Incidental Mutation 'IGL02069:Tamalin'
ID 185745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tamalin
Ensembl Gene ENSMUSG00000000531
Gene Name trafficking regulator and scaffold protein tamalin
Synonyms tamalin, Grasp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # IGL02069
Quality Score
Status
Chromosome 15
Chromosomal Location 101122088-101130637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101122346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 55 (Y55C)
Ref Sequence ENSEMBL: ENSMUSP00000000543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000543]
AlphaFold Q9JJA9
Predicted Effect probably damaging
Transcript: ENSMUST00000000543
AA Change: Y55C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000543
Gene: ENSMUSG00000000531
AA Change: Y55C

DomainStartEndE-ValueType
low complexity region 30 57 N/A INTRINSIC
PDZ 109 189 2.12e-13 SMART
low complexity region 248 277 N/A INTRINSIC
low complexity region 291 312 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229610
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 protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for targeted null mutations develop and behave normally under ordinary conditions but display a marked reduction in sensitivity to acute morphine responses and impaired adaptive responses to morphine and cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,742,500 (GRCm39) V569M possibly damaging Het
Alms1 T C 6: 85,605,805 (GRCm39) V2016A probably benign Het
Apcdd1 T A 18: 63,083,054 (GRCm39) W295R probably damaging Het
Arid5b T A 10: 67,933,229 (GRCm39) D648V probably damaging Het
C2cd6 A G 1: 59,091,700 (GRCm39) probably benign Het
Cst12 A T 2: 148,634,368 (GRCm39) D101V probably damaging Het
Cyp46a1 T A 12: 108,312,394 (GRCm39) Y135N probably benign Het
D630045J12Rik T C 6: 38,161,007 (GRCm39) S1046G probably damaging Het
Dhtkd1 A T 2: 5,935,745 (GRCm39) Y122* probably null Het
Disp2 T A 2: 118,621,161 (GRCm39) I631N possibly damaging Het
Dna2 A G 10: 62,794,773 (GRCm39) I387V probably benign Het
Dnah7a A T 1: 53,601,053 (GRCm39) probably benign Het
Eif2ak3 T C 6: 70,873,949 (GRCm39) F954S probably damaging Het
Elp1 C T 4: 56,779,731 (GRCm39) G560D probably benign Het
Fancm C A 12: 65,122,685 (GRCm39) A69D probably benign Het
Fbxo34 T A 14: 47,767,070 (GRCm39) D143E probably damaging Het
Fchsd1 G A 18: 38,100,667 (GRCm39) R144* probably null Het
Fip1l1 A G 5: 74,752,534 (GRCm39) D402G probably damaging Het
Frem1 A G 4: 82,821,788 (GRCm39) S2107P probably damaging Het
Gm1527 A G 3: 28,980,763 (GRCm39) N621S possibly damaging Het
Hddc2 G A 10: 31,192,314 (GRCm39) D54N probably damaging Het
Ighm T A 12: 113,384,768 (GRCm39) probably benign Het
Il17d G T 14: 57,779,972 (GRCm39) E165* probably null Het
Kmt5b A T 19: 3,857,335 (GRCm39) K364M probably damaging Het
Ldb1 C A 19: 46,021,617 (GRCm39) W390L possibly damaging Het
Lgmn T C 12: 102,370,558 (GRCm39) E124G possibly damaging Het
Mroh2b A G 15: 4,933,806 (GRCm39) probably benign Het
Pga5 C T 19: 10,646,763 (GRCm39) G323S possibly damaging Het
Pkd1l3 A T 8: 110,362,012 (GRCm39) N1018I probably damaging Het
Polr2b A G 5: 77,491,044 (GRCm39) T962A probably benign Het
Ptger1 A G 8: 84,396,086 (GRCm39) E381G probably benign Het
Sec24a A T 11: 51,624,761 (GRCm39) probably benign Het
Serpine2 T A 1: 79,799,129 (GRCm39) I42F possibly damaging Het
Sh3tc1 C T 5: 35,876,339 (GRCm39) R122Q probably benign Het
Slc15a2 T C 16: 36,579,613 (GRCm39) I347V probably benign Het
Snx4 T C 16: 33,084,725 (GRCm39) Y80H probably damaging Het
Spata16 C A 3: 26,786,944 (GRCm39) C207* probably null Het
Syne2 A G 12: 75,974,186 (GRCm39) Q1128R probably benign Het
Trpm4 T A 7: 44,968,718 (GRCm39) N405I probably damaging Het
Upp2 A G 2: 58,661,429 (GRCm39) probably benign Het
Other mutations in Tamalin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Tamalin APN 15 101,126,777 (GRCm39) splice site probably benign
IGL02516:Tamalin APN 15 101,126,932 (GRCm39) missense probably damaging 1.00
IGL02997:Tamalin APN 15 101,128,899 (GRCm39) missense probably damaging 1.00
IGL03079:Tamalin APN 15 101,128,448 (GRCm39) missense probably damaging 1.00
R0020:Tamalin UTSW 15 101,128,433 (GRCm39) missense probably damaging 1.00
R0020:Tamalin UTSW 15 101,128,433 (GRCm39) missense probably damaging 1.00
R1916:Tamalin UTSW 15 101,124,850 (GRCm39) splice site probably benign
R1952:Tamalin UTSW 15 101,122,381 (GRCm39) missense probably benign 0.07
R4247:Tamalin UTSW 15 101,122,418 (GRCm39) missense possibly damaging 0.55
R5040:Tamalin UTSW 15 101,126,923 (GRCm39) missense probably damaging 1.00
R5117:Tamalin UTSW 15 101,128,418 (GRCm39) missense probably damaging 1.00
R7290:Tamalin UTSW 15 101,129,419 (GRCm39) missense probably damaging 1.00
R8141:Tamalin UTSW 15 101,129,790 (GRCm39) missense possibly damaging 0.72
R8239:Tamalin UTSW 15 101,128,902 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07