Incidental Mutation 'IGL02187:Gprasp1'
ID 283711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gprasp1
Ensembl Gene ENSMUSG00000043384
Gene Name G protein-coupled receptor associated sorting protein 1
Synonyms 3110031O14Rik, GASP1, 2210415K24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL02187
Quality Score
Status
Chromosome X
Chromosomal Location 134643482-134704223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134699912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 35 (V35E)
Ref Sequence ENSEMBL: ENSMUSP00000132225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113144] [ENSMUST00000113145] [ENSMUST00000113147] [ENSMUST00000166554]
AlphaFold Q5U4C1
Predicted Effect probably damaging
Transcript: ENSMUST00000113144
AA Change: V35E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108769
Gene: ENSMUSG00000043384
AA Change: V35E

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 1.3e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113145
AA Change: V35E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108770
Gene: ENSMUSG00000043384
AA Change: V35E

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113147
AA Change: V35E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108772
Gene: ENSMUSG00000043384
AA Change: V35E

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166554
AA Change: V35E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132225
Gene: ENSMUSG00000043384
AA Change: V35E

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 1.3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207433
Coding Region Coverage
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 GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired behavioral response to cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,439,826 (GRCm39) E922D possibly damaging Het
Asxl3 T A 18: 22,658,035 (GRCm39) M2015K probably damaging Het
C8a C A 4: 104,719,933 (GRCm39) R15L probably damaging Het
Catsperg2 A G 7: 29,420,791 (GRCm39) V47A probably benign Het
Cdhr2 C T 13: 54,881,523 (GRCm39) T1081I possibly damaging Het
Cenatac C T 9: 44,322,084 (GRCm39) probably benign Het
Cep85 T A 4: 133,858,616 (GRCm39) M752L possibly damaging Het
Cxcr3 T A X: 100,776,483 (GRCm39) S60C probably damaging Het
Cyp24a1 T A 2: 170,336,013 (GRCm39) N208I probably damaging Het
Cyp2c38 A G 19: 39,424,649 (GRCm39) I223T probably benign Het
Dennd6a A G 14: 26,328,081 (GRCm39) I35V probably benign Het
Emb T G 13: 117,405,507 (GRCm39) probably benign Het
Fbxo3 T C 2: 103,858,295 (GRCm39) Y30H probably damaging Het
Fnbp1l G A 3: 122,362,449 (GRCm39) R120* probably null Het
Galnt2 T C 8: 125,032,245 (GRCm39) probably benign Het
Gckr T C 5: 31,464,768 (GRCm39) probably benign Het
Gpr101 A G X: 56,546,841 (GRCm39) F103S probably damaging Het
Ift80 C A 3: 68,892,789 (GRCm39) W133L probably damaging Het
Impdh1 C A 6: 29,207,086 (GRCm39) probably benign Het
Ino80 T C 2: 119,275,938 (GRCm39) probably benign Het
Kansl1 A T 11: 104,269,657 (GRCm39) probably null Het
Klhl20 C T 1: 160,937,280 (GRCm39) V32I probably benign Het
Lrfn3 A G 7: 30,055,389 (GRCm39) S519P probably damaging Het
Mrpl51 A G 6: 125,170,294 (GRCm39) N100S probably benign Het
Mybpc3 T C 2: 90,965,797 (GRCm39) I1203T probably benign Het
Nbr1 A G 11: 101,460,185 (GRCm39) I394V possibly damaging Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Or7g34 T A 9: 19,478,393 (GRCm39) T96S probably benign Het
Pan3 T C 5: 147,463,398 (GRCm39) I440T probably benign Het
Patz1 T C 11: 3,241,134 (GRCm39) L174P probably damaging Het
Paxx A G 2: 25,350,668 (GRCm39) L62P probably damaging Het
Plekhh1 T C 12: 79,119,592 (GRCm39) S972P probably damaging Het
Ppp1r13b G T 12: 111,801,472 (GRCm39) T404K probably damaging Het
Prkaa2 T C 4: 104,904,363 (GRCm39) N238S probably benign Het
Prpf6 T C 2: 181,257,809 (GRCm39) Y94H probably damaging Het
Rtn4 T C 11: 29,658,291 (GRCm39) I815T possibly damaging Het
Slc44a5 A G 3: 153,968,554 (GRCm39) T582A probably benign Het
Slitrk3 A G 3: 72,957,605 (GRCm39) L389S probably damaging Het
Srp54b T A 12: 55,299,560 (GRCm39) M297K probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zmym4 T A 4: 126,764,066 (GRCm39) I1325L probably damaging Het
Zswim2 C A 2: 83,753,982 (GRCm39) R226L probably damaging Het
Other mutations in Gprasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Gprasp1 APN X 134,701,288 (GRCm39) missense probably benign
IGL02375:Gprasp1 APN X 134,701,552 (GRCm39) missense probably damaging 0.99
IGL02503:Gprasp1 APN X 134,703,279 (GRCm39) nonsense probably null
R2049:Gprasp1 UTSW X 134,702,791 (GRCm39) missense possibly damaging 0.57
R2141:Gprasp1 UTSW X 134,702,791 (GRCm39) missense possibly damaging 0.57
R2142:Gprasp1 UTSW X 134,702,791 (GRCm39) missense possibly damaging 0.57
R3107:Gprasp1 UTSW X 134,700,508 (GRCm39) missense probably benign 0.01
R4569:Gprasp1 UTSW X 134,703,592 (GRCm39) missense probably damaging 0.97
R4570:Gprasp1 UTSW X 134,703,592 (GRCm39) missense probably damaging 0.97
Z1088:Gprasp1 UTSW X 134,700,190 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16