Mutagenetix > Incidental Mutation

Incidental Mutation 'R6841:Ticam2'

538062

Institutional Source

Beutler Lab

Gene Symbol

Ticam2

Ensembl Gene

ENSMUSG00000056130

Gene Name

TIR domain containing adaptor molecule 2

Synonyms

TRAM, Tirp

MMRRC Submission

044947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46691298-46707600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46693998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 30 (S30A)

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 benign
Transcript: ENSMUST00000070084
AA Change: S30A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000066239
Gene: ENSMUSG00000056130
AA Change: S30A

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

Meta Mutation Damage Score

0.0901

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	G	A	11: 6,150,439 (GRCm39)	W137*	probably null	Het
Acads	G	A	5: 115,250,417 (GRCm39)	T169I	probably benign	Het
Adgrg7	T	A	16: 56,570,787 (GRCm39)	N414Y	probably damaging	Het
Ankrd35	T	A	3: 96,577,742 (GRCm39)	S6T	probably damaging	Het
Armc3	A	G	2: 19,206,630 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,496,140 (GRCm39)	V555F	possibly damaging	Het
Bltp1	A	G	3: 37,075,630 (GRCm39)	Y3610C	probably damaging	Het
Cars2	C	T	8: 11,566,198 (GRCm39)	V443I	probably benign	Het
Cblc	A	G	7: 19,526,821 (GRCm39)	L137P	probably damaging	Het
Ccdc198	T	C	14: 49,481,270 (GRCm39)		probably null	Het
Cdk5r1	T	A	11: 80,369,021 (GRCm39)	C229*	probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Cfap54	T	C	10: 92,710,877 (GRCm39)	Y2728C	unknown	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
Cnot11	C	T	1: 39,579,148 (GRCm39)	Q12*	probably null	Het
Commd6	A	T	14: 101,874,534 (GRCm39)	D19E	probably damaging	Het
Crygc	C	T	1: 65,112,361 (GRCm39)	G71D	possibly damaging	Het
Cstf3	A	G	2: 104,486,076 (GRCm39)	K439E	probably benign	Het
Cyp11b2	G	T	15: 74,727,340 (GRCm39)	H114N	probably benign	Het
Cyp2d40	T	C	15: 82,645,687 (GRCm39)	D106G	probably benign	Het
Dhx8	T	A	11: 101,655,618 (GRCm39)	V1117E	probably damaging	Het
Duoxa1	G	T	2: 122,134,462 (GRCm39)	L219I	probably damaging	Het
Dynap	A	T	18: 70,374,253 (GRCm39)	I91N	probably damaging	Het
Elfn1	G	T	5: 139,958,900 (GRCm39)	G635W	probably damaging	Het
Fan1	A	T	7: 64,014,377 (GRCm39)	I618N	probably damaging	Het
Fras1	A	G	5: 96,876,410 (GRCm39)	D2381G	probably damaging	Het
Fxyd6	T	A	9: 45,302,851 (GRCm39)		probably null	Het
Gpr137b	A	T	13: 13,538,094 (GRCm39)	W286R	probably damaging	Het
Gpsm3	A	T	17: 34,809,536 (GRCm39)		probably null	Het
Has1	C	T	17: 18,064,122 (GRCm39)	V506I	probably benign	Het
Hoxd10	T	A	2: 74,522,616 (GRCm39)	V98D	probably benign	Het
Htr2b	T	A	1: 86,027,615 (GRCm39)	D297V	probably benign	Het
Hydin	G	C	8: 111,265,007 (GRCm39)	R2730P	probably benign	Het
I830077J02Rik	T	C	3: 105,833,830 (GRCm39)	N109D	possibly damaging	Het
Igf2r	A	T	17: 12,922,263 (GRCm39)	F1284I	probably damaging	Het
Ildr2	C	G	1: 166,098,144 (GRCm39)	D167E	probably damaging	Het
Ipo9	T	C	1: 135,314,046 (GRCm39)	D949G	probably benign	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Itpr1	A	G	6: 108,365,153 (GRCm39)	N27S	probably damaging	Het
Klra4	C	A	6: 130,042,162 (GRCm39)	R35L	probably benign	Het
Map3k2	T	A	18: 32,359,682 (GRCm39)	C512S	probably benign	Het
Mertk	A	G	2: 128,601,150 (GRCm39)		probably null	Het
Mgat2	T	A	12: 69,232,407 (GRCm39)	I327N	probably damaging	Het
Mogat1	T	C	1: 78,499,496 (GRCm39)	I59T	probably damaging	Het
Mrpl2	A	T	17: 46,958,382 (GRCm39)	M55L	probably benign	Het
Nxpe3	T	C	16: 55,664,685 (GRCm39)	M512V	possibly damaging	Het
Pcdh15	T	C	10: 74,286,052 (GRCm39)	L769P	probably damaging	Het
Pcmtd2	T	G	2: 181,486,231 (GRCm39)	V117G	probably damaging	Het
Pdia2	A	T	17: 26,415,578 (GRCm39)		probably null	Het
Repin1	A	T	6: 48,574,859 (GRCm39)	Q593L	possibly damaging	Het
Rnf213	C	T	11: 119,340,692 (GRCm39)	T3517I	probably benign	Het
Rxfp2	A	T	5: 149,942,210 (GRCm39)		probably benign	Het
Skint8	T	C	4: 111,785,968 (GRCm39)	L138P	probably damaging	Het
Slc35a3	T	A	3: 116,506,417 (GRCm39)	Q5L	probably null	Het
Stab2	T	A	10: 86,778,054 (GRCm39)	N758I	probably damaging	Het
Sulf1	T	A	1: 12,908,658 (GRCm39)	I557N	probably damaging	Het
Tbc1d8	T	C	1: 39,428,455 (GRCm39)	I497V	possibly damaging	Het
Timp3	T	C	10: 86,181,638 (GRCm39)	S170P	possibly damaging	Het
Top1mt	C	T	15: 75,547,973 (GRCm39)	E38K	probably benign	Het
Tpp1	G	A	7: 105,398,171 (GRCm39)	L331F	probably damaging	Het
Trpm7	A	T	2: 126,654,941 (GRCm39)	D1332E	probably benign	Het
Ttc23	A	G	7: 67,319,476 (GRCm39)	E112G	possibly damaging	Het
Ttn	T	C	2: 76,715,296 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,726,934 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,850,969 (GRCm39)	C1796S	probably damaging	Het
Ugt2b34	C	T	5: 87,040,675 (GRCm39)	V416I	probably benign	Het
Uqcrb	A	G	13: 67,048,827 (GRCm39)		probably benign	Het
Vps26b	A	G	9: 26,921,760 (GRCm39)	L255P	probably benign	Het
Wdr59	A	G	8: 112,223,512 (GRCm39)	V154A	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
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
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'- TCGGTGTCATCTTCTGCATG -3'
(R):5'- TGGCAGCCTTTGTGAAGCTC -3'

Sequencing Primer
(F):5'- CTGCATGAAGTATCACAAATTTGAGG -3'
(R):5'- AGATAAGTGCCCCCTTTC -3'

Posted On

2018-10-18