Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:Ticam2'

18425

Institutional Source

Beutler Lab

Gene Symbol

Ticam2

Ensembl Gene

ENSMUSG00000056130

Gene Name

TIR domain containing adaptor molecule 2

Synonyms

TRAM, Tirp

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0056 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

46691298-46707600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46693401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 229 (Q229K)

Ref Sequence

ENSEMBL: ENSMUSP00000066239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036030] [ENSMUST00000070084]

AlphaFold

Q8BJQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000036030

SMART Domains

Protein: ENSMUSP00000043660
Gene: ENSMUSG00000033184

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
EMP24_GP25L	36	188	1.1e-45	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070084
AA Change: Q229K

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066239
Gene: ENSMUSG00000056130
AA Change: Q229K

Domain	Start	End	E-Value	Type
Pfam:TIR_2	78	192	2e-10	PFAM

Meta Mutation Damage Score

0.0732

Coding Region Coverage

1x: 89.2%
3x: 86.3%
10x: 78.7%
20x: 65.9%

Validation Efficiency

89% (66/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous inactivation of this gene affects TLR4-mediated immune responses. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,540 (GRCm39)	C561*	probably null	Het
Ankfn1	A	G	11: 89,282,502 (GRCm39)	S1061P	possibly damaging	Het
Atp9b	A	G	18: 80,809,018 (GRCm39)	S634P	probably damaging	Het
Bche	A	T	3: 73,608,654 (GRCm39)	N257K	possibly damaging	Het
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
C630050I24Rik	G	T	8: 107,846,026 (GRCm39)	V59F	unknown	Het
Camkk2	C	T	5: 122,880,261 (GRCm39)	E452K	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,118 (GRCm39)	Y278C	probably damaging	Het
Chd9	A	G	8: 91,660,165 (GRCm39)	H375R	possibly damaging	Het
Entpd7	T	A	19: 43,713,733 (GRCm39)	V364E	probably benign	Het
Epb41l3	A	T	17: 69,560,392 (GRCm39)	D313V	probably damaging	Het
Etv6	G	T	6: 134,225,497 (GRCm39)	E154*	probably null	Het
Fshr	T	G	17: 89,295,885 (GRCm39)	H274P	probably damaging	Het
G3bp1	A	G	11: 55,388,867 (GRCm39)	N360D	probably benign	Het
Gdf11	C	T	10: 128,722,294 (GRCm39)	R187H	probably benign	Het
Gpihbp1	T	A	15: 75,468,982 (GRCm39)	I52N	probably damaging	Het
H1f8	G	T	6: 115,923,934 (GRCm39)		probably benign	Het
Htt	T	C	5: 34,983,422 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,014 (GRCm39)	Q324R	probably benign	Het
Kcng3	A	G	17: 83,895,185 (GRCm39)	L427P	probably damaging	Het
Klk7	T	C	7: 43,461,434 (GRCm39)	L17P	possibly damaging	Het
Klrd1	G	A	6: 129,570,738 (GRCm39)	V50I	probably benign	Het
Lama5	A	T	2: 179,828,899 (GRCm39)		probably benign	Het
Lamtor3	T	A	3: 137,632,711 (GRCm39)		probably benign	Het
Lyplal1	G	A	1: 185,820,763 (GRCm39)	T228I	probably benign	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marchf6	T	C	15: 31,467,880 (GRCm39)	T776A	possibly damaging	Het
Mogat1	T	G	1: 78,500,407 (GRCm39)	M157R	probably damaging	Het
Morc2b	T	A	17: 33,357,733 (GRCm39)	Q13L	possibly damaging	Het
Myo1h	C	T	5: 114,468,273 (GRCm39)	T356I	probably damaging	Het
Ncoa2	C	A	1: 117,516,497 (GRCm38)		probably null	Het
Nobox	A	G	6: 43,281,853 (GRCm39)	C407R	probably benign	Het
Nup58	A	G	14: 60,476,924 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,329 (GRCm39)	S187P	probably benign	Het
Otoa	A	G	7: 120,730,570 (GRCm39)	Y590C	probably benign	Het
Pelp1	A	T	11: 70,284,658 (GRCm39)	V1070E	unknown	Het
Pglyrp3	G	T	3: 91,933,111 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,363,063 (GRCm39)	F189S	probably damaging	Het
Polr2b	T	C	5: 77,482,382 (GRCm39)	I640T	possibly damaging	Het
Ryr2	T	A	13: 11,683,924 (GRCm39)	T3047S	probably damaging	Het
Snx25	A	T	8: 46,491,550 (GRCm39)	W847R	probably damaging	Het
Son	T	C	16: 91,475,043 (GRCm39)	Y454H	possibly damaging	Het
Sos1	A	T	17: 80,721,050 (GRCm39)	N923K	probably damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Tnfaip3	A	T	10: 18,881,041 (GRCm39)	V342E	probably damaging	Het
Traf6	A	G	2: 101,527,496 (GRCm39)	I415M	possibly damaging	Het
Trpm1	A	G	7: 63,893,334 (GRCm39)	D1062G	probably damaging	Het
Wdr59	C	T	8: 112,207,239 (GRCm39)		probably benign	Het

Other mutations in Ticam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Ticam2	APN	18	46,693,880 (GRCm39)	missense	probably benign	0.04
Branch	UTSW	18	46,693,718 (GRCm39)	missense	probably damaging	1.00
Consequential	UTSW	18	46,693,846 (GRCm39)	missense	probably damaging	1.00
Messi	UTSW	18	46,693,989 (GRCm39)	nonsense	probably null
R0056:Ticam2	UTSW	18	46,693,401 (GRCm39)	missense	possibly damaging	0.61
R0666:Ticam2	UTSW	18	46,693,718 (GRCm39)	missense	probably damaging	1.00
R1676:Ticam2	UTSW	18	46,693,677 (GRCm39)	missense	probably damaging	1.00
R2209:Ticam2	UTSW	18	46,693,467 (GRCm39)	missense	probably damaging	1.00
R4927:Ticam2	UTSW	18	46,693,846 (GRCm39)	missense	probably damaging	1.00
R4928:Ticam2	UTSW	18	46,693,989 (GRCm39)	nonsense	probably null
R6841:Ticam2	UTSW	18	46,693,998 (GRCm39)	missense	probably benign	0.02
R7489:Ticam2	UTSW	18	46,693,584 (GRCm39)	missense	probably damaging	1.00
R8407:Ticam2	UTSW	18	46,693,590 (GRCm39)	missense	probably damaging	1.00
R9166:Ticam2	UTSW	18	46,694,048 (GRCm39)	missense	probably damaging	1.00
R9451:Ticam2	UTSW	18	46,693,766 (GRCm39)	missense	probably damaging	1.00
R9467:Ticam2	UTSW	18	46,693,748 (GRCm39)	missense	probably damaging	1.00
R9508:Ticam2	UTSW	18	46,693,748 (GRCm39)	missense	probably damaging	1.00
R9711:Ticam2	UTSW	18	46,693,658 (GRCm39)	missense	probably damaging	1.00
Z1177:Ticam2	UTSW	18	46,693,915 (GRCm39)	missense	possibly damaging	0.85

Posted On

2013-03-25