Incidental Mutation 'R7937:Gdap1'
ID 648781
Institutional Source Beutler Lab
Gene Symbol Gdap1
Ensembl Gene ENSMUSG00000025777
Gene Name ganglioside-induced differentiation-associated-protein 1
Synonyms
MMRRC Submission 045983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7937 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 17215586-17234495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17230177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 203 (K203N)
Ref Sequence ENSEMBL: ENSMUSP00000026879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026879] [ENSMUST00000189736]
AlphaFold O88741
Predicted Effect probably benign
Transcript: ENSMUST00000026879
AA Change: K203N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026879
Gene: ENSMUSG00000025777
AA Change: K203N

DomainStartEndE-ValueType
Pfam:GST_N 24 99 2.8e-15 PFAM
Pfam:GST_N_3 28 105 8.1e-18 PFAM
Pfam:GST_N_2 33 100 2.7e-12 PFAM
Pfam:GST_C 148 287 3.5e-10 PFAM
Pfam:GST_C_2 160 282 5.8e-13 PFAM
Pfam:GST_C_3 164 285 8.5e-10 PFAM
transmembrane domain 292 309 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189736
SMART Domains Protein: ENSMUSP00000140406
Gene: ENSMUSG00000025777

DomainStartEndE-ValueType
SCOP:d1eema2 19 55 4e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele develop motor deficits and a peripheral neuropathy with loss of motor neurons and abnormal neuromuscular junctions. Cultured motor neurons show large and abnormal mitochondria, reduced axon length, changes in the ER cisternae, and altered calcium ion homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 GTTGATCCATACA G 2: 69,154,217 (GRCm39) probably benign Het
Ano6 C A 15: 95,870,470 (GRCm39) T875K probably damaging Het
Armc8 G A 9: 99,418,272 (GRCm39) T94I probably damaging Het
Ash1l C T 3: 88,977,624 (GRCm39) R2685* probably null Het
Bri3bp A T 5: 125,531,395 (GRCm39) N114Y probably damaging Het
Camkk2 G T 5: 122,902,097 (GRCm39) Q71K probably benign Het
Cc2d2b T C 19: 40,765,736 (GRCm39) F49S Het
Cdh10 A G 15: 18,964,335 (GRCm39) T166A probably benign Het
Chd8 A G 14: 52,464,963 (GRCm39) F633L probably benign Het
Clec2m A G 6: 129,307,974 (GRCm39) W32R possibly damaging Het
Cntn5 G A 9: 9,748,450 (GRCm39) T477I probably damaging Het
Cyp2c37 T A 19: 39,982,202 (GRCm39) Y68N probably damaging Het
Dnah2 A T 11: 69,408,511 (GRCm39) L53* probably null Het
Dnajc11 A G 4: 152,034,909 (GRCm39) D44G probably damaging Het
Elovl3 T C 19: 46,123,168 (GRCm39) F248S probably damaging Het
Etfdh A G 3: 79,517,123 (GRCm39) L422P probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fgd4 A G 16: 16,287,637 (GRCm39) Y355H probably damaging Het
Fgfr2 A G 7: 129,820,823 (GRCm39) M237T probably damaging Het
Glis1 A G 4: 107,484,723 (GRCm39) D594G possibly damaging Het
Gm4787 T A 12: 81,424,679 (GRCm39) H493L probably benign Het
Gpatch3 G T 4: 133,310,308 (GRCm39) V418L probably damaging Het
Greb1 T C 12: 16,766,670 (GRCm39) N376S probably damaging Het
Hspg2 A G 4: 137,278,243 (GRCm39) Q3010R probably benign Het
Ice2 T A 9: 69,318,067 (GRCm39) F223I possibly damaging Het
Marchf11 A G 15: 26,409,323 (GRCm39) T341A probably damaging Het
Mllt10 A G 2: 18,210,895 (GRCm39) K770E probably damaging Het
Mug1 A G 6: 121,838,128 (GRCm39) T453A probably benign Het
Myh15 C T 16: 48,976,009 (GRCm39) T1359I probably benign Het
Nbn A G 4: 15,958,080 (GRCm39) K3E probably damaging Het
Nlrp4a T C 7: 26,163,571 (GRCm39) F913L probably benign Het
Nlrx1 G T 9: 44,176,086 (GRCm39) A48D probably damaging Het
Noc3l C G 19: 38,783,447 (GRCm39) G643A possibly damaging Het
Or4f14b T C 2: 111,774,875 (GRCm39) R309G probably benign Het
Or8c17 T A 9: 38,180,344 (GRCm39) N170K probably benign Het
Pde6b G T 5: 108,567,639 (GRCm39) probably null Het
Phactr1 A G 13: 43,231,205 (GRCm39) I247V unknown Het
Pid1 G T 1: 84,093,745 (GRCm39) Q48K probably benign Het
Ppfia2 A G 10: 106,699,233 (GRCm39) N794S probably benign Het
Ppox G A 1: 171,107,546 (GRCm39) S123L possibly damaging Het
Ptprd A C 4: 76,013,772 (GRCm39) D778E probably benign Het
Rgs13 A G 1: 144,016,600 (GRCm39) Y48H probably damaging Het
Rgs17 T A 10: 5,783,078 (GRCm39) M190L probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Scaf8 C T 17: 3,247,482 (GRCm39) P935L probably damaging Het
Slc22a6 T C 19: 8,601,253 (GRCm39) I435T probably benign Het
Slc34a1 A G 13: 23,996,648 (GRCm39) H51R probably benign Het
Snx4 T C 16: 33,112,199 (GRCm39) L378P probably damaging Het
Spns1 A G 7: 125,973,226 (GRCm39) L155P probably damaging Het
St8sia4 T C 1: 95,581,320 (GRCm39) T141A possibly damaging Het
Syt10 A T 15: 89,666,820 (GRCm39) S510R probably damaging Het
Tmprss11d A T 5: 86,457,349 (GRCm39) F241L probably benign Het
Tnfrsf21 A T 17: 43,348,816 (GRCm39) T143S probably benign Het
Trim72 A G 7: 127,609,491 (GRCm39) N431S probably benign Het
Usp43 A G 11: 67,746,615 (GRCm39) S1031P probably damaging Het
Wdr75 A G 1: 45,858,799 (GRCm39) Y656C probably benign Het
Zfp28 T C 7: 6,396,785 (GRCm39) C407R probably damaging Het
Zfp804b C T 5: 6,821,866 (GRCm39) R399Q possibly damaging Het
Zfp949 T A 9: 88,451,323 (GRCm39) C298S probably damaging Het
Other mutations in Gdap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02424:Gdap1 APN 1 17,231,402 (GRCm39) missense probably damaging 1.00
IGL02570:Gdap1 APN 1 17,215,709 (GRCm39) missense probably benign 0.27
IGL03269:Gdap1 APN 1 17,231,729 (GRCm39) missense probably benign 0.00
R0992:Gdap1 UTSW 1 17,217,329 (GRCm39) missense probably damaging 1.00
R1480:Gdap1 UTSW 1 17,215,781 (GRCm39) missense probably damaging 1.00
R1518:Gdap1 UTSW 1 17,217,169 (GRCm39) missense possibly damaging 0.54
R2061:Gdap1 UTSW 1 17,215,689 (GRCm39) unclassified probably benign
R3983:Gdap1 UTSW 1 17,230,131 (GRCm39) intron probably benign
R4892:Gdap1 UTSW 1 17,230,218 (GRCm39) missense possibly damaging 0.61
R5765:Gdap1 UTSW 1 17,231,650 (GRCm39) missense probably benign
R6471:Gdap1 UTSW 1 17,230,249 (GRCm39) missense possibly damaging 0.50
R7574:Gdap1 UTSW 1 17,231,665 (GRCm39) missense possibly damaging 0.59
R7689:Gdap1 UTSW 1 17,231,623 (GRCm39) missense probably damaging 1.00
R7895:Gdap1 UTSW 1 17,231,368 (GRCm39) missense probably damaging 1.00
R9335:Gdap1 UTSW 1 17,231,389 (GRCm39) missense probably benign 0.05
R9378:Gdap1 UTSW 1 17,227,353 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGATCTCACAGCTGGACTATTTC -3'
(R):5'- TGTCTCTGAATTGAAACAACCCC -3'

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