Incidental Mutation 'R7151:Tgm2'
ID 554110
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 045253-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7151 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 157958325-157988312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157971315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 308 (N308S)
Ref Sequence ENSEMBL: ENSMUSP00000099411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103122] [ENSMUST00000152452] [ENSMUST00000174718]
AlphaFold P21981
Predicted Effect possibly damaging
Transcript: ENSMUST00000103122
AA Change: N308S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: N308S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T A 2: 32,630,618 (GRCm39) Q52L unknown Het
Acsl1 A G 8: 46,966,634 (GRCm39) D202G probably damaging Het
Adam3 A T 8: 25,185,271 (GRCm39) C476S probably damaging Het
Adam34 T A 8: 44,104,499 (GRCm39) E382V probably benign Het
Akap5 G A 12: 76,375,023 (GRCm39) V152I probably benign Het
Aldh5a1 C T 13: 25,121,382 (GRCm39) W57* probably null Het
Angptl2 C T 2: 33,133,922 (GRCm39) Q415* probably null Het
Bnc1 G T 7: 81,623,055 (GRCm39) T724N possibly damaging Het
Brca2 T C 5: 150,464,901 (GRCm39) V1555A probably benign Het
Btn1a1 T A 13: 23,643,483 (GRCm39) D322V probably damaging Het
Chsy3 T A 18: 59,542,357 (GRCm39) D498E possibly damaging Het
Ddx24 T C 12: 103,390,347 (GRCm39) T215A probably benign Het
Dhx57 A T 17: 80,580,476 (GRCm39) V492E probably damaging Het
Dnhd1 G A 7: 105,359,234 (GRCm39) R3523Q probably benign Het
Dock3 T A 9: 106,841,916 (GRCm39) D971V possibly damaging Het
Ercc8 T C 13: 108,323,816 (GRCm39) probably null Het
Erich5 T A 15: 34,471,095 (GRCm39) L108Q probably damaging Het
F5 A T 1: 164,029,230 (GRCm39) Y1743F probably damaging Het
Gale T C 4: 135,694,503 (GRCm39) V243A probably damaging Het
Gspt1 T A 16: 11,071,692 (GRCm39) Q57L probably benign Het
Gtf3a C A 5: 146,888,085 (GRCm39) Q129K probably benign Het
Heyl T C 4: 123,140,254 (GRCm39) V271A probably benign Het
Hsd17b4 T C 18: 50,261,437 (GRCm39) F7L probably damaging Het
Hspa12a T C 19: 58,810,594 (GRCm39) T150A probably benign Het
Ift140 T A 17: 25,274,699 (GRCm39) D790E probably damaging Het
Igkv4-69 T A 6: 69,260,917 (GRCm39) Y70F probably damaging Het
Il1rap T C 16: 26,530,878 (GRCm39) Y405H probably damaging Het
Insyn2a A C 7: 134,520,374 (GRCm39) I52S probably damaging Het
Irf2bpl G T 12: 86,930,127 (GRCm39) P182Q probably benign Het
Itm2b C A 14: 73,605,829 (GRCm39) probably benign Het
Kcnc2 T C 10: 112,294,414 (GRCm39) V106A possibly damaging Het
Krt87 C A 15: 101,387,529 (GRCm39) D170Y probably damaging Het
Lca5 T A 9: 83,280,693 (GRCm39) Y369F probably benign Het
Mgat5 T A 1: 127,373,999 (GRCm39) D466E probably damaging Het
Mier3 C T 13: 111,851,302 (GRCm39) P428L probably benign Het
Myo6 T C 9: 80,152,418 (GRCm39) Y167H unknown Het
Neu2 A G 1: 87,524,297 (GRCm39) E94G probably benign Het
Nlrp9a A T 7: 26,256,672 (GRCm39) K97* probably null Het
Npdc1 A G 2: 25,299,120 (GRCm39) M306V probably damaging Het
Odf2l A T 3: 144,832,827 (GRCm39) N95I probably benign Het
Or10j3 A G 1: 173,031,633 (GRCm39) K237E probably damaging Het
Or13d1 G T 4: 52,970,665 (GRCm39) V15L probably benign Het
Or5t16 A G 2: 86,819,385 (GRCm39) V45A probably benign Het
Or7g21 A G 9: 19,033,037 (GRCm39) Y259C possibly damaging Het
P2ry12 A G 3: 59,125,127 (GRCm39) F183L probably benign Het
Proser3 A G 7: 30,239,749 (GRCm39) F452L possibly damaging Het
Ptgfrn G T 3: 100,987,511 (GRCm39) Y117* probably null Het
Rab3gap2 G T 1: 184,980,250 (GRCm39) V360F probably benign Het
Rp1l1 A T 14: 64,266,475 (GRCm39) D687V possibly damaging Het
Rxfp2 T G 5: 149,966,572 (GRCm39) N103K probably benign Het
Scfd2 T A 5: 74,558,326 (GRCm39) Q517L possibly damaging Het
Scnn1b G A 7: 121,517,109 (GRCm39) A582T probably damaging Het
Serpinb6e T C 13: 34,021,818 (GRCm39) E170G probably damaging Het
Serpinb8 T A 1: 107,533,527 (GRCm39) V194E probably damaging Het
Sgcz T A 8: 38,006,833 (GRCm39) H191L possibly damaging Het
Sirt1 A T 10: 63,159,775 (GRCm39) L435Q probably damaging Het
Sorcs1 G A 19: 50,301,420 (GRCm39) P315S probably damaging Het
Spdef T A 17: 27,939,134 (GRCm39) S71C possibly damaging Het
Spta1 T A 1: 174,025,317 (GRCm39) H727Q probably damaging Het
Srsf1 C T 11: 87,940,084 (GRCm39) Q199* probably null Het
Stard9 A T 2: 120,526,623 (GRCm39) D960V probably benign Het
Tcp10c A T 17: 13,576,166 (GRCm39) I49F possibly damaging Het
Tiam2 A G 17: 3,498,660 (GRCm39) D812G probably benign Het
Tph1 A T 7: 46,311,541 (GRCm39) V67D possibly damaging Het
Trps1 C T 15: 50,685,793 (GRCm39) R794H possibly damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn2r92 A T 17: 18,387,005 (GRCm39) T115S probably benign Het
Wdr11 A G 7: 129,208,376 (GRCm39) D377G probably damaging Het
Wdr55 G T 18: 36,895,989 (GRCm39) A251S possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfp109 A T 7: 23,929,231 (GRCm39) H67Q probably benign Het
Zfp462 G A 4: 55,051,271 (GRCm39) C2248Y probably damaging Het
Zyg11b T C 4: 108,102,119 (GRCm39) H534R 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
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
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'- GAGTAGTCCCAAAAGCCAGC -3'
(R):5'- TGGCAGCTACATAACCTCCC -3'

Sequencing Primer
(F):5'- TGTGGTGAGCTTCCCACC -3'
(R):5'- TCCCACCCAGTCAGTAGG -3'
Posted On 2019-05-15