Incidental Mutation 'R0595:Tgm2'
| ID |
189197 |
| 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 |
038785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R0595 (G1)
|
| Quality Score |
73 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
157958325-157988312 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 157984962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 48
(R48H)
|
| 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: R48H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: R48H
| Domain | Start | End | E-Value | Type |
|---|
|
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: R48H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133662
Gene: ENSMUSG00000037820
AA Change: R48H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transglut_N
|
5 |
124 |
1.9e-37 |
PFAM |
|
| Meta Mutation Damage Score |
0.1264 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
| Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
| Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
| Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
| Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
| Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
| Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
| Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
| Nlrp4d |
T |
A |
7: 10,114,972 (GRCm39) |
K581N |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
| Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
| Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
| Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
| Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
| Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
probably benign |
Het |
|
| Other mutations in Tgm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- TATGGAAAGCAGCGACCCAGTACAC -3'
(R):5'- GGATTGTATCACCTGAGACCACAGC -3'
Sequencing Primer
(F):5'- ccattctgaaactcagtttctcatc -3'
(R):5'- TGAGACCACAGCTTGCTGAG -3'
|
| Posted On |
2014-05-13 |
Incidental Mutation