Incidental Mutation 'R1480:Gabarap'
ID 164321
Institutional Source Beutler Lab
Gene Symbol Gabarap
Ensembl Gene ENSMUSG00000018567
Gene Name gamma-aminobutyric acid receptor associated protein
Synonyms
MMRRC Submission 039533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1480 (G1)
Quality Score 115
Status Not validated
Chromosome 11
Chromosomal Location 69882196-69885775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69882551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 5 (Y5H)
Ref Sequence ENSEMBL: ENSMUSP00000104233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018711] [ENSMUST00000018716] [ENSMUST00000101526] [ENSMUST00000108592] [ENSMUST00000108593] [ENSMUST00000141623] [ENSMUST00000133485]
AlphaFold Q9DCD6
Predicted Effect probably damaging
Transcript: ENSMUST00000018711
AA Change: Y5H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018711
Gene: ENSMUSG00000018567
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:Atg8 13 116 1.8e-51 PFAM
Pfam:APG12 30 116 6.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000018716
SMART Domains Protein: ENSMUSP00000018716
Gene: ENSMUSG00000018572

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
low complexity region 147 161 N/A INTRINSIC
low complexity region 188 196 N/A INTRINSIC
low complexity region 210 224 N/A INTRINSIC
low complexity region 225 241 N/A INTRINSIC
low complexity region 247 261 N/A INTRINSIC
low complexity region 263 286 N/A INTRINSIC
PHD 339 383 1.2e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101526
SMART Domains Protein: ENSMUSP00000099064
Gene: ENSMUSG00000018572

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
low complexity region 80 94 N/A INTRINSIC
low complexity region 121 129 N/A INTRINSIC
low complexity region 143 157 N/A INTRINSIC
low complexity region 158 174 N/A INTRINSIC
low complexity region 180 194 N/A INTRINSIC
low complexity region 196 219 N/A INTRINSIC
PHD 272 316 1.2e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108592
AA Change: Y5H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104233
Gene: ENSMUSG00000018567
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:Atg8 13 93 5.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108593
SMART Domains Protein: ENSMUSP00000104234
Gene: ENSMUSG00000018559

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
CPDc 60 212 7.35e-76 SMART
low complexity region 214 224 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152226
Predicted Effect probably benign
Transcript: ENSMUST00000141623
SMART Domains Protein: ENSMUSP00000137199
Gene: ENSMUSG00000018559

DomainStartEndE-ValueType
CPDc 1 79 6.29e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133485
SMART Domains Protein: ENSMUSP00000117373
Gene: ENSMUSG00000018572

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
low complexity region 58 66 N/A INTRINSIC
low complexity region 80 94 N/A INTRINSIC
low complexity region 95 111 N/A INTRINSIC
low complexity region 117 131 N/A INTRINSIC
low complexity region 133 156 N/A INTRINSIC
PHD 209 253 1.2e-7 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,409 (GRCm39) R126C possibly damaging Het
Abcb9 C A 5: 124,216,889 (GRCm39) A443S probably benign Het
Adcy3 A G 12: 4,262,171 (GRCm39) M1074V probably damaging Het
Adnp A G 2: 168,025,454 (GRCm39) Y614H probably damaging Het
Agbl4 G A 4: 111,423,914 (GRCm39) M313I possibly damaging Het
AI987944 T C 7: 41,024,343 (GRCm39) D212G probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Aplp1 A G 7: 30,135,448 (GRCm39) S537P probably benign Het
Arap2 T A 5: 62,826,472 (GRCm39) R1031* probably null Het
Arid1a A G 4: 133,407,700 (GRCm39) M2269T unknown Het
Ash1l C A 3: 88,892,359 (GRCm39) P1413T probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt5 A T 16: 19,588,617 (GRCm39) I279L probably damaging Het
Camkk2 T C 5: 122,872,341 (GRCm39) probably null Het
Ccdc158 T C 5: 92,796,903 (GRCm39) K478E probably damaging Het
Ces1f T C 8: 94,000,782 (GRCm39) I121V probably benign Het
Chad A T 11: 94,455,963 (GRCm39) probably benign Het
Col6a1 T C 10: 76,545,752 (GRCm39) I907V unknown Het
Cpe T A 8: 65,047,969 (GRCm39) T432S probably benign Het
Csmd3 T C 15: 47,595,325 (GRCm39) T1941A possibly damaging Het
Dennd3 G A 15: 73,404,695 (GRCm39) V257I probably benign Het
Dnajc21 T C 15: 10,460,037 (GRCm39) probably null Het
Dqx1 A G 6: 83,036,433 (GRCm39) R146G possibly damaging Het
Etf1 T C 18: 35,042,276 (GRCm39) E261G probably damaging Het
Fermt2 C T 14: 45,699,244 (GRCm39) V617I possibly damaging Het
Gdap1 A G 1: 17,215,781 (GRCm39) Y29C probably damaging Het
Gimap5 A G 6: 48,729,964 (GRCm39) E178G probably damaging Het
Gpatch1 C T 7: 35,002,763 (GRCm39) G249E probably damaging Het
Gse1 T G 8: 121,299,133 (GRCm39) probably benign Het
Kifc3 T C 8: 95,836,515 (GRCm39) D82G probably damaging Het
Kit G A 5: 75,797,977 (GRCm39) D422N probably benign Het
Klhl28 A T 12: 65,003,995 (GRCm39) F173I probably damaging Het
Klk1b22 A G 7: 43,766,278 (GRCm39) D253G possibly damaging Het
Lias T A 5: 65,549,634 (GRCm39) H39Q probably benign Het
Lrp1b T A 2: 40,793,401 (GRCm39) D2504V probably damaging Het
Mgat5 A T 1: 127,387,716 (GRCm39) R557S probably damaging Het
Mrpl54 T C 10: 81,101,489 (GRCm39) T91A probably benign Het
Myh3 T A 11: 66,984,371 (GRCm39) D1069E possibly damaging Het
Nek1 T A 8: 61,577,360 (GRCm39) probably null Het
Nfyc A C 4: 120,625,921 (GRCm39) probably null Het
Nol7 A T 13: 43,552,104 (GRCm39) E75V probably damaging Het
Nomo1 T A 7: 45,710,337 (GRCm39) V606E probably damaging Het
Npat TGGTAAAA T 9: 53,474,366 (GRCm39) probably null Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Ogdh A T 11: 6,297,827 (GRCm39) probably null Het
Or1o4 A G 17: 37,590,636 (GRCm39) V225A probably benign Het
Parg A T 14: 31,931,585 (GRCm39) K402* probably null Het
Patj G A 4: 98,357,819 (GRCm39) G695E probably damaging Het
Pde3a G A 6: 141,433,300 (GRCm39) S777N probably benign Het
Phactr2 G A 10: 13,129,536 (GRCm39) P174L possibly damaging Het
Phtf1 C T 3: 103,894,750 (GRCm39) R113* probably null Het
Pik3r4 G T 9: 105,564,443 (GRCm39) V1346L probably benign Het
Prkcb T C 7: 122,193,865 (GRCm39) W525R probably damaging Het
Prl8a1 C T 13: 27,758,055 (GRCm39) R218H possibly damaging Het
Pum3 T C 19: 27,376,310 (GRCm39) E536G probably benign Het
Rb1 T C 14: 73,500,042 (GRCm39) N535S probably benign Het
Rbm7 G T 9: 48,401,016 (GRCm39) D237E probably benign Het
Ripor1 T C 8: 106,342,180 (GRCm39) V122A probably damaging Het
Sdhc C T 1: 170,973,370 (GRCm39) R11H probably benign Het
Sema3c A G 5: 17,887,029 (GRCm39) N360S possibly damaging Het
Serpinb5 T A 1: 106,809,437 (GRCm39) M281K probably benign Het
Serpinc1 A G 1: 160,822,889 (GRCm39) E210G probably benign Het
Shoc2 T C 19: 53,976,202 (GRCm39) S31P probably benign Het
Sult2a3 T A 7: 13,856,836 (GRCm39) N28I possibly damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Tacc3 G A 5: 33,821,941 (GRCm39) V234I probably benign Het
Tacr1 A T 6: 82,469,511 (GRCm39) M132L possibly damaging Het
Tas2r104 C A 6: 131,662,257 (GRCm39) V151F probably benign Het
Tbc1d10b C T 7: 126,802,950 (GRCm39) S326N probably benign Het
Trim12c C T 7: 103,997,451 (GRCm39) C35Y probably damaging Het
Trrap T C 5: 144,755,123 (GRCm39) I2067T probably benign Het
Upk1a T C 7: 30,306,311 (GRCm39) I152V probably benign Het
Vmn2r39 T G 7: 9,017,955 (GRCm39) T794P probably damaging Het
Wnk2 G A 13: 49,210,708 (GRCm39) P1704S probably damaging Het
Zfp609 T C 9: 65,610,593 (GRCm39) E790G possibly damaging Het
Zmym1 G T 4: 126,942,405 (GRCm39) T563K probably damaging Het
Zranb1 T A 7: 132,551,745 (GRCm39) F132Y probably benign Het
Zranb3 C T 1: 128,019,599 (GRCm39) A48T probably damaging Het
Other mutations in Gabarap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1728:Gabarap UTSW 11 69,882,515 (GRCm39) unclassified probably benign
R1729:Gabarap UTSW 11 69,882,515 (GRCm39) unclassified probably benign
R1730:Gabarap UTSW 11 69,882,515 (GRCm39) unclassified probably benign
R1783:Gabarap UTSW 11 69,882,515 (GRCm39) unclassified probably benign
R1784:Gabarap UTSW 11 69,882,515 (GRCm39) unclassified probably benign
R1785:Gabarap UTSW 11 69,882,515 (GRCm39) unclassified probably benign
R2142:Gabarap UTSW 11 69,882,515 (GRCm39) unclassified probably benign
R4603:Gabarap UTSW 11 69,885,287 (GRCm39) missense probably benign 0.04
R4832:Gabarap UTSW 11 69,882,678 (GRCm39) unclassified probably benign
R6377:Gabarap UTSW 11 69,882,630 (GRCm39) critical splice donor site probably null
R7331:Gabarap UTSW 11 69,885,298 (GRCm39) missense possibly damaging 0.85
R8293:Gabarap UTSW 11 69,883,498 (GRCm39) missense possibly damaging 0.87
R9311:Gabarap UTSW 11 69,882,549 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCCCAACGTAATTTCCGAGAACTG -3'
(R):5'- GCTTTCCCAGACTCAAGCATAGCC -3'

Sequencing Primer
(F):5'- GTGTAACCCACAAGTTGATTCC -3'
(R):5'- AAGCATAGCCTGTGGCGAC -3'
Posted On 2014-03-28