Incidental Mutation 'R5842:Tgm2'
ID 450478
Institutional Source Beutler Lab
Gene Symbol Tgm2
Ensembl Gene ENSMUSG00000037820
Gene Name transglutaminase 2, C polypeptide
Synonyms TG2, TG C, tissue transglutaminase, protein-glutamine gamma-glutamyltransferase, G[a]h, tTGas, TGase2, tTG
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R5842 (G1)
Quality Score 169
Status Not validated
Chromosome 2
Chromosomal Location 157958325-157988312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 157985001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 35 (R35H)
Ref Sequence ENSEMBL: ENSMUSP00000133662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103122] [ENSMUST00000174718]
AlphaFold P21981
Predicted Effect probably damaging
Transcript: ENSMUST00000103122
AA Change: R35H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: R35H

DomainStartEndE-ValueType
Pfam:Transglut_N 6 122 3.6e-34 PFAM
TGc 269 361 1.11e-38 SMART
Pfam:Transglut_C 473 572 5.7e-29 PFAM
Pfam:Transglut_C 586 685 2.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152690
Predicted Effect probably damaging
Transcript: ENSMUST00000174718
AA Change: R35H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133662
Gene: ENSMUSG00000037820
AA Change: R35H

DomainStartEndE-ValueType
Pfam:Transglut_N 5 124 1.9e-37 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: A homozygous null mutation causes alterations in glucose and aerobic energy metabolism, tumor growth, and response to myocardial infarction, liver injury, and LPS-induced sepsis. A second null mutation confers resistance to renal injury, while a third one alters cell adhesion and T cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,474,618 (GRCm39) H462Y probably damaging Het
Atp12a T C 14: 56,615,747 (GRCm39) I503T probably damaging Het
Bmp6 T A 13: 38,530,543 (GRCm39) V212D probably damaging Het
Col7a1 A G 9: 108,794,883 (GRCm39) D1479G unknown Het
Eea1 A G 10: 95,853,986 (GRCm39) D548G probably damaging Het
Eif5a2 T C 3: 28,848,546 (GRCm39) V135A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fstl5 T G 3: 76,229,590 (GRCm39) N130K possibly damaging Het
Gatm T C 2: 122,434,108 (GRCm39) I147V probably benign Het
Jakmip1 C T 5: 37,264,612 (GRCm39) R418C probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Matn2 A T 15: 34,399,202 (GRCm39) D363V probably damaging Het
Mov10 G A 3: 104,706,695 (GRCm39) probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nbas T C 12: 13,319,267 (GRCm39) probably null Het
Nlgn1 A T 3: 26,187,892 (GRCm39) probably null Het
Nnt T A 13: 119,531,283 (GRCm39) I155F probably damaging Het
Or5p80 A G 7: 108,229,859 (GRCm39) Y220C probably benign Het
Pacc1 G T 1: 191,078,986 (GRCm39) C223F probably damaging Het
Parp9 A G 16: 35,763,778 (GRCm39) I19V possibly damaging Het
Pcdha11 T A 18: 37,144,337 (GRCm39) S143T possibly damaging Het
Pdzph1 T G 17: 59,281,407 (GRCm39) S292R possibly damaging Het
Pmvk T A 3: 89,374,927 (GRCm39) V108D probably damaging Het
Rc3h2 T C 2: 37,268,383 (GRCm39) T916A possibly damaging Het
Slc23a1 T A 18: 35,755,935 (GRCm39) I393F probably damaging Het
Slc4a7 T A 14: 14,778,866 (GRCm38) M925K probably damaging Het
Spag17 A G 3: 99,846,566 (GRCm39) D30G possibly damaging Het
Syde2 A G 3: 145,704,775 (GRCm39) I576V probably benign Het
Tiam1 A G 16: 89,652,887 (GRCm39) V745A probably benign Het
Timeless T C 10: 128,083,328 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,289 (GRCm39) K129E possibly damaging Het
Ttc6 T C 12: 57,783,802 (GRCm39) Y1754H probably damaging Het
Ube4b G T 4: 149,415,887 (GRCm39) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm39) S294L possibly damaging Het
Vgll2 T C 10: 51,901,388 (GRCm39) L106P probably damaging Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Wdr73 A T 7: 80,541,458 (GRCm39) H361Q probably damaging Het
Xrcc3 A T 12: 111,770,964 (GRCm39) F322I possibly damaging Het
Ypel1 T C 16: 16,912,851 (GRCm39) T26A possibly damaging Het
Other mutations in Tgm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Tgm2 APN 2 157,966,051 (GRCm39) missense probably benign
IGL03110:Tgm2 APN 2 157,973,410 (GRCm39) nonsense probably null
IGL03397:Tgm2 APN 2 157,962,178 (GRCm39) missense probably damaging 1.00
R0595:Tgm2 UTSW 2 157,984,962 (GRCm39) missense probably damaging 1.00
R0786:Tgm2 UTSW 2 157,966,301 (GRCm39) missense probably damaging 1.00
R1019:Tgm2 UTSW 2 157,966,074 (GRCm39) nonsense probably null
R1395:Tgm2 UTSW 2 157,966,172 (GRCm39) missense probably benign 0.01
R1732:Tgm2 UTSW 2 157,976,277 (GRCm39) missense probably damaging 1.00
R1776:Tgm2 UTSW 2 157,973,379 (GRCm39) missense probably benign 0.00
R1863:Tgm2 UTSW 2 157,966,139 (GRCm39) missense probably damaging 1.00
R2863:Tgm2 UTSW 2 157,985,019 (GRCm39) missense probably benign 0.01
R3036:Tgm2 UTSW 2 157,966,167 (GRCm39) missense probably benign 0.00
R4200:Tgm2 UTSW 2 157,974,410 (GRCm39) missense probably benign
R4370:Tgm2 UTSW 2 157,966,221 (GRCm39) nonsense probably null
R4612:Tgm2 UTSW 2 157,966,124 (GRCm39) missense probably benign 0.16
R5100:Tgm2 UTSW 2 157,969,084 (GRCm39) missense probably benign 0.33
R5213:Tgm2 UTSW 2 157,984,980 (GRCm39) missense possibly damaging 0.88
R5253:Tgm2 UTSW 2 157,971,358 (GRCm39) missense probably damaging 1.00
R5585:Tgm2 UTSW 2 157,973,375 (GRCm39) nonsense probably null
R5593:Tgm2 UTSW 2 157,969,262 (GRCm39) missense probably damaging 1.00
R5616:Tgm2 UTSW 2 157,970,640 (GRCm39) missense probably damaging 1.00
R5796:Tgm2 UTSW 2 157,960,824 (GRCm39) missense probably benign 0.00
R5821:Tgm2 UTSW 2 157,984,974 (GRCm39) missense possibly damaging 0.81
R6317:Tgm2 UTSW 2 157,966,070 (GRCm39) missense probably benign 0.18
R6610:Tgm2 UTSW 2 157,985,020 (GRCm39) nonsense probably null
R7134:Tgm2 UTSW 2 157,980,812 (GRCm39) missense probably benign
R7151:Tgm2 UTSW 2 157,971,315 (GRCm39) missense possibly damaging 0.95
R7268:Tgm2 UTSW 2 157,962,188 (GRCm39) nonsense probably null
R7719:Tgm2 UTSW 2 157,985,038 (GRCm39) missense probably damaging 1.00
R8728:Tgm2 UTSW 2 157,962,065 (GRCm39) missense probably benign 0.02
R9389:Tgm2 UTSW 2 157,959,816 (GRCm39) missense probably benign 0.19
R9460:Tgm2 UTSW 2 157,971,241 (GRCm39) critical splice donor site probably null
R9509:Tgm2 UTSW 2 157,969,210 (GRCm39) nonsense probably null
R9518:Tgm2 UTSW 2 157,985,049 (GRCm39) missense probably benign 0.03
R9781:Tgm2 UTSW 2 157,971,321 (GRCm39) missense probably damaging 1.00
X0058:Tgm2 UTSW 2 157,966,067 (GRCm39) missense probably benign 0.01
X0067:Tgm2 UTSW 2 157,960,765 (GRCm39) critical splice donor site probably null
Z1177:Tgm2 UTSW 2 157,959,819 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGGAAAGCAGCGACCCAG -3'
(R):5'- CGAGTAGGATTGTATCACCTGAG -3'

Sequencing Primer
(F):5'- ACAGCTGAGATTCCCATAGGTTG -3'
(R):5'- GTAGGATTGTATCACCTGAGACCAC -3'
Posted On 2016-12-20