Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Tgm2'

662558

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

068576-MU

Accession Numbers

Essential gene?

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

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157958325-157988312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157962065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 585 (N585D)

Ref Sequence

ENSEMBL: ENSMUSP00000099411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103122] [ENSMUST00000152452]

AlphaFold

P21981

Predicted Effect

probably benign
Transcript: ENSMUST00000103122
AA Change: N585D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: N585D

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	G	14: 66,295,086 (GRCm39)	L253P	probably damaging	Het
Adamts20	C	T	15: 94,229,281 (GRCm39)	G946D	probably benign	Het
Afdn	A	G	17: 14,119,207 (GRCm39)	R1648G	probably damaging	Het
Ak9	G	A	10: 41,282,959 (GRCm39)	A1242T		Het
Anxa9	T	C	3: 95,209,979 (GRCm39)	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,796,152 (GRCm39)	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,588,026 (GRCm39)	M122L	possibly damaging	Het
Bltp3b	A	T	10: 89,618,582 (GRCm39)	M274L	probably benign	Het
Bms1	A	G	6: 118,369,331 (GRCm39)	I990T	possibly damaging	Het
Ccdc9b	T	C	2: 118,587,793 (GRCm39)	T514A	probably benign	Het
Cdk14	G	A	5: 5,470,117 (GRCm39)		silent	Het
Celsr3	T	C	9: 108,723,940 (GRCm39)	L2899S	probably benign	Het
Ces1b	A	T	8: 93,798,576 (GRCm39)	D203E	probably benign	Het
Cnnm1	A	G	19: 43,473,365 (GRCm39)	N753S	probably benign	Het
Col19a1	C	T	1: 24,365,113 (GRCm39)	G501R	probably damaging	Het
Cym	A	G	3: 107,125,991 (GRCm39)	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,614,605 (GRCm39)	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,035,122 (GRCm39)		probably null	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dagla	G	A	19: 10,225,771 (GRCm39)	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,724,005 (GRCm39)	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,109,929 (GRCm39)	L28P	probably benign	Het
Ddr2	T	C	1: 169,829,552 (GRCm39)	D234G	possibly damaging	Het
Fam83a	T	A	15: 57,873,062 (GRCm39)	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,119,243 (GRCm39)	D426V	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm43302	T	C	5: 105,438,793 (GRCm39)	I32V	probably benign	Het
Gm9944	T	C	4: 144,179,601 (GRCm39)	Y96C	unknown	Het
Hdac1-ps	A	G	17: 78,800,332 (GRCm39)	K441R	probably benign	Het
Impdh2	C	T	9: 108,437,562 (GRCm39)		probably benign	Het
Iws1	G	A	18: 32,216,334 (GRCm39)	R358Q	probably damaging	Het
Kctd18	G	T	1: 58,002,289 (GRCm39)	D179E	probably damaging	Het
Krt13	T	G	11: 100,012,318 (GRCm39)	S2R	probably null	Het
Krt78	A	T	15: 101,856,225 (GRCm39)	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,534,788 (GRCm39)	C25S	unknown	Het
Lama1	T	C	17: 68,125,663 (GRCm39)	I2940T		Het
Lmnb2	A	G	10: 80,740,913 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,822,555 (GRCm39)	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,258,656 (GRCm39)	T67M	probably benign	Het
Malrd1	T	A	2: 15,701,753 (GRCm39)	C789*	probably null	Het
Mei1	T	G	15: 81,966,182 (GRCm39)	V268G		Het
Mical3	C	A	6: 120,950,514 (GRCm39)	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,480 (GRCm39)	P29L	probably benign	Het
Mroh2b	T	C	15: 4,935,122 (GRCm39)	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952 (GRCm38)	T1609S	unknown	Het
Myrfl	A	T	10: 116,634,545 (GRCm39)	C616*	probably null	Het
Ncor1	C	T	11: 62,221,685 (GRCm39)	A946T	probably benign	Het
Or10al6	C	A	17: 38,082,642 (GRCm39)	L33M	probably damaging	Het
Or2t48	T	C	11: 58,420,027 (GRCm39)	T262A	probably benign	Het
Pbp2	T	C	6: 135,287,104 (GRCm39)	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,115,862 (GRCm39)	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 13,116,165 (GRCm39)	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,855,261 (GRCm39)	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,636,873 (GRCm39)		probably null	Het
Rbm4b	G	A	19: 4,812,219 (GRCm39)	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615 (GRCm39)	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,703 (GRCm39)	V238A	probably damaging	Het
Sesn1	G	T	10: 41,779,771 (GRCm39)	G402W	probably damaging	Het
Six4	A	G	12: 73,159,180 (GRCm39)	V260A	probably benign	Het
Srrm2	G	A	17: 24,038,831 (GRCm39)	R1825Q	unknown	Het
Stat1	G	A	1: 52,178,353 (GRCm39)	W262*	probably null	Het
Tcf20	A	T	15: 82,739,158 (GRCm39)	D764E	probably damaging	Het
Tmf1	A	T	6: 97,133,821 (GRCm39)	L1039H	probably damaging	Het
Trak2	A	G	1: 58,974,934 (GRCm39)	V86A	probably benign	Het
Ttc39b	A	G	4: 83,171,247 (GRCm39)	I202T	probably damaging	Het
Vmn1r30	A	G	6: 58,412,460 (GRCm39)	F124S	probably benign	Het
Vwa7	T	A	17: 35,236,133 (GRCm39)	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,559,079 (GRCm39)	M281L	probably benign	Het
Zfand2a	C	T	5: 139,467,753 (GRCm39)	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,034,819 (GRCm39)	A935P	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
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
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'- AGGCTTCAAGTCCTGCATTCTC -3'
(R):5'- AGCACCTGTTTGGCAAGAGAG -3'

Sequencing Primer
(F):5'- GGCTTCAAGTCCTGCATTCTCTTATC -3'
(R):5'- GTTGATCAGATCCAGCCCTCATAG -3'

Posted On

2021-03-08