Incidental Mutation 'IGL02997:Tamalin'
ID 407168
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 # IGL02997
Quality Score
Status
Chromosome 15
Chromosomal Location 101122088-101130637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101128899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 216 (S216P)
Ref Sequence ENSEMBL: ENSMUSP00000000543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000543]
AlphaFold Q9JJA9
Predicted Effect probably damaging
Transcript: ENSMUST00000000543
AA Change: S216P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000543
Gene: ENSMUSG00000000531
AA Change: S216P

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,966,359 (GRCm39) probably benign Het
Adamts15 T C 9: 30,817,353 (GRCm39) probably benign Het
Arsa T C 15: 89,358,241 (GRCm39) D356G probably damaging Het
Cmbl A G 15: 31,585,490 (GRCm39) K113E probably benign Het
Cmklr1 T C 5: 113,752,701 (GRCm39) D100G probably benign Het
Col23a1 T A 11: 51,467,979 (GRCm39) C517S probably damaging Het
Frem1 T A 4: 82,853,205 (GRCm39) L1699F probably damaging Het
Ganab A G 19: 8,892,776 (GRCm39) D900G probably benign Het
Glrp1 T C 1: 88,437,507 (GRCm39) probably benign Het
Gys2 A T 6: 142,395,195 (GRCm39) D423E probably damaging Het
H2-T9 A G 17: 36,438,728 (GRCm39) V221A possibly damaging Het
Hp C A 8: 110,302,418 (GRCm39) V177F probably damaging Het
Isoc1 T C 18: 58,804,516 (GRCm39) probably benign Het
Kif18b A G 11: 102,799,910 (GRCm39) L513P probably damaging Het
Kifc2 T C 15: 76,548,539 (GRCm39) V342A possibly damaging Het
Krt78 A T 15: 101,855,598 (GRCm39) S738T probably benign Het
Lats1 A G 10: 7,578,018 (GRCm39) N381D possibly damaging Het
Masp2 C A 4: 148,687,632 (GRCm39) probably benign Het
Mybpc1 G T 10: 88,362,235 (GRCm39) N982K probably damaging Het
Ncor2 A T 5: 125,196,634 (GRCm39) probably benign Het
Nkg7 T C 7: 43,087,291 (GRCm39) F133L probably damaging Het
Nlrp1a A T 11: 71,014,491 (GRCm39) I253N probably damaging Het
Nlrp4e G T 7: 23,000,799 (GRCm39) Q31H probably benign Het
Or4p22 A C 2: 88,317,732 (GRCm39) I219L probably damaging Het
Orc6 T A 8: 86,032,837 (GRCm39) probably benign Het
Pbrm1 C T 14: 30,783,508 (GRCm39) L542F probably damaging Het
Pcdh10 T C 3: 45,333,797 (GRCm39) I37T probably damaging Het
Pex5l C A 3: 33,009,991 (GRCm39) probably benign Het
Prl2b1 A G 13: 27,569,087 (GRCm39) probably benign Het
Rnf168 G A 16: 32,104,239 (GRCm39) E146K probably damaging Het
Rsph6a T G 7: 18,788,764 (GRCm39) L32R probably benign Het
Scaper C T 9: 55,722,783 (GRCm39) R675H probably damaging Het
Sf3a2 G A 10: 80,639,454 (GRCm39) R148H probably damaging Het
Shank2 A G 7: 143,635,610 (GRCm39) N328S probably benign Het
Smurf1 T A 5: 144,834,815 (GRCm39) R153* probably null Het
Sorcs2 C T 5: 36,225,492 (GRCm39) V126M probably damaging Het
Trav7d-4 T C 14: 53,007,713 (GRCm39) S69P probably damaging Het
Trh G T 6: 92,220,115 (GRCm39) probably benign Het
Utp20 A G 10: 88,649,896 (GRCm39) V438A probably benign Het
Utp25 T C 1: 192,802,892 (GRCm39) Q275R probably benign Het
Wdfy3 T C 5: 102,042,778 (GRCm39) E1991G probably null 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
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 2016-08-02