Incidental Mutation 'R0128:Gdap2'
ID 60502
Institutional Source Beutler Lab
Gene Symbol Gdap2
Ensembl Gene ENSMUSG00000027865
Gene Name ganglioside-induced differentiation-associated-protein 2
Synonyms D3Ertd801e
MMRRC Submission 038413-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0128 (G1)
Quality Score 113
Status Validated
Chromosome 3
Chromosomal Location 100162381-100206981 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100201995 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 443 (T443A)
Ref Sequence ENSEMBL: ENSMUSP00000102610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029459] [ENSMUST00000106997] [ENSMUST00000197797]
AlphaFold Q9DBL2
Predicted Effect probably damaging
Transcript: ENSMUST00000029459
AA Change: T443A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: T443A

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 damaging
Transcript: ENSMUST00000106997
AA Change: T443A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: T443A

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 probably benign
Transcript: ENSMUST00000197797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200036
Meta Mutation Damage Score 0.2147 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.6%
  • 10x: 93.0%
  • 20x: 79.3%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,575,639 (GRCm38) probably benign Het
Abcd4 T G 12: 84,612,352 (GRCm38) Q210P possibly damaging Het
Ablim2 G A 5: 35,809,176 (GRCm38) probably benign Het
Actl6b A G 5: 137,555,065 (GRCm38) N113S probably benign Het
Actn3 A T 19: 4,871,615 (GRCm38) V179E probably damaging Het
Aff4 C A 11: 53,415,466 (GRCm38) T1145N probably damaging Het
Ankrd42 G A 7: 92,591,859 (GRCm38) Q431* probably null Het
Anxa9 A G 3: 95,302,422 (GRCm38) S129P probably benign Het
Arfgef2 T G 2: 166,835,719 (GRCm38) I88S probably damaging Het
Asap3 C A 4: 136,234,604 (GRCm38) N285K probably damaging Het
Atp6v0a2 A G 5: 124,713,184 (GRCm38) N477S probably damaging Het
Atp7b C T 8: 22,028,172 (GRCm38) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm38) probably null Het
C87436 G A 6: 86,469,827 (GRCm38) G533D probably damaging Het
Ccdc138 T A 10: 58,528,360 (GRCm38) I314N probably damaging Het
Ccs A G 19: 4,825,626 (GRCm38) F237S probably damaging Het
Ccz1 T G 5: 144,009,294 (GRCm38) probably benign Het
Cdcp2 C T 4: 107,106,707 (GRCm38) probably benign Het
Chd1 A G 17: 17,393,567 (GRCm38) N531S probably damaging Het
Clptm1 A T 7: 19,635,007 (GRCm38) F476I probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm38) P568L unknown Het
Cped1 T A 6: 22,121,039 (GRCm38) Y373N probably benign Het
Cr2 A T 1: 195,166,231 (GRCm38) V328D probably damaging Het
D630045J12Rik A T 6: 38,149,771 (GRCm38) probably benign Het
Dcdc2a A T 13: 25,187,672 (GRCm38) probably benign Het
Dlg1 G T 16: 31,858,065 (GRCm38) probably null Het
Epb41l5 A C 1: 119,549,902 (GRCm38) V705G possibly damaging Het
Ergic3 C A 2: 156,011,140 (GRCm38) R43S possibly damaging Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,604,092 (GRCm38) Y928H probably damaging Het
Fyn C T 10: 39,511,982 (GRCm38) T78M probably benign Het
Ghrl A T 6: 113,717,168 (GRCm38) probably benign Het
Gm1141 T C X: 71,939,555 (GRCm38) C378R possibly damaging Het
Gm12166 A G 11: 46,052,293 (GRCm38) M1T probably null Het
Gm4787 T A 12: 81,377,747 (GRCm38) K546* probably null Het
Gm498 G T 7: 143,891,755 (GRCm38) G178C probably damaging Het
Gm6576 C G 15: 27,026,000 (GRCm38) noncoding transcript Het
Got1 C T 19: 43,524,377 (GRCm38) D27N probably benign Het
Gucy2c C T 6: 136,704,249 (GRCm38) V946I probably damaging Het
Hectd4 T C 5: 121,349,243 (GRCm38) Y3434H possibly damaging Het
Hp1bp3 C T 4: 138,237,209 (GRCm38) S348F probably damaging Het
Itpr1 A G 6: 108,471,209 (GRCm38) probably benign Het
Kctd1 G A 18: 14,974,180 (GRCm38) P743S probably benign Het
Klhl23 T C 2: 69,833,966 (GRCm38) V553A probably damaging Het
Krt24 T C 11: 99,280,267 (GRCm38) D495G probably damaging Het
L3hypdh C T 12: 72,077,143 (GRCm38) probably null Het
Lipo3 C T 19: 33,557,106 (GRCm38) probably null Het
Lman2l G T 1: 36,424,864 (GRCm38) S171* probably null Het
Lrp1b T C 2: 41,511,508 (GRCm38) D378G probably damaging Het
Map3k4 T A 17: 12,248,063 (GRCm38) D1104V probably damaging Het
Mpeg1 T C 19: 12,461,223 (GRCm38) V15A probably benign Het
Narf C T 11: 121,250,836 (GRCm38) R356C probably damaging Het
Nebl T A 2: 17,393,023 (GRCm38) Q487H possibly damaging Het
Olfm5 G A 7: 104,160,926 (GRCm38) A76V probably benign Het
Olfr1090 T C 2: 86,753,887 (GRCm38) M284V probably benign Het
Olfr339 T A 2: 36,422,287 (GRCm38) D296E probably benign Het
Olfr372 C T 8: 72,058,400 (GRCm38) T240M probably damaging Het
Olfr656 A T 7: 104,618,581 (GRCm38) I301F probably damaging Het
Olfr992 T A 2: 85,399,961 (GRCm38) S191C probably damaging Het
Palb2 A T 7: 122,128,166 (GRCm38) Y160* probably null Het
Paxip1 C T 5: 27,744,185 (GRCm38) probably benign Het
Pclo A G 5: 14,679,797 (GRCm38) probably benign Het
Pdcd11 G A 19: 47,119,862 (GRCm38) V1223I probably benign Het
Pde6c T C 19: 38,169,365 (GRCm38) probably benign Het
Prr12 A G 7: 45,050,039 (GRCm38) probably benign Het
Prss39 T A 1: 34,502,200 (GRCm38) probably benign Het
Samd5 A G 10: 9,674,939 (GRCm38) W9R probably damaging Het
Sfr1 A G 19: 47,735,018 (GRCm38) *320W probably null Het
Sh3bp4 A G 1: 89,145,314 (GRCm38) N628S possibly damaging Het
Sim1 A T 10: 50,907,961 (GRCm38) I104F probably damaging Het
Slc1a3 T C 15: 8,636,209 (GRCm38) M519V probably benign Het
Smcp T A 3: 92,584,520 (GRCm38) T7S unknown Het
Sp4 A G 12: 118,300,816 (GRCm38) probably benign Het
Spag9 T A 11: 94,093,539 (GRCm38) I327N probably damaging Het
Thbs4 G T 13: 92,754,410 (GRCm38) H850N probably benign Het
Ubap2l A T 3: 90,021,373 (GRCm38) S478T possibly damaging Het
Unc79 A G 12: 103,088,434 (GRCm38) probably benign Het
Vmn2r85 A G 10: 130,419,185 (GRCm38) probably benign Het
Wrap73 A G 4: 154,142,500 (GRCm38) D19G possibly damaging Het
Other mutations in Gdap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Gdap2 APN 3 100,170,927 (GRCm38) missense possibly damaging 0.62
IGL02342:Gdap2 APN 3 100,178,316 (GRCm38) missense probably damaging 1.00
IGL02684:Gdap2 APN 3 100,171,020 (GRCm38) missense probably benign 0.13
R0130:Gdap2 UTSW 3 100,201,995 (GRCm38) missense probably damaging 1.00
R0344:Gdap2 UTSW 3 100,178,256 (GRCm38) missense probably damaging 1.00
R0588:Gdap2 UTSW 3 100,170,001 (GRCm38) start codon destroyed probably null 1.00
R1521:Gdap2 UTSW 3 100,194,615 (GRCm38) missense possibly damaging 0.61
R2168:Gdap2 UTSW 3 100,187,883 (GRCm38) missense probably benign
R3040:Gdap2 UTSW 3 100,188,035 (GRCm38) critical splice donor site probably null
R4793:Gdap2 UTSW 3 100,170,918 (GRCm38) missense probably damaging 1.00
R5406:Gdap2 UTSW 3 100,191,675 (GRCm38) missense probably damaging 1.00
R5438:Gdap2 UTSW 3 100,178,313 (GRCm38) missense probably damaging 1.00
R5987:Gdap2 UTSW 3 100,202,256 (GRCm38) intron probably benign
R6816:Gdap2 UTSW 3 100,191,705 (GRCm38) critical splice donor site probably null
R7307:Gdap2 UTSW 3 100,202,033 (GRCm38) missense unknown
R7424:Gdap2 UTSW 3 100,202,066 (GRCm38) missense unknown
R7673:Gdap2 UTSW 3 100,191,699 (GRCm38) missense probably benign 0.01
R8221:Gdap2 UTSW 3 100,202,295 (GRCm38) missense unknown
R9414:Gdap2 UTSW 3 100,182,755 (GRCm38) critical splice donor site probably null
R9562:Gdap2 UTSW 3 100,191,690 (GRCm38) missense possibly damaging 0.74
R9599:Gdap2 UTSW 3 100,170,948 (GRCm38) missense probably damaging 1.00
R9691:Gdap2 UTSW 3 100,202,125 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCCCCGATGATGACACTGTTCTTTC -3'
(R):5'- ATATGCTCACACCTGCTGCTGC -3'

Sequencing Primer
(F):5'- GTGCAACTCACTAATGAACTGC -3'
(R):5'- GCGGCACACCTGCATAC -3'
Posted On 2013-07-24