Incidental Mutation 'IGL02684:Gdap2'
ID 303470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdap2
Ensembl Gene ENSMUSG00000027865
Gene Name ganglioside-induced differentiation-associated-protein 2
Synonyms D3Ertd801e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02684
Quality Score
Status
Chromosome 3
Chromosomal Location 100069697-100114297 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100078336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 100 (D100G)
Ref Sequence ENSEMBL: ENSMUSP00000102610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029459] [ENSMUST00000106997]
AlphaFold Q9DBL2
Predicted Effect probably benign
Transcript: ENSMUST00000029459
AA Change: D100G

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: D100G

DomainStartEndE-ValueType
Pfam:Macro 72 185 1.3e-30 PFAM
low complexity region 265 274 N/A INTRINSIC
SEC14 334 482 5.41e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106997
AA Change: D100G

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: D100G

DomainStartEndE-ValueType
Pfam:Macro 72 185 4.4e-32 PFAM
low complexity region 265 274 N/A INTRINSIC
SEC14 334 482 5.41e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150223
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,532,020 (GRCm39) L185* probably null Het
Aadacl4fm5 A G 4: 144,504,755 (GRCm39) probably benign Het
Actrt3 A T 3: 30,653,840 (GRCm39) D53E probably benign Het
Ankrd34b T C 13: 92,575,016 (GRCm39) S83P probably damaging Het
Asap1 A G 15: 63,966,018 (GRCm39) V1029A probably benign Het
Blk T C 14: 63,617,143 (GRCm39) E288G probably benign Het
Cep192 T G 18: 67,967,634 (GRCm39) V706G probably damaging Het
Chd2 T C 7: 73,125,097 (GRCm39) K908E probably damaging Het
Dnm1l A T 16: 16,139,521 (GRCm39) I391N possibly damaging Het
Fmn1 A G 2: 113,355,622 (GRCm39) R688G unknown Het
Gm43638 T C 5: 87,610,769 (GRCm39) I522V possibly damaging Het
Gsap A T 5: 21,447,801 (GRCm39) probably null Het
Hoxd12 A G 2: 74,505,905 (GRCm39) S159G probably benign Het
Ints7 A G 1: 191,345,749 (GRCm39) probably null Het
Iqsec3 G A 6: 121,389,900 (GRCm39) Q524* probably null Het
Klra10 T A 6: 130,258,845 (GRCm39) H14L possibly damaging Het
Lratd1 T C 12: 14,200,646 (GRCm39) D27G probably damaging Het
Mettl15 T C 2: 108,961,925 (GRCm39) E228G probably damaging Het
Or51v8 T C 7: 103,319,591 (GRCm39) M216V probably benign Het
Or9s18 G A 13: 65,300,210 (GRCm39) M57I probably damaging Het
Pabpc1l A G 2: 163,873,197 (GRCm39) N156D probably benign Het
Pkhd1l1 G T 15: 44,379,605 (GRCm39) probably null Het
Pm20d1 T A 1: 131,732,697 (GRCm39) N345K probably benign Het
Rasgrp1 A G 2: 117,113,057 (GRCm39) V785A probably benign Het
Sos2 A G 12: 69,643,440 (GRCm39) L980S probably damaging Het
Stam2 A T 2: 52,609,947 (GRCm39) H56Q probably damaging Het
Trpm6 T A 19: 18,779,571 (GRCm39) probably benign Het
Trpm7 A T 2: 126,688,079 (GRCm39) D249E probably damaging Het
Vmn1r203 A T 13: 22,708,539 (GRCm39) T107S possibly damaging Het
Vmn2r55 A G 7: 12,404,887 (GRCm39) L172P probably damaging Het
Vrtn A G 12: 84,696,923 (GRCm39) R558G probably benign Het
Zfp977 A T 7: 42,232,439 (GRCm39) D7E probably damaging Het
Other mutations in Gdap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Gdap2 APN 3 100,078,243 (GRCm39) missense possibly damaging 0.62
IGL02342:Gdap2 APN 3 100,085,632 (GRCm39) missense probably damaging 1.00
R0128:Gdap2 UTSW 3 100,109,311 (GRCm39) missense probably damaging 1.00
R0130:Gdap2 UTSW 3 100,109,311 (GRCm39) missense probably damaging 1.00
R0344:Gdap2 UTSW 3 100,085,572 (GRCm39) missense probably damaging 1.00
R0588:Gdap2 UTSW 3 100,077,317 (GRCm39) start codon destroyed probably null 1.00
R1521:Gdap2 UTSW 3 100,101,931 (GRCm39) missense possibly damaging 0.61
R2168:Gdap2 UTSW 3 100,095,199 (GRCm39) missense probably benign
R3040:Gdap2 UTSW 3 100,095,351 (GRCm39) critical splice donor site probably null
R4793:Gdap2 UTSW 3 100,078,234 (GRCm39) missense probably damaging 1.00
R5406:Gdap2 UTSW 3 100,098,991 (GRCm39) missense probably damaging 1.00
R5438:Gdap2 UTSW 3 100,085,629 (GRCm39) missense probably damaging 1.00
R5987:Gdap2 UTSW 3 100,109,572 (GRCm39) intron probably benign
R6816:Gdap2 UTSW 3 100,099,021 (GRCm39) critical splice donor site probably null
R7307:Gdap2 UTSW 3 100,109,349 (GRCm39) missense unknown
R7424:Gdap2 UTSW 3 100,109,382 (GRCm39) missense unknown
R7673:Gdap2 UTSW 3 100,099,015 (GRCm39) missense probably benign 0.01
R8221:Gdap2 UTSW 3 100,109,611 (GRCm39) missense unknown
R9414:Gdap2 UTSW 3 100,090,071 (GRCm39) critical splice donor site probably null
R9562:Gdap2 UTSW 3 100,099,006 (GRCm39) missense possibly damaging 0.74
R9599:Gdap2 UTSW 3 100,078,264 (GRCm39) missense probably damaging 1.00
R9691:Gdap2 UTSW 3 100,109,441 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16