Mutagenetix > Incidental Mutation

Incidental Mutation 'R2209:Ticam2'

239294

Institutional Source

Beutler Lab

Gene Symbol

Ticam2

Ensembl Gene

ENSMUSG00000056130

Gene Name

TIR domain containing adaptor molecule 2

Synonyms

TRAM, Tirp

MMRRC Submission

040211-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46691298-46707600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46693467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 207 (F207I)

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: F207I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066239
Gene: ENSMUSG00000056130
AA Change: F207I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,884,227 (GRCm39)	E330G	possibly damaging	Het
Apob	A	C	12: 8,057,752 (GRCm39)	D2078A	probably benign	Het
Arhgap21	T	A	2: 20,854,331 (GRCm39)	Q1681L	probably damaging	Het
Arsb	A	G	13: 93,998,609 (GRCm39)	T306A	probably benign	Het
Brpf3	G	A	17: 29,047,394 (GRCm39)	D1053N	probably damaging	Het
Cenpf	A	T	1: 189,384,795 (GRCm39)	I2495N	probably benign	Het
Col12a1	T	C	9: 79,599,634 (GRCm39)	K840E	possibly damaging	Het
Cry1	A	G	10: 84,982,619 (GRCm39)	L269P	probably damaging	Het
Cyp21a1	C	A	17: 35,021,701 (GRCm39)	E289*	probably null	Het
Dcp2	A	T	18: 44,538,581 (GRCm39)	K215*	probably null	Het
Dnaaf11	A	G	15: 66,321,400 (GRCm39)	I247T	probably benign	Het
Ecm2	A	G	13: 49,683,632 (GRCm39)	N537D	probably damaging	Het
Emid1	G	A	11: 5,085,407 (GRCm39)	T113M	probably benign	Het
Exoc8	C	T	8: 125,622,918 (GRCm39)	W483*	probably null	Het
Fes	A	T	7: 80,030,031 (GRCm39)	N582K	probably damaging	Het
Flnb	G	T	14: 7,905,507 (GRCm38)	E1086*	probably null	Het
Flnc	T	A	6: 29,455,844 (GRCm39)	D2058E	possibly damaging	Het
Gatb	G	A	3: 85,561,112 (GRCm39)	D543N	probably benign	Het
Gm14412	A	G	2: 177,009,229 (GRCm39)	V9A	probably damaging	Het
Gm4884	T	C	7: 40,692,745 (GRCm39)	V238A	possibly damaging	Het
Igfbp5	A	G	1: 72,913,096 (GRCm39)	V68A	possibly damaging	Het
Igflr1	T	A	7: 30,267,222 (GRCm39)	I330N	probably damaging	Het
Il1r2	A	G	1: 40,154,298 (GRCm39)	T222A	probably benign	Het
Krt87	T	C	15: 101,330,989 (GRCm39)	E419G	probably benign	Het
Lman2	A	G	13: 55,499,315 (GRCm39)	S187P	probably damaging	Het
Mrpl38	T	C	11: 116,029,288 (GRCm39)	E76G	possibly damaging	Het
Mtx3	A	G	13: 92,984,112 (GRCm39)	I130V	probably benign	Het
Naf1	T	G	8: 67,313,188 (GRCm39)		probably benign	Het
Nkx2-1	T	G	12: 56,580,293 (GRCm39)	M216L	probably benign	Het
Notch1	C	A	2: 26,350,019 (GRCm39)	V2374L	probably benign	Het
Nrxn2	A	G	19: 6,543,037 (GRCm39)	D1087G	probably benign	Het
Nudt8	T	C	19: 4,051,902 (GRCm39)	F171S	probably damaging	Het
Or5an1	T	G	19: 12,261,224 (GRCm39)	F271V	probably benign	Het
Pds5a	A	T	5: 65,785,357 (GRCm39)	C916*	probably null	Het
Phyhip	A	T	14: 70,699,334 (GRCm39)	N46Y	probably damaging	Het
Pomt1	A	G	2: 32,140,874 (GRCm39)	Y502C	possibly damaging	Het
Prkcg	A	C	7: 3,352,097 (GRCm39)		probably benign	Het
Prl8a6	C	T	13: 27,619,369 (GRCm39)	E118K	probably benign	Het
Prpf39	T	C	12: 65,104,689 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,205,262 (GRCm39)	H2159R	probably damaging	Het
Ripor2	A	T	13: 24,885,595 (GRCm39)	D571V	probably damaging	Het
Rps19	C	T	7: 24,584,552 (GRCm39)	L34F	probably benign	Het
Rusc1	A	G	3: 88,996,128 (GRCm39)	S145P	probably damaging	Het
Scn4a	T	A	11: 106,230,051 (GRCm39)	T586S	probably damaging	Het
Slc7a12	A	G	3: 14,546,124 (GRCm39)	S90G	possibly damaging	Het
Specc1l	A	G	10: 75,082,410 (GRCm39)	D619G	probably damaging	Het
Src	A	G	2: 157,304,710 (GRCm39)	D143G	probably benign	Het
Sst	T	C	16: 23,708,558 (GRCm39)	N91S	probably benign	Het
Stxbp5l	T	A	16: 37,036,398 (GRCm39)	I406F	probably damaging	Het
Thsd1	T	A	8: 22,748,887 (GRCm39)	I525N	probably damaging	Het
Tsc22d1	C	A	14: 76,656,180 (GRCm39)	N31K	probably damaging	Het
Tspan10	T	C	11: 120,336,989 (GRCm39)	V253A	probably benign	Het
Ttc33	A	G	15: 5,237,924 (GRCm39)	K99R	possibly damaging	Het
Vmn1r63	T	A	7: 5,806,212 (GRCm39)	N140I	probably damaging	Het
Yju2b	C	T	8: 84,990,498 (GRCm39)	V45I	probably benign	Het
Zbtb25	A	G	12: 76,395,903 (GRCm39)	*440Q	probably null	Het
Zfhx4	T	A	3: 5,461,978 (GRCm39)	C1218S	probably damaging	Het
Zfp84	T	A	7: 29,476,607 (GRCm39)	I433N	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCCACAGATTTCTTGGAAGCAG -3'
(R):5'- GAACTTCCTAAGAGACACCTGG -3'

Sequencing Primer
(F):5'- TTCTTGGAAGCAGACTCACG -3'
(R):5'- ACACCTGGTGTAACTTCCAG -3'

Posted On

2014-10-15