Mutagenetix > Incidental Mutation

Incidental Mutation 'R1776:Tgm2'

196997

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

039807-MU

Accession Numbers

Essential gene?

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

Stock #

R1776 (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 157973379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 244 (N244S)

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: N244S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: N244S

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

0.0750

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

98% (86/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,711,058 (GRCm39)		noncoding transcript	Het
9430097D07Rik	T	C	2: 32,464,767 (GRCm39)		probably benign	Het
A2m	C	G	6: 121,618,383 (GRCm39)	F225L	probably damaging	Het
Adamts19	T	A	18: 59,087,692 (GRCm39)	I574N	probably damaging	Het
Ankfn1	T	C	11: 89,417,300 (GRCm39)	D104G	possibly damaging	Het
Ankhd1	T	A	18: 36,780,361 (GRCm39)	N1804K	probably benign	Het
Ankle1	G	T	8: 71,861,918 (GRCm39)	V474F	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Cass4	A	T	2: 172,269,615 (GRCm39)	I568L	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdx1	G	A	18: 61,169,086 (GRCm39)	A36V	probably benign	Het
Cep57	A	T	9: 13,730,170 (GRCm39)	S123T	probably damaging	Het
Clca3a2	T	A	3: 144,519,681 (GRCm39)	Q231L	probably damaging	Het
Clcnkb	T	C	4: 141,142,500 (GRCm39)		probably benign	Het
Crabp2	C	A	3: 87,860,301 (GRCm39)	T125K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dnajb6	T	C	5: 29,990,091 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,380,593 (GRCm39)	I1847N	probably damaging	Het
Dync1h1	T	C	12: 110,599,362 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Fbn1	A	C	2: 125,163,654 (GRCm39)	F2067L	possibly damaging	Het
Fbxo16	T	A	14: 65,532,835 (GRCm39)		probably null	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gm5250	A	G	1: 13,132,564 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,067,007 (GRCm39)	S503P	possibly damaging	Het
Herc4	T	A	10: 63,099,950 (GRCm39)	C124*	probably null	Het
Ift27	T	C	15: 78,050,181 (GRCm39)	D76G	probably null	Het
Igdcc3	C	T	9: 65,090,034 (GRCm39)	Q550*	probably null	Het
Igsf6	T	A	7: 120,667,522 (GRCm39)	I165F	probably damaging	Het
Il31ra	T	C	13: 112,677,773 (GRCm39)	I173M	probably damaging	Het
Kbtbd6	G	A	14: 79,690,045 (GRCm39)	D247N	probably benign	Het
Kcnq2	T	A	2: 180,742,350 (GRCm39)	T394S	probably benign	Het
Mia2	A	G	12: 59,196,361 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,591,933 (GRCm39)	Q419R	probably benign	Het
Mylk	A	G	16: 34,773,152 (GRCm39)	D1250G	probably benign	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlk	T	A	11: 78,477,853 (GRCm39)	M297L	probably benign	Het
Nsl1	G	T	1: 190,795,385 (GRCm39)	M50I	probably benign	Het
Numa1	A	G	7: 101,660,257 (GRCm39)	T441A	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10d1c	G	A	9: 38,894,190 (GRCm39)	S50F	probably damaging	Het
Or6c69b	C	T	10: 129,627,000 (GRCm39)	V153I	probably benign	Het
Or8b12i	G	A	9: 20,082,105 (GRCm39)	T254I	probably benign	Het
Ovgp1	A	T	3: 105,885,114 (GRCm39)	H151L	possibly damaging	Het
Pigz	G	A	16: 31,763,397 (GRCm39)	E152K	probably damaging	Het
Plxna1	A	T	6: 89,312,446 (GRCm39)	D779E	probably benign	Het
Ppil4	A	T	10: 7,686,201 (GRCm39)	E353V	probably benign	Het
Ptprq	C	T	10: 107,520,950 (GRCm39)	G741S	probably damaging	Het
Rplp0	T	C	5: 115,700,524 (GRCm39)	Y231H	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rundc3b	T	C	5: 8,629,050 (GRCm39)	E117G	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,787,598 (GRCm39)	M198K	probably damaging	Het
Sdhd	T	C	9: 50,508,500 (GRCm39)	K122R	probably benign	Het
Senp2	T	C	16: 21,861,810 (GRCm39)		probably benign	Het
Setd3	C	A	12: 108,131,420 (GRCm39)	G2V	probably damaging	Het
Sfxn5	A	G	6: 85,244,927 (GRCm39)		probably benign	Het
She	T	A	3: 89,739,345 (GRCm39)	S179T	possibly damaging	Het
Slc24a2	G	A	4: 87,094,526 (GRCm39)	T331I	probably benign	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Slc9a4	T	C	1: 40,668,447 (GRCm39)	S697P	probably benign	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spata31d1b	A	G	13: 59,864,381 (GRCm39)	T510A	probably benign	Het
Srgap2	T	A	1: 131,339,588 (GRCm39)	I125F	probably damaging	Het
Stab2	T	A	10: 86,793,680 (GRCm39)	I472F	possibly damaging	Het
Taar7f	C	T	10: 23,925,546 (GRCm39)	R47C	probably benign	Het
Tbc1d19	T	A	5: 54,046,653 (GRCm39)		probably null	Het
Tbc1d21	T	A	9: 58,274,011 (GRCm39)		probably benign	Het
Tcaf1	A	G	6: 42,655,389 (GRCm39)	I529T	possibly damaging	Het
Tgfbr2	A	T	9: 116,004,035 (GRCm39)	I24N	possibly damaging	Het
Tgm1	T	C	14: 55,946,854 (GRCm39)	T385A	probably damaging	Het
Thoc5	T	C	11: 4,864,517 (GRCm39)		probably benign	Het
Tmc2	A	T	2: 130,076,789 (GRCm39)	I372F	probably damaging	Het
Tnrc6a	A	G	7: 122,770,520 (GRCm39)	D222G	probably damaging	Het
Trhde	T	G	10: 114,636,508 (GRCm39)	N233T	probably benign	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc22	A	T	4: 106,496,237 (GRCm39)	D429V	possibly damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ush2a	A	G	1: 188,460,400 (GRCm39)	I2554V	possibly damaging	Het
Usp16	A	G	16: 87,276,204 (GRCm39)	D513G	probably damaging	Het
Vip	T	C	10: 5,594,992 (GRCm39)		probably null	Het
Vmn1r4	A	G	6: 56,934,023 (GRCm39)	I176V	probably benign	Het
Zfp804b	T	C	5: 6,819,806 (GRCm39)	T1050A	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
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'- CTGGAACACTTGATGCCCTGAGAC -3'
(R):5'- AATCCTTCATCCTGGCATGGCCTG -3'

Sequencing Primer
(F):5'- tgtcccaagtccacccag -3'
(R):5'- GCATGGCCTGACTTTGATCC -3'

Posted On

2014-05-23