Incidental Mutation 'R0020:Tamalin'
ID 19026
Institutional Source Beutler Lab
Gene Symbol Tamalin
Ensembl Gene ENSMUSG00000000531
Gene Name trafficking regulator and scaffold protein tamalin
Synonyms tamalin, Grasp
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R0020 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 101122088-101130637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101128433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 157 (V157A)
Ref Sequence ENSEMBL: ENSMUSP00000000543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000543]
AlphaFold Q9JJA9
Predicted Effect probably damaging
Transcript: ENSMUST00000000543
AA Change: V157A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000543
Gene: ENSMUSG00000000531
AA Change: V157A

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
Meta Mutation Damage Score 0.6200 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 76.6%
  • 10x: 60.3%
  • 20x: 42.3%
Validation Efficiency 92% (100/109)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Akap11 A T 14: 78,755,617 (GRCm39) I74K probably benign Het
Atf2 T C 2: 73,676,628 (GRCm39) D122G possibly damaging Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Ccser1 C A 6: 61,290,788 (GRCm39) T490K possibly damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cnga4 G T 7: 105,054,884 (GRCm39) R53L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcho1 C T 8: 72,169,514 (GRCm39) G131R probably benign Het
Fhl5 A T 4: 25,200,054 (GRCm39) V260E probably benign Het
Kcna10 A T 3: 107,102,736 (GRCm39) I456F probably damaging Het
Loxl2 T C 14: 69,898,242 (GRCm39) V232A probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Megf9 A G 4: 70,406,386 (GRCm39) V260A probably benign Het
Nampt A T 12: 32,891,012 (GRCm39) S278C probably damaging Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Pamr1 C T 2: 102,472,423 (GRCm39) T574I probably benign Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pkhd1l1 A G 15: 44,420,268 (GRCm39) Y3002C probably damaging Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prdm4 T C 10: 85,743,487 (GRCm39) N256S probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Sptbn5 T A 2: 119,896,112 (GRCm39) I779F probably damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp629 C G 7: 127,210,341 (GRCm39) E489D probably benign Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign Het
Other mutations in Tamalin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Tamalin APN 15 101,126,777 (GRCm39) splice site probably benign
IGL02069:Tamalin APN 15 101,122,346 (GRCm39) missense probably damaging 1.00
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
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 2013-03-25