Mutagenetix > Incidental Mutation

Incidental Mutation 'R9509:Tgm2'

717982

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

Accession Numbers

Essential gene?

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

Stock #

R9509 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157958325-157988312 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 157969210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 388 (Y388*)

Ref Sequence

ENSEMBL: ENSMUSP00000099411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103122] [ENSMUST00000152452] [ENSMUST00000174718]

AlphaFold

P21981

Predicted Effect

probably null
Transcript: ENSMUST00000103122
AA Change: Y388*

SMART Domains

Protein: ENSMUSP00000099411
Gene: ENSMUSG00000037820
AA Change: Y388*

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Acan	C	T	7: 78,740,768 (GRCm39)	P378L	probably damaging	Het
Akap6	A	G	12: 53,189,021 (GRCm39)	D2145G	probably damaging	Het
Akap9	A	T	5: 4,096,349 (GRCm39)	D2408V	probably benign	Het
Apol10a	C	A	15: 77,372,968 (GRCm39)	Y201*	probably null	Het
Arhgef4	T	C	1: 34,762,772 (GRCm39)	I676T	unknown	Het
Capn13	T	C	17: 73,644,446 (GRCm39)	H361R	probably benign	Het
Ccdc88a	G	A	11: 29,414,143 (GRCm39)	V894I	probably benign	Het
Chd4	T	A	6: 125,099,485 (GRCm39)	L1655Q	possibly damaging	Het
Chi3l1	G	A	1: 134,116,413 (GRCm39)	E307K	probably damaging	Het
Dhfr	T	A	13: 92,504,739 (GRCm39)	I139N	probably damaging	Het
Dock8	A	G	19: 25,072,985 (GRCm39)	S422G	probably benign	Het
Dspp	C	A	5: 104,325,657 (GRCm39)	D673E	unknown	Het
Dst	G	T	1: 33,947,465 (GRCm39)	W38L	possibly damaging	Het
Dynlt1b	A	T	17: 6,702,415 (GRCm39)	E26D	probably benign	Het
Dysf	A	T	6: 84,187,779 (GRCm39)	Y2059F	probably damaging	Het
Efcab5	G	A	11: 76,994,977 (GRCm39)	S1198F	possibly damaging	Het
Erp44	T	C	4: 48,208,750 (GRCm39)	I237V	probably benign	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fat2	A	G	11: 55,200,713 (GRCm39)	V787A	possibly damaging	Het
Fbn2	C	G	18: 58,247,550 (GRCm39)	G448A	probably benign	Het
Fbxw21	A	G	9: 108,977,217 (GRCm39)	V164A	possibly damaging	Het
Gabpa	G	A	16: 84,649,395 (GRCm39)	V201I	possibly damaging	Het
Gm12253	G	A	11: 58,330,771 (GRCm39)	V177M	probably benign	Het
Il2rb	C	A	15: 78,374,416 (GRCm39)	W84L	probably damaging	Het
Kank4	T	A	4: 98,663,104 (GRCm39)	T695S	possibly damaging	Het
Klhl29	T	C	12: 5,190,629 (GRCm39)	Q122R	probably damaging	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Lifr	A	G	15: 7,188,955 (GRCm39)	Y112C	probably damaging	Het
Lins1	C	T	7: 66,358,119 (GRCm39)	Q85*	probably null	Het
Lpcat1	T	A	13: 73,642,951 (GRCm39)	V175E	probably damaging	Het
Mdm1	T	C	10: 117,982,730 (GRCm39)	S122P	probably damaging	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Mylk4	T	C	13: 32,904,543 (GRCm39)	N197S	probably benign	Het
Neurl4	T	A	11: 69,792,971 (GRCm39)	L83*	probably null	Het
Nlrc3	T	C	16: 3,782,680 (GRCm39)	D259G	probably damaging	Het
Nsf	A	T	11: 103,754,074 (GRCm39)	D487E	probably benign	Het
Or2n1e	A	G	17: 38,586,281 (GRCm39)	I206M	probably benign	Het
Or2y1	A	G	11: 49,385,476 (GRCm39)	I39V	probably benign	Het
Or5p50	T	A	7: 107,422,440 (GRCm39)	T79S	probably benign	Het
Palb2	T	A	7: 121,727,399 (GRCm39)	K157M	probably damaging	Het
Pbrm1	T	C	14: 30,806,914 (GRCm39)	S1114P	probably damaging	Het
Pdia6	T	A	12: 17,330,989 (GRCm39)	M364K	probably damaging	Het
Pf4	G	T	5: 90,921,048 (GRCm39)	G83W	probably damaging	Het
Pibf1	T	C	14: 99,338,721 (GRCm39)	M79T	probably benign	Het
Pip4p2	T	A	4: 14,892,485 (GRCm39)	C116*	probably null	Het
Polr3b	T	G	10: 84,467,650 (GRCm39)	Y77D	probably damaging	Het
Pomt2	T	A	12: 87,184,802 (GRCm39)	H208L	possibly damaging	Het
Pprc1	A	T	19: 46,051,838 (GRCm39)	K456M	unknown	Het
Rasgef1a	A	T	6: 118,061,391 (GRCm39)	K119*	probably null	Het
Rbbp6	T	A	7: 122,597,791 (GRCm39)	Y701N	unknown	Het
Relch	A	G	1: 105,614,704 (GRCm39)	E216G	probably damaging	Het
Reln	A	T	5: 22,549,198 (GRCm39)	V70E	possibly damaging	Het
Rgs17	T	C	10: 5,812,576 (GRCm39)	N41S	probably benign	Het
Rhbdf1	A	T	11: 32,165,055 (GRCm39)	I106N	possibly damaging	Het
Robo1	T	A	16: 72,759,167 (GRCm39)	N393K	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scart2	T	A	7: 139,879,644 (GRCm39)	Y1093*	probably null	Het
Scnn1a	A	T	6: 125,319,604 (GRCm39)	D495V	probably damaging	Het
Serpinf2	G	A	11: 75,328,895 (GRCm39)	P45L	probably benign	Het
Setdb1	A	C	3: 95,261,900 (GRCm39)	I122S	possibly damaging	Het
Slc4a9	A	T	18: 36,668,443 (GRCm39)	M701L	probably damaging	Het
Spata31h1	A	T	10: 82,132,229 (GRCm39)	N260K	probably benign	Het
Supv3l1	T	C	10: 62,265,411 (GRCm39)	T710A	probably benign	Het
Syne1	A	T	10: 5,298,927 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,766,292 (GRCm39)	Y743*	probably null	Het
Tor3a	A	G	1: 156,483,499 (GRCm39)	S308P	possibly damaging	Het
Trim12a	T	C	7: 103,953,551 (GRCm39)	K187E	probably benign	Het
Trpc1	C	T	9: 95,625,249 (GRCm39)		probably null	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ush2a	T	A	1: 188,648,440 (GRCm39)	Y4682N	probably damaging	Het
Vldlr	A	G	19: 27,221,687 (GRCm39)	N684S	probably benign	Het
Vmn2r72	T	A	7: 85,404,075 (GRCm39)	I39L	probably benign	Het
Vps13b	A	T	15: 35,841,457 (GRCm39)	M2496L	possibly damaging	Het
Zbtb5	C	T	4: 44,994,332 (GRCm39)	V351M	probably damaging	Het
Zeb2	T	A	2: 44,887,876 (GRCm39)	T394S	possibly damaging	Het
Zfp352	A	G	4: 90,112,943 (GRCm39)	E361G	probably damaging	Het
Zfp54	C	A	17: 21,654,629 (GRCm39)	Y374*	probably null	Het
Zfp869	C	A	8: 70,159,596 (GRCm39)	G326W	probably damaging	Het
Zfyve28	C	T	5: 34,354,892 (GRCm39)	A806T	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
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
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
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'- GGTGCTTATCTGTAAGGCTCC -3'
(R):5'- AAGCGTTATCTGATCTGAGGGC -3'

Sequencing Primer
(F):5'- TCTGTAAGGCTCCATTAAAGGC -3'
(R):5'- ATCTGATCTGAGGGCTTTCATGC -3'

Posted On

2022-07-18