Incidental Mutation 'R4247:Tamalin'
ID 320481
Institutional Source Beutler Lab
Gene Symbol Tamalin
Ensembl Gene ENSMUSG00000000531
Gene Name trafficking regulator and scaffold protein tamalin
Synonyms tamalin, Grasp
MMRRC Submission 041063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R4247 (G1)
Quality Score 186
Status Validated
Chromosome 15
Chromosomal Location 101122088-101130637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101122418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 79 (R79L)
Ref Sequence ENSEMBL: ENSMUSP00000000543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000543]
AlphaFold Q9JJA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000000543
AA Change: R79L

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000000543
Gene: ENSMUSG00000000531
AA Change: R79L

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
Meta Mutation Damage Score 0.1105 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (41/42)
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
Adam22 T C 5: 8,195,626 (GRCm39) I305V probably benign Het
Aga T A 8: 53,964,865 (GRCm39) L9Q possibly damaging Het
Akna C T 4: 63,313,409 (GRCm39) G238D probably benign Het
Arhgap23 G A 11: 97,354,525 (GRCm39) E813K probably damaging Het
Atp13a2 T C 4: 140,719,539 (GRCm39) probably null Het
Atp8a1 C T 5: 67,824,917 (GRCm39) G820S probably damaging Het
Ccdc97 T G 7: 25,415,459 (GRCm39) H68P possibly damaging Het
Dclre1b A C 3: 103,711,400 (GRCm39) probably null Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fubp1 G A 3: 151,937,573 (GRCm39) A103T possibly damaging Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gtf3c5 T C 2: 28,461,196 (GRCm39) D306G probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hsdl2 A T 4: 59,594,417 (GRCm39) N16I probably damaging Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Kif27 A G 13: 58,435,731 (GRCm39) V1354A probably damaging Het
Kif9 G T 9: 110,325,027 (GRCm39) probably null Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrrc24 A G 15: 76,602,176 (GRCm39) I193T possibly damaging Het
Or2bd2 A G 7: 6,441,901 (GRCm39) probably benign Het
Or52b1 T C 7: 104,979,355 (GRCm39) I15V probably benign Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Pramel52-ps A G 5: 94,531,446 (GRCm39) D110G possibly damaging Het
Ranbp2 A G 10: 58,314,686 (GRCm39) D1802G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Scn11a C T 9: 119,636,952 (GRCm39) V250M probably damaging Het
Slitrk1 A G 14: 109,149,994 (GRCm39) V239A possibly damaging Het
Slitrk6 T A 14: 110,988,171 (GRCm39) D512V probably damaging Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Trp73 A G 4: 154,149,089 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Upp1 T C 11: 9,084,815 (GRCm39) I178T probably benign Het
Vmn2r73 A T 7: 85,521,883 (GRCm39) L152Q probably damaging Het
Vmn2r97 T C 17: 19,167,542 (GRCm39) S599P possibly damaging Het
Wrnip1 T C 13: 32,990,866 (GRCm39) L375P probably damaging Het
Zfp945 C T 17: 23,069,583 (GRCm39) G793D probably damaging Het
Zfyve9 C A 4: 108,576,389 (GRCm39) A231S 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
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
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
Predicted Primers PCR Primer
(F):5'- TAAAGCAAGGCTACACGCGG -3'
(R):5'- CCAGATGGAGCAAGCTGTAG -3'

Sequencing Primer
(F):5'- GACTCAGGAAGCTGCAGC -3'
(R):5'- TACAGCCTTCTGAGACCCGAG -3'
Posted On 2015-06-12