Incidental Mutation 'R5100:Tgm2'
ID 388204
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 042689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R5100 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 157958325-157988312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157969084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 430 (S430R)
Ref Sequence ENSEMBL: ENSMUSP00000099411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103122] [ENSMUST00000152452] [ENSMUST00000174718]
AlphaFold P21981
Predicted Effect probably benign
Transcript: ENSMUST00000103122
AA Change: S430R

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: S430R

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 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: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,477 (GRCm39) M774K probably damaging Het
Adamts3 G A 5: 89,856,502 (GRCm39) T357I probably damaging Het
Ap3m2 T A 8: 23,279,404 (GRCm39) M408L probably benign Het
Apaf1 A T 10: 90,833,149 (GRCm39) N1116K probably benign Het
Arhgap31 A T 16: 38,421,821 (GRCm39) I1415N probably damaging Het
Arhgef17 A T 7: 100,530,963 (GRCm39) D1374E possibly damaging Het
Asxl1 C G 2: 153,239,851 (GRCm39) N546K probably damaging Het
Cobll1 T A 2: 64,956,245 (GRCm39) T337S probably benign Het
Depdc1a A T 3: 159,221,157 (GRCm39) I163L probably benign Het
Flrt3 T A 2: 140,513,304 (GRCm39) probably null Het
Foxn4 A T 5: 114,394,820 (GRCm39) L369H possibly damaging Het
Gm11992 T C 11: 9,011,290 (GRCm39) S244P probably damaging Het
Gm14412 C T 2: 177,006,908 (GRCm39) C329Y probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5113 G A 7: 29,878,076 (GRCm39) V55M probably damaging Het
Grhl3 A G 4: 135,269,986 (GRCm39) I599T probably benign Het
H2-Q6 G C 17: 35,644,296 (GRCm39) E93Q probably benign Het
Hk3 T C 13: 55,156,843 (GRCm39) T570A probably damaging Het
Hspb8 T C 5: 116,553,468 (GRCm39) I143M probably damaging Het
Kif15 A G 9: 122,821,059 (GRCm39) T655A probably damaging Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Lrit1 T A 14: 36,784,171 (GRCm39) C500S possibly damaging Het
Macf1 A C 4: 123,368,261 (GRCm39) C602G probably benign Het
Mesd C T 7: 83,546,977 (GRCm39) R147C probably damaging Het
Mfge8 A T 7: 78,793,048 (GRCm39) D139E probably benign Het
Ncoa3 G A 2: 165,892,017 (GRCm39) R131Q probably damaging Het
Ncoa5 A G 2: 164,851,309 (GRCm39) I188T probably damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nhlrc1 T C 13: 47,167,897 (GRCm39) H120R probably benign Het
Otos T A 1: 92,572,107 (GRCm39) H73L probably damaging Het
Pcsk5 C T 19: 17,492,499 (GRCm39) probably null Het
Phc3 T C 3: 30,976,348 (GRCm39) E740G possibly damaging Het
Pla2g7 T C 17: 43,922,267 (GRCm39) L382P probably damaging Het
Plcd3 C A 11: 102,969,175 (GRCm39) R264L probably benign Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Ptchd4 A T 17: 42,814,567 (GRCm39) I823F possibly damaging Het
Scn9a T C 2: 66,364,463 (GRCm39) R828G probably damaging Het
Spred2 T A 11: 19,971,291 (GRCm39) C386* probably null Het
Terb1 A T 8: 105,221,805 (GRCm39) L165* probably null Het
Tnxb A T 17: 34,929,902 (GRCm39) I2879F probably damaging Het
Trpm3 T G 19: 22,896,130 (GRCm39) V977G probably damaging Het
Wnt5b A C 6: 119,417,449 (GRCm39) S139A probably benign Het
Zfp820 C A 17: 22,040,054 (GRCm39) V52L possibly damaging Het
Zfyve26 T A 12: 79,326,832 (GRCm39) R764* probably null 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
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'- GGTCACTGACACACATAGGTTG -3'
(R):5'- ATGCCTGTGGTCCAATCCTG -3'

Sequencing Primer
(F):5'- CACATAGGTTGCCAAGTGTAATGC -3'
(R):5'- ACATACTGTTGTGGCCCAG -3'
Posted On 2016-06-06