Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Ticam2'

714294

Institutional Source

Beutler Lab

Gene Symbol

Ticam2

Ensembl Gene

ENSMUSG00000056130

Gene Name

TIR domain containing adaptor molecule 2

Synonyms

TRAM, Tirp

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46691298-46707600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46693766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 107 (I107T)

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

probably damaging
Transcript: ENSMUST00000070084
AA Change: I107T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066239
Gene: ENSMUSG00000056130
AA Change: I107T

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

Coding Region Coverage

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

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh8a1	T	A	10: 21,265,032 (GRCm39)	S220T	probably benign	Het
Ankrd66	A	G	17: 43,845,811 (GRCm39)	V192A	probably benign	Het
Aoc1l3	A	G	6: 48,965,774 (GRCm39)	Y594C	probably damaging	Het
Atp1a2	A	G	1: 172,103,494 (GRCm39)	Y1009H	probably benign	Het
Bptf	A	C	11: 106,935,411 (GRCm39)	M142R	probably damaging	Het
Brwd1	C	T	16: 95,845,703 (GRCm39)	R740Q	probably damaging	Het
C3	A	G	17: 57,531,169 (GRCm39)	M339T	probably benign	Het
Catsperg1	A	G	7: 28,897,772 (GRCm39)		probably null	Het
Cep295nl	T	A	11: 118,224,446 (GRCm39)	K133*	probably null	Het
Copg2	A	T	6: 30,793,786 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,402 (GRCm39)	D89E	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,765,209 (GRCm39)	R826L	probably damaging	Het
Dlg4	G	T	11: 69,922,065 (GRCm39)	K162N	probably damaging	Het
Dna2	T	A	10: 62,790,072 (GRCm39)	L185H	probably benign	Het
Dock9	C	T	14: 121,787,601 (GRCm39)		probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Etl4	A	G	2: 20,813,926 (GRCm39)	I1322V	probably benign	Het
Exd1	T	C	2: 119,355,064 (GRCm39)	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,462 (GRCm39)	T786A	probably damaging	Het
Gm29106	A	C	1: 118,127,644 (GRCm39)	E445D	possibly damaging	Het
Gm5592	T	C	7: 40,935,876 (GRCm39)	L126P	probably damaging	Het
Grep1	A	G	17: 23,936,187 (GRCm39)	Y19H	unknown	Het
Gtf3c2	T	G	5: 31,325,773 (GRCm39)	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,294,100 (GRCm39)	R669S	probably benign	Het
Hivep1	A	G	13: 42,337,252 (GRCm39)	T2444A	probably benign	Het
Hspg2	A	G	4: 137,238,380 (GRCm39)	E289G	probably damaging	Het
Htatip2	C	A	7: 49,408,987 (GRCm39)	T9K	unknown	Het
Ifngr1	T	C	10: 19,483,041 (GRCm39)	V265A	possibly damaging	Het
Ift140	A	G	17: 25,252,925 (GRCm39)	N359D	probably benign	Het
Mat1a	A	G	14: 40,836,803 (GRCm39)	R178G	probably damaging	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Myh14	C	T	7: 44,273,743 (GRCm39)		probably null	Het
Myof	A	G	19: 37,966,096 (GRCm39)		probably null	Het
Nfe2l1	G	T	11: 96,718,453 (GRCm39)	D27E	probably damaging	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Or4a15	A	T	2: 89,193,243 (GRCm39)	C177S	probably damaging	Het
Or4k51	T	C	2: 111,585,218 (GRCm39)	V208A	probably benign	Het
Or5p61	A	G	7: 107,758,468 (GRCm39)	V204A	probably benign	Het
Or8s5	A	G	15: 98,238,144 (GRCm39)	V242A	possibly damaging	Het
Plec	C	A	15: 76,067,987 (GRCm39)	Q1139H	unknown	Het
Plxna2	T	A	1: 194,326,692 (GRCm39)	S209T	probably benign	Het
Plxnd1	T	C	6: 115,940,277 (GRCm39)	E1369G	possibly damaging	Het
Psd3	T	C	8: 68,363,487 (GRCm39)	I3V	unknown	Het
Pwp1	T	A	10: 85,714,428 (GRCm39)	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,775,354 (GRCm39)	M1I	probably null	Het
Rad54l2	T	C	9: 106,585,488 (GRCm39)	K759R	probably benign	Het
Rims2	G	T	15: 39,300,724 (GRCm39)	V344L	probably damaging	Het
Robo1	G	A	16: 72,803,718 (GRCm39)	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,282,745 (GRCm39)		probably benign	Het
Serhl	A	C	15: 82,987,167 (GRCm39)	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,075,392 (GRCm39)		probably null	Het
Slc27a1	T	A	8: 72,032,808 (GRCm39)	Y248*	probably null	Het
Slitrk3	T	A	3: 72,958,616 (GRCm39)	E52V	possibly damaging	Het
Snx2	T	C	18: 53,343,415 (GRCm39)	V271A	probably benign	Het
Snx9	C	A	17: 5,949,768 (GRCm39)	P156Q	probably damaging	Het
Spag6	C	A	2: 18,715,369 (GRCm39)	Y71*	probably null	Het
Speer4a3	T	A	5: 26,156,569 (GRCm39)	K137*	probably null	Het
Speg	A	G	1: 75,394,377 (GRCm39)	D1724G	probably damaging	Het
Syt7	A	G	19: 10,421,532 (GRCm39)	N572S	probably damaging	Het
Thoc2l	C	A	5: 104,668,644 (GRCm39)	S1055R	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,488,256 (GRCm39)	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663 (GRCm39)	T519A	possibly damaging	Het
Trim43b	G	A	9: 88,973,608 (GRCm39)	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,852,089 (GRCm39)	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,158 (GRCm39)	D97G	probably benign	Het
Uncx	A	G	5: 139,532,475 (GRCm39)	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Vmn2r51	A	T	7: 9,833,816 (GRCm39)	H407Q	probably damaging	Het
Wdfy4	C	T	14: 32,855,518 (GRCm39)	E699K		Het
Wdr95	A	G	5: 149,504,165 (GRCm39)	T324A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGATGGTTTGCAGCGCC -3'
(R):5'- TGGATCAGAGCCACCAACAG -3'

Sequencing Primer
(F):5'- TTTGCAGCGCCAAGGGAG -3'
(R):5'- TCAGAGCCACCAACAGGAGAG -3'

Posted On

2022-06-15