Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Antxr1'

42027

Institutional Source

Beutler Lab

Gene Symbol

Antxr1

Ensembl Gene

ENSMUSG00000033420

Gene Name

anthrax toxin receptor 1

Synonyms

2810405N18Rik, Tem8, 2310008J16Rik

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0482 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

87110835-87312757 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 87246220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000204805] [ENSMUST00000205033] [ENSMUST00000205033]

AlphaFold

Q9CZ52

Predicted Effect

probably null
Transcript: ENSMUST00000042025

SMART Domains

Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	486	5.9e-51	PFAM
low complexity region	501	561	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203131

Predicted Effect

probably null
Transcript: ENSMUST00000204805

SMART Domains

Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	482	8.5e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000204805

SMART Domains

Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	482	8.5e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000205033

SMART Domains

Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	5.2e-20	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	485	3.9e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000205033

SMART Domains

Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	5.2e-20	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	485	3.9e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205089

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation display female infertility and malocclusion of the incisors. Mice homozygous for a different knock-out allele exhibit malocclusion of incisors and increased extracellular matrix deposition in several organs, includingthe ovaries and uterus, but normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,207,255 (GRCm39)		probably null	Het
Abca13	G	A	11: 9,278,207 (GRCm39)	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534 (GRCm39)	I6M	probably benign	Het
Adcy4	T	A	14: 56,012,029 (GRCm39)		probably null	Het
Agrn	A	G	4: 156,258,012 (GRCm39)	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,195,057 (GRCm39)	N545S	probably benign	Het
Arhgef17	T	C	7: 100,529,828 (GRCm39)	K476E	probably damaging	Het
Bptf	T	C	11: 106,972,088 (GRCm39)	S927G	probably benign	Het
Cacna1s	C	T	1: 136,041,132 (GRCm39)	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,872,247 (GRCm39)	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,328,506 (GRCm39)		probably benign	Het
Celsr3	T	A	9: 108,706,272 (GRCm39)	Y918*	probably null	Het
Cep250	T	C	2: 155,806,894 (GRCm39)		probably benign	Het
Ces2h	A	G	8: 105,746,903 (GRCm39)	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,640,327 (GRCm39)	T53A	probably benign	Het
Cntnap2	C	T	6: 45,692,750 (GRCm39)	S77L	probably benign	Het
Cped1	A	T	6: 22,016,957 (GRCm39)	H102L	probably benign	Het
Crim1	T	A	17: 78,680,008 (GRCm39)	D916E	probably benign	Het
Csmd1	T	A	8: 16,283,115 (GRCm39)	I614F	probably damaging	Het
Csnk1g1	G	A	9: 65,917,751 (GRCm39)	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,713,110 (GRCm39)		probably null	Het
Cuzd1	A	T	7: 130,911,601 (GRCm39)		probably benign	Het
Cyp4f16	T	A	17: 32,769,525 (GRCm39)	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144 (GRCm39)	L75P	probably damaging	Het
Ddias	G	A	7: 92,508,736 (GRCm39)	A393V	probably benign	Het
Dgka	A	T	10: 128,569,990 (GRCm39)	Y123*	probably null	Het
Dlgap1	T	C	17: 70,823,185 (GRCm39)	C57R	probably benign	Het
Dysf	T	A	6: 84,129,387 (GRCm39)	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,292,828 (GRCm39)	Y1230N	probably damaging	Het
Fbxl7	A	T	15: 26,543,632 (GRCm39)	S338R	probably benign	Het
Fgf23	A	T	6: 127,050,122 (GRCm39)	T44S	probably damaging	Het
Fhip1b	G	A	7: 105,033,419 (GRCm39)	P599L	possibly damaging	Het
Folh1	A	T	7: 86,395,309 (GRCm39)		probably benign	Het
Gpsm2	A	T	3: 108,609,710 (GRCm39)		probably benign	Het
H2bc13	A	G	13: 21,900,295 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,865,130 (GRCm39)		probably benign	Het
Il31ra	G	T	13: 112,664,015 (GRCm39)	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,369 (GRCm39)	L199H	probably benign	Het
Kif18a	T	A	2: 109,118,188 (GRCm39)	M1K	probably null	Het
Kif4-ps	A	C	12: 101,114,921 (GRCm39)	I1017L	probably benign	Het
Klhl2	C	T	8: 65,211,164 (GRCm39)	V295M	probably benign	Het
Krt75	A	T	15: 101,478,746 (GRCm39)	M296K	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lgr4	T	C	2: 109,838,437 (GRCm39)	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,311,118 (GRCm39)	N129K	probably damaging	Het
Lnx2	A	G	5: 146,955,771 (GRCm39)	V675A	probably damaging	Het
Med13	T	C	11: 86,175,977 (GRCm39)	T1673A	probably benign	Het
Mif	A	G	10: 75,695,974 (GRCm39)	V10A	possibly damaging	Het
Mki67	A	T	7: 135,301,158 (GRCm39)	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,558,059 (GRCm39)	N89K	probably benign	Het
Myo19	G	T	11: 84,800,245 (GRCm39)	D877Y	probably benign	Het
Nckap5	A	G	1: 125,954,102 (GRCm39)	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,783,056 (GRCm39)	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,490,269 (GRCm39)	Y233H	probably damaging	Het
Nsl1	T	A	1: 190,795,237 (GRCm39)	M1K	probably null	Het
Ntsr1	T	A	2: 180,142,849 (GRCm39)	S213R	possibly damaging	Het
Or4c120	A	T	2: 89,000,975 (GRCm39)	F194I	probably benign	Het
Or4c58	A	G	2: 89,674,513 (GRCm39)	V268A	probably benign	Het
Or52n5	T	A	7: 104,588,021 (GRCm39)	F96Y	possibly damaging	Het
Pde4d	G	A	13: 110,073,244 (GRCm39)	V347I	probably benign	Het
Pik3r4	T	A	9: 105,546,244 (GRCm39)	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,472,160 (GRCm39)	R136G	probably benign	Het
Proser2	A	C	2: 6,118,721 (GRCm39)	S41A	probably damaging	Het
Proz	A	T	8: 13,123,460 (GRCm39)	K244*	probably null	Het
Prpf38b	A	T	3: 108,812,586 (GRCm39)	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,112,254 (GRCm39)	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,310,547 (GRCm39)	D315A	probably damaging	Het
Rnf141	G	A	7: 110,436,345 (GRCm39)	R28*	probably null	Het
Rps6kc1	A	T	1: 190,531,627 (GRCm39)	S792T	probably benign	Het
Rxrg	A	G	1: 167,458,606 (GRCm39)	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,448,321 (GRCm39)	N114S	probably benign	Het
Slc25a38	T	C	9: 119,949,899 (GRCm39)	V205A	probably benign	Het
Slc4a10	T	C	2: 62,127,361 (GRCm39)		probably benign	Het
Spred1	T	A	2: 116,983,459 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,077,635 (GRCm39)	S706P	probably benign	Het
Tcerg1	C	A	18: 42,697,305 (GRCm39)		probably benign	Het
Tent5a	T	C	9: 85,207,108 (GRCm39)	Y230C	probably damaging	Het
Thsd4	A	T	9: 59,910,261 (GRCm39)	I109N	probably damaging	Het
Ticrr	C	A	7: 79,344,236 (GRCm39)	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,130,255 (GRCm39)	D146G	probably damaging	Het
Tubd1	T	G	11: 86,448,602 (GRCm39)	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,005,855 (GRCm39)	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vcan	T	A	13: 89,826,264 (GRCm39)	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,402,216 (GRCm39)	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,368,204 (GRCm39)	A231T	probably damaging	Het
Vmn2r97	A	G	17: 19,167,930 (GRCm39)	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,710,539 (GRCm39)	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,733,436 (GRCm39)	V252D	probably damaging	Het

Other mutations in Antxr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Antxr1	APN	6	87,265,784 (GRCm39)	missense	probably damaging	1.00
IGL02391:Antxr1	APN	6	87,264,038 (GRCm39)	missense	probably damaging	1.00
IGL02944:Antxr1	APN	6	87,165,141 (GRCm39)	missense	possibly damaging	0.93
IGL03278:Antxr1	APN	6	87,181,439 (GRCm39)	splice site	probably benign
slinky	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
slipnslide	UTSW	6	87,261,291 (GRCm39)	missense	probably damaging	1.00
Stubby	UTSW	6	87,194,255 (GRCm39)	critical splice donor site	probably null
E0374:Antxr1	UTSW	6	87,232,861 (GRCm39)	missense	probably benign	0.03
R0333:Antxr1	UTSW	6	87,165,820 (GRCm39)	splice site	probably benign
R0456:Antxr1	UTSW	6	87,194,257 (GRCm39)	missense	probably damaging	1.00
R4612:Antxr1	UTSW	6	87,265,155 (GRCm39)	missense	probably damaging	1.00
R5269:Antxr1	UTSW	6	87,157,165 (GRCm39)	missense	probably damaging	1.00
R5610:Antxr1	UTSW	6	87,232,845 (GRCm39)	missense	probably damaging	1.00
R5671:Antxr1	UTSW	6	87,194,255 (GRCm39)	critical splice donor site	probably null
R5893:Antxr1	UTSW	6	87,114,241 (GRCm39)	missense	probably benign	0.00
R5925:Antxr1	UTSW	6	87,289,344 (GRCm39)	missense	probably damaging	1.00
R6038:Antxr1	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
R6038:Antxr1	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
R6658:Antxr1	UTSW	6	87,261,291 (GRCm39)	missense	probably damaging	1.00
R7634:Antxr1	UTSW	6	87,114,273 (GRCm39)	missense	probably benign	0.20
R8103:Antxr1	UTSW	6	87,165,198 (GRCm39)	missense	probably damaging	1.00
R8506:Antxr1	UTSW	6	87,165,155 (GRCm39)	missense	possibly damaging	0.77
R8756:Antxr1	UTSW	6	87,165,235 (GRCm39)	missense	probably damaging	1.00
R9183:Antxr1	UTSW	6	87,264,025 (GRCm39)	missense	probably damaging	1.00
R9296:Antxr1	UTSW	6	87,114,409 (GRCm39)	intron	probably benign
R9688:Antxr1	UTSW	6	87,114,334 (GRCm39)	missense	probably damaging	1.00
R9756:Antxr1	UTSW	6	87,217,936 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGCACTGAATGGGAATCCAGCAC -3'
(R):5'- GCCTGGCTAATTTGTGGCATTGAC -3'

Sequencing Primer
(F):5'- ATGGGAATCCAGCACTTCTATGC -3'
(R):5'- CATTGACGATGATGTGTTAGCCAC -3'

Posted On

2013-05-23