Mutagenetix > Incidental Mutation

Incidental Mutation 'R6744:Havcr2'

532796

Institutional Source

Beutler Lab

Gene Symbol

Havcr2

Ensembl Gene

ENSMUSG00000020399

Gene Name

hepatitis A virus cellular receptor 2

Synonyms

TIM-3, Tim3, Timd3

MMRRC Submission

044861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46345762-46372082 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 46345887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020668] [ENSMUST00000109229]

AlphaFold

Q8VIM0

Predicted Effect

probably null
Transcript: ENSMUST00000020668

SMART Domains

Protein: ENSMUSP00000020668
Gene: ENSMUSG00000020399

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	23	131	9.8e-6	SMART
transmembrane domain	193	215	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109229

SMART Domains

Protein: ENSMUSP00000104852
Gene: ENSMUSG00000020399

Domain	Start	End	E-Value	Type
Pfam:V-set	12	80	8.6e-9	PFAM
transmembrane domain	144	166	N/A	INTRINSIC
low complexity region	210	228	N/A	INTRINSIC

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal thymic development and show no evidence of autoimmunity or lymphoproliferation. Mice homozygous for a different targeted allele exhibit improved survival following influenza infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	A	10: 20,841,466 (GRCm39)	L251H	probably damaging	Het
Alk	A	T	17: 72,910,077 (GRCm39)	S210T	probably benign	Het
Arap2	A	G	5: 62,906,281 (GRCm39)	F246S	probably damaging	Het
Atad5	T	A	11: 80,024,858 (GRCm39)	N1749K	probably benign	Het
C87436	T	A	6: 86,423,046 (GRCm39)	S207T	probably damaging	Het
C8b	C	T	4: 104,631,543 (GRCm39)	R53W	probably damaging	Het
Catsperg2	A	G	7: 29,409,244 (GRCm39)	V619A	probably benign	Het
Cdc73	G	A	1: 143,577,887 (GRCm39)		probably benign	Het
Cdh4	C	A	2: 179,489,180 (GRCm39)	H297Q	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,816,207 (GRCm39)	N1328S	probably damaging	Het
Ctnnb1	T	A	9: 120,782,025 (GRCm39)	V346E	probably damaging	Het
Ctns	C	T	11: 73,076,111 (GRCm39)	G308E	probably damaging	Het
Cxxc4	AGGCGGCGGCGGCGGCGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGC	3: 133,945,891 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,014,532 (GRCm39)	I3685T	probably damaging	Het
Dock6	T	C	9: 21,742,770 (GRCm39)	H775R	probably damaging	Het
Eef1ece2	A	T	16: 20,449,116 (GRCm39)	K165N	probably damaging	Het
Fbxl3	A	T	14: 103,320,730 (GRCm39)	V239D	probably damaging	Het
Gh	T	A	11: 106,192,230 (GRCm39)	K55*	probably null	Het
Kcnq2	T	A	2: 180,727,099 (GRCm39)	H576L	possibly damaging	Het
Kifap3	A	G	1: 163,676,239 (GRCm39)	N398S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mblac1	A	G	5: 138,192,682 (GRCm39)	E8G	possibly damaging	Het
Mtor	C	T	4: 148,543,112 (GRCm39)	T290I	probably benign	Het
Nceh1	T	C	3: 27,295,938 (GRCm39)	Y400H	probably damaging	Het
Nek9	A	G	12: 85,376,703 (GRCm39)	V226A	probably benign	Het
Or10a3	T	C	7: 108,480,037 (GRCm39)	T259A	probably damaging	Het
Or10al3	T	A	17: 38,012,336 (GRCm39)	Y258*	probably null	Het
Or2d4	A	G	7: 106,543,741 (GRCm39)	S156P	probably damaging	Het
Otud4	C	A	8: 80,400,407 (GRCm39)	Y1039*	probably null	Het
Pax4	T	C	6: 28,442,396 (GRCm39)	H331R	probably benign	Het
Piezo2	A	T	18: 63,165,960 (GRCm39)	Y2090*	probably null	Het
Ppp1r12a	T	A	10: 108,066,395 (GRCm39)	H195Q	probably damaging	Het
Ppp6r2	A	G	15: 89,140,864 (GRCm39)		probably null	Het
Prodh	A	G	16: 17,897,064 (GRCm39)	V23A	probably benign	Het
Psg20	G	A	7: 18,408,505 (GRCm39)	T405I	probably damaging	Het
Ptprf	T	C	4: 118,093,562 (GRCm39)	D360G	probably benign	Het
Qrfprl	T	A	6: 65,418,324 (GRCm39)	M164K	possibly damaging	Het
Rad18	A	T	6: 112,652,745 (GRCm39)	M284K	probably damaging	Het
Rgs17	T	C	10: 5,792,567 (GRCm39)	K60E	possibly damaging	Het
Sec31a	G	T	5: 100,540,358 (GRCm39)	Q39K	possibly damaging	Het
Slc22a22	G	T	15: 57,117,668 (GRCm39)	T291K	possibly damaging	Het
Sult2a6	C	T	7: 13,956,470 (GRCm39)	E264K	probably damaging	Het
Syne2	C	T	12: 76,121,221 (GRCm39)	R5896C	probably damaging	Het
Tctn1	A	T	5: 122,402,209 (GRCm39)	V75D	probably damaging	Het
Tmem214	A	G	5: 31,031,372 (GRCm39)	K409E	probably damaging	Het
Vcan	T	C	13: 89,853,301 (GRCm39)	Y553C	probably damaging	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het

Other mutations in Havcr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Havcr2	APN	11	46,360,373 (GRCm39)	missense	probably damaging	0.99
IGL01122:Havcr2	APN	11	46,347,254 (GRCm39)	missense	probably damaging	1.00
IGL01383:Havcr2	APN	11	46,360,375 (GRCm39)	missense	probably damaging	1.00
IGL02303:Havcr2	APN	11	46,370,108 (GRCm39)	splice site	probably benign
IGL02665:Havcr2	APN	11	46,370,221 (GRCm39)	missense	probably benign	0.03
R1688:Havcr2	UTSW	11	46,370,191 (GRCm39)	missense	probably damaging	1.00
R1782:Havcr2	UTSW	11	46,345,844 (GRCm39)	missense	unknown
R1945:Havcr2	UTSW	11	46,345,877 (GRCm39)	missense	unknown
R4429:Havcr2	UTSW	11	46,347,387 (GRCm39)	missense	probably damaging	1.00
R5846:Havcr2	UTSW	11	46,360,343 (GRCm39)	missense	probably benign	0.09
R5893:Havcr2	UTSW	11	46,347,143 (GRCm39)	missense	probably damaging	1.00
R6915:Havcr2	UTSW	11	46,366,738 (GRCm39)	missense	probably benign	0.01
R7262:Havcr2	UTSW	11	46,360,388 (GRCm39)	missense	probably benign	0.14
R7560:Havcr2	UTSW	11	46,349,889 (GRCm39)	missense	probably damaging	0.99
R7739:Havcr2	UTSW	11	46,347,384 (GRCm39)	missense	probably damaging	1.00
R8032:Havcr2	UTSW	11	46,370,118 (GRCm39)	missense	probably damaging	1.00
R8151:Havcr2	UTSW	11	46,366,722 (GRCm39)	missense	possibly damaging	0.77
R9124:Havcr2	UTSW	11	46,360,388 (GRCm39)	missense	probably benign	0.14
R9420:Havcr2	UTSW	11	46,347,350 (GRCm39)	missense	probably damaging	1.00
R9560:Havcr2	UTSW	11	46,347,164 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGGTAATCACTGGAGGTCAGAC -3'
(R):5'- GGCTCTTCAATTAAGCTCACTGC -3'

Sequencing Primer
(F):5'- TCAGACATCCTGGGGAGCAG -3'
(R):5'- GCTCACTGCTTGTGTTACTG -3'

Posted On

2018-08-29