Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Tgm2'

199365

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

039764-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157958325-157988312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157976277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 149 (Y149C)

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: Y149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: Y149C

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

probably benign
Transcript: ENSMUST00000152452

SMART Domains

Protein: ENSMUSP00000118434
Gene: ENSMUSG00000027651

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000152690

Predicted Effect

probably benign
Transcript: ENSMUST00000174718

SMART Domains

Protein: ENSMUSP00000133662
Gene: ENSMUSG00000037820

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	5	124	1.9e-37	PFAM

Meta Mutation Damage Score

0.9190

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,265,995 (GRCm39)	Q1445K	probably benign	Het
Acacb	A	T	5: 114,328,148 (GRCm39)	M303L	possibly damaging	Het
Actl9	T	C	17: 33,652,096 (GRCm39)	V52A	probably damaging	Het
Adam7	T	C	14: 68,735,899 (GRCm39)	T781A	probably benign	Het
Agpat4	T	C	17: 12,435,615 (GRCm39)	V293A	probably benign	Het
Ank1	T	A	8: 23,601,479 (GRCm39)		probably benign	Het
Atp1a1	C	A	3: 101,492,115 (GRCm39)	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,527,992 (GRCm39)	F172L	probably damaging	Het
Bmp1	A	T	14: 70,723,705 (GRCm39)	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,762 (GRCm39)	I924N	probably benign	Het
Chek2	G	T	5: 111,019,968 (GRCm39)	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,378 (GRCm39)	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,888,626 (GRCm39)		probably null	Het
Col1a1	A	T	11: 94,835,241 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,600,653 (GRCm39)	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,421,543 (GRCm39)	D203G	probably benign	Het
Cyld	C	T	8: 89,458,295 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,302,455 (GRCm39)	I84F	probably damaging	Het
Dennd3	T	A	15: 73,409,267 (GRCm39)		probably benign	Het
Desi2	A	C	1: 178,084,217 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,026,511 (GRCm39)	L1873*	probably null	Het
Dmxl1	T	A	18: 50,036,055 (GRCm39)	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,370,440 (GRCm39)	N880S	possibly damaging	Het
F10	T	C	8: 13,100,764 (GRCm39)	L214P	probably damaging	Het
F5	G	A	1: 164,001,719 (GRCm39)	V141M	probably damaging	Het
Fam135a	A	T	1: 24,065,734 (GRCm39)	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,620,187 (GRCm39)	N232K	probably benign	Het
Fyco1	T	C	9: 123,648,157 (GRCm39)	E1259G	probably benign	Het
Gak	A	T	5: 108,724,448 (GRCm39)	D1087E	probably benign	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,962 (GRCm39)		noncoding transcript	Het
Gpr25	A	G	1: 136,187,866 (GRCm39)	V249A	probably benign	Het
Hcn3	T	C	3: 89,055,426 (GRCm39)	H607R	probably damaging	Het
Hdac4	T	A	1: 91,875,257 (GRCm39)	T905S	probably benign	Het
Itgad	T	C	7: 127,804,279 (GRCm39)	S86P	probably benign	Het
Itgb4	G	T	11: 115,879,744 (GRCm39)	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,779,979 (GRCm39)	T284S	probably benign	Het
Klhl22	T	A	16: 17,594,888 (GRCm39)	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mybpc2	C	A	7: 44,163,099 (GRCm39)	V484L	probably benign	Het
Noa1	A	T	5: 77,454,221 (GRCm39)	V473E	probably benign	Het
Nwd1	C	G	8: 73,393,463 (GRCm39)	S242C	possibly damaging	Het
Or55b10	C	A	7: 102,143,247 (GRCm39)	C245F	probably damaging	Het
Or7e174	A	G	9: 20,012,796 (GRCm39)	H247R	probably damaging	Het
Otof	A	T	5: 30,543,815 (GRCm39)	W535R	probably damaging	Het
Peg3	T	C	7: 6,712,084 (GRCm39)	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,577,529 (GRCm39)	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,994,625 (GRCm39)		probably null	Het
Plce1	G	T	19: 38,705,282 (GRCm39)	A896S	possibly damaging	Het
Prim1	T	C	10: 127,851,193 (GRCm39)	Y26H	probably damaging	Het
Prr12	T	A	7: 44,697,780 (GRCm39)	T712S	unknown	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,740,021 (GRCm39)	E409G	probably benign	Het
Rabep1	A	G	11: 70,795,467 (GRCm39)	N274S	probably damaging	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rec114	A	G	9: 58,560,389 (GRCm39)	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,587,381 (GRCm39)	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,280,239 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 55,561,233 (GRCm39)	H566R	probably benign	Het
Slc9c1	A	G	16: 45,373,291 (GRCm39)	T290A	probably benign	Het
Smarcc1	T	A	9: 110,014,888 (GRCm39)		probably benign	Het
Srp54b	T	A	12: 55,299,544 (GRCm39)		probably null	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Synj1	T	C	16: 90,761,118 (GRCm39)	K710E	probably damaging	Het
Tenm3	T	A	8: 48,763,669 (GRCm39)	D795V	probably damaging	Het
Tmem151a	C	A	19: 5,132,895 (GRCm39)	A104S	probably damaging	Het
Top1mt	A	G	15: 75,538,100 (GRCm39)		probably null	Het
Tpgs1	T	A	10: 79,511,428 (GRCm39)	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,851,428 (GRCm39)	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,676,193 (GRCm39)	I197V	probably damaging	Het
Ube3b	A	G	5: 114,525,506 (GRCm39)	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,530,285 (GRCm39)	S164T	probably benign	Het
Zfp607a	G	T	7: 27,577,884 (GRCm39)	C318F	probably damaging	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
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
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'- GGATGGAATGGGTAACTCTGCCAC -3'
(R):5'- AGTGAGCTTTAGGACCAAGGACTCC -3'

Sequencing Primer
(F):5'- ACTCACATCTTGAACTCTTGGGC -3'
(R):5'- aatatttctgagcctcagttttcc -3'

Posted On

2014-05-23