Incidental Mutation 'R0786:Tgm2'
ID 76840
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 038966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 157958325-157988312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157966301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 451 (E451G)
Ref Sequence ENSEMBL: ENSMUSP00000099411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103122] [ENSMUST00000152452] [ENSMUST00000174718]
AlphaFold P21981
Predicted Effect probably damaging
Transcript: ENSMUST00000103122
AA Change: E451G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: E451G

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 probably benign
Transcript: ENSMUST00000152452
SMART Domains Protein: ENSMUSP00000118434
Gene: ENSMUSG00000027651

DomainStartEndE-ValueType
RPR 8 130 1.71e-53 SMART
low complexity region 132 145 N/A INTRINSIC
PDB:4FLA|D 171 222 3e-25 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000174718
SMART Domains Protein: ENSMUSP00000133662
Gene: ENSMUSG00000037820

DomainStartEndE-ValueType
Pfam:Transglut_N 5 124 1.9e-37 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E 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
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
R5842:Tgm2 UTSW 2 157,985,001 (GRCm39) missense probably damaging 1.00
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'- TTGATGTCCTCAGTGCCACACTCG -3'
(R):5'- CCCGTACAAACGAATCATCGTGTCC -3'

Sequencing Primer
(F):5'- ACCCCGTTGTAGCTGACAG -3'
(R):5'- ATGGAACCTTGACTCTTGAGC -3'
Posted On 2013-10-16