Incidental Mutation 'R0980:Gapt'
ID 97059
Institutional Source Beutler Lab
Gene Symbol Gapt
Ensembl Gene ENSMUSG00000046006
Gene Name Grb2-binding adaptor, transmembrane
Synonyms 9830130M13Rik
MMRRC Submission 039106-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0980 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 110489150-110493733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 110490273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 130 (T130R)
Ref Sequence ENSEMBL: ENSMUSP00000153170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058806] [ENSMUST00000224534]
AlphaFold Q8CB93
Predicted Effect probably damaging
Transcript: ENSMUST00000058806
AA Change: T130R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053775
Gene: ENSMUSG00000046006
AA Change: T130R

DomainStartEndE-ValueType
Pfam:GAPT 1 155 2.5e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224534
AA Change: T130R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.1443 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased B cell proliferation, marginal zone B cell numbers and concentrations of IgM, IgG2b and IgG3. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a T C 9: 65,424,253 (GRCm39) H20R probably damaging Het
Arfgef3 T C 10: 18,467,866 (GRCm39) E1778G possibly damaging Het
Arhgef18 C T 8: 3,439,095 (GRCm39) probably benign Het
Blm A T 7: 80,149,706 (GRCm39) probably null Het
Ccr6 A G 17: 8,474,846 (GRCm39) E17G probably benign Het
Cep126 T C 9: 8,100,720 (GRCm39) T605A probably damaging Het
Cnga4 C A 7: 105,057,213 (GRCm39) P439T probably damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Cyp2a5 A G 7: 26,538,431 (GRCm39) probably null Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Elp3 T C 14: 65,815,402 (GRCm39) T197A probably damaging Het
Etl4 A G 2: 20,806,378 (GRCm39) D1200G probably damaging Het
Gprin1 T C 13: 54,888,214 (GRCm39) D20G possibly damaging Het
Hltf T C 3: 20,145,665 (GRCm39) S432P probably benign Het
Immt T C 6: 71,851,310 (GRCm39) V54A probably benign Het
Jhy T G 9: 40,856,133 (GRCm39) Y118S possibly damaging Het
Kif23 C A 9: 61,844,046 (GRCm39) K154N possibly damaging Het
Krt79 T C 15: 101,846,442 (GRCm39) T169A probably damaging Het
Llgl2 A G 11: 115,740,827 (GRCm39) E443G probably damaging Het
Ltbp4 A T 7: 27,023,587 (GRCm39) C786S probably damaging Het
Mme A T 3: 63,247,550 (GRCm39) E278D probably benign Het
Nt5c2 G T 19: 46,887,317 (GRCm39) Q162K probably benign Het
Obscn A G 11: 58,888,887 (GRCm39) V2109A possibly damaging Het
Or5p64 GGTAG GG 7: 107,855,229 (GRCm39) probably benign Het
Or8k28 T C 2: 86,285,704 (GRCm39) T304A probably benign Het
Or8k38 T A 2: 86,488,209 (GRCm39) I198L probably benign Het
Osmr G T 15: 6,881,921 (GRCm39) N74K probably benign Het
Pes1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 11: 3,927,636 (GRCm39) probably benign Het
Pgd A T 4: 149,238,768 (GRCm39) probably null Het
Pld1 T A 3: 28,178,724 (GRCm39) S873T probably damaging Het
Polk A T 13: 96,620,272 (GRCm39) C664S probably benign Het
Proca1 A C 11: 78,095,773 (GRCm39) H135P probably benign Het
Ptgs2 A C 1: 149,980,061 (GRCm39) D333A probably damaging Het
Rexo5 T C 7: 119,423,035 (GRCm39) V289A probably damaging Het
Rnf125 T A 18: 21,112,117 (GRCm39) C49* probably null Het
Rprd2 C A 3: 95,673,216 (GRCm39) R729L probably damaging Het
Sipa1l1 A G 12: 82,388,994 (GRCm39) S407G possibly damaging Het
Slc35a4 C A 18: 36,815,834 (GRCm39) N221K probably damaging Het
Sorcs1 T C 19: 50,220,761 (GRCm39) D563G probably benign Het
Stk39 G T 2: 68,222,515 (GRCm39) T183K probably damaging Het
Tc2n T A 12: 101,644,835 (GRCm39) K264* probably null Het
Trim23 C T 13: 104,324,635 (GRCm39) R238W probably damaging Het
Trim66 C A 7: 109,054,877 (GRCm39) V1240L probably damaging Het
Ttn T C 2: 76,584,389 (GRCm39) T13913A probably damaging Het
Ubap1 T G 4: 41,379,832 (GRCm39) C349G probably damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Other mutations in Gapt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01889:Gapt APN 13 110,490,501 (GRCm39) missense probably benign 0.00
R0862:Gapt UTSW 13 110,490,273 (GRCm39) missense probably damaging 0.99
R0864:Gapt UTSW 13 110,490,273 (GRCm39) missense probably damaging 0.99
R0981:Gapt UTSW 13 110,490,273 (GRCm39) missense probably damaging 0.99
R1183:Gapt UTSW 13 110,490,372 (GRCm39) missense possibly damaging 0.92
R1953:Gapt UTSW 13 110,490,340 (GRCm39) missense probably damaging 0.99
R4248:Gapt UTSW 13 110,490,289 (GRCm39) missense probably damaging 0.99
R5225:Gapt UTSW 13 110,490,522 (GRCm39) missense possibly damaging 0.71
R5969:Gapt UTSW 13 110,490,480 (GRCm39) missense probably benign 0.27
R7494:Gapt UTSW 13 110,490,262 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGACGACATCAGTCCACTCGGAG -3'
(R):5'- GGGAAAGCACACCGTTTACCCTAC -3'

Sequencing Primer
(F):5'- GGCCTGGTGATGGGTTTTC -3'
(R):5'- TGCCTACGTGATTAGCCCAAG -3'
Posted On 2014-01-05