn13 A G 5: 103,528,804 K678E probably damaging Het
Rps2 T C 17: 24,721,724 F271L probably benign Het
Serpina3k C A 12: 104,340,991 Q161K probably benign Het
Serpinb6b A G 13: 32,971,606 T101A probably benign Het
Tprkb T A 6: 85,927,879 D112E probably benign Het
Tubal3 A G 13: 3,933,257 T346A probably benign Het
Vwde A G 6: 13,193,113 F409S possibly damaging Het
Zbtb6 G A 2: 37,429,164 Q251* probably null Het
Other mutations in Dip2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Dip2a APN 10 76313236 missense probably benign
IGL00849:Dip2a APN 10 76292318 missense probably damaging 0.99
IGL01685:Dip2a APN 10 76327749 missense probably damaging 1.00
IGL01825:Dip2a APN 10 76272680 nonsense probably null
IGL02343:Dip2a APN 10 76319478 missense probably benign 0.00
IGL02437:Dip2a APN 10 76298267 missense probably benign 0.09
IGL03122:Dip2a APN 10 76275046 missense probably benign 0.00
IGL03261:Dip2a APN 10 76305148 missense possibly damaging 0.80
R0369:Dip2a UTSW 10 76298787 missense probably damaging 1.00
R0522:Dip2a UTSW 10 76321531 missense probably benign 0.03
R0962:Dip2a UTSW 10 76292432 unclassified probably benign
R1164:Dip2a UTSW 10 76276397 missense possibly damaging 0.72
R1309:Dip2a UTSW 10 76279776 missense probably damaging 1.00
R1426:Dip2a UTSW 10 76279820 unclassified probably benign
R1636:Dip2a UTSW 10 76321578 missense probably benign 0.01
R1823:Dip2a UTSW 10 76278502 nonsense probably null
R1830:Dip2a UTSW 10 76317963 missense probably damaging 1.00
R1876:Dip2a UTSW 10 76318091 missense probably damaging 1.00
R2284:Dip2a UTSW 10 76313193 missense probably benign 0.01
R2369:Dip2a UTSW 10 76313196 missense probably benign
R4050:Dip2a UTSW 10 76278607 missense probably damaging 1.00
R4089:Dip2a UTSW 10 76278489 splice site probably null
R4231:Dip2a UTSW 10 76319470 missense probably damaging 1.00
R4715:Dip2a UTSW 10 76296406 missense probably benign 0.34
R4752:Dip2a UTSW 10 76276657 missense probably damaging 1.00
R4846:Dip2a UTSW 10 76321493 missense probably damaging 1.00
R4849:Dip2a UTSW 10 76294533 missense probably damaging 1.00
R4892:Dip2a UTSW 10 76280759 missense probably benign 0.02
R4998:Dip2a UTSW 10 76319556 nonsense probably null
R5068:Dip2a UTSW 10 76318043 missense possibly damaging 0.82
R5141:Dip2a UTSW 10 76270453 missense probably damaging 1.00
R5253:Dip2a UTSW 10 76299997 missense probably damaging 1.00
R5304:Dip2a UTSW 10 76294523 missense possibly damaging 0.67
R5324:Dip2a UTSW 10 76296393 missense probably damaging 1.00
R5369:Dip2a UTSW 10 76292360 missense probably damaging 1.00
R6272:Dip2a UTSW 10 76286407 makesense probably null
R6884:Dip2a UTSW 10 76272532 critical splice donor site probably null
R7143:Dip2a UTSW 10 76297791 missense probably damaging 1.00
R7247:Dip2a UTSW 10 76272532 critical splice donor site probably null
R7252:Dip2a UTSW 10 76273202 missense not run
R7327:Dip2a UTSW 10 76272562 missense probably benign 0.41
R7334:Dip2a UTSW 10 76274246 missense possibly damaging 0.91
R7349:Dip2a UTSW 10 76285592 missense probably damaging 1.00
R7360:Dip2a UTSW 10 76278560 missense probably damaging 1.00
R7513:Dip2a UTSW 10 76313235 missense probably benign
Z1088:Dip2a UTSW 10 76285628 missense probably benign 0.06
Posted On2016-08-02