Mutagenetix > Incidental Mutation

Incidental Mutation 'R5610:Antxr1'

440294

Institutional Source

Beutler Lab

Gene Symbol

Antxr1

Ensembl Gene

ENSMUSG00000033420

Gene Name

anthrax toxin receptor 1

Synonyms

2810405N18Rik, Tem8, 2310008J16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87110835-87312757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87232845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 239 (V239A)

Ref Sequence

ENSEMBL: ENSMUSP00000144911 (fasta)

Gene Model

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

AlphaFold

Q9CZ52

Predicted Effect

probably damaging
Transcript: ENSMUST00000042025
AA Change: V239A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: V239A

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

noncoding transcript
Transcript: ENSMUST00000203298

Predicted Effect

probably damaging
Transcript: ENSMUST00000204805
AA Change: V239A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: V239A

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 damaging
Transcript: ENSMUST00000205033
AA Change: V239A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: V239A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,982,156 (GRCm39)	D247G	possibly damaging	Het
1700123K08Rik	A	G	5: 138,562,403 (GRCm39)		probably null	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Accsl	C	A	2: 93,692,118 (GRCm39)		probably null	Het
Adad2	C	T	8: 120,341,500 (GRCm39)	R171C	probably benign	Het
Adgrv1	A	C	13: 81,669,236 (GRCm39)	L2440R	probably damaging	Het
Aoc1l2	G	A	6: 48,907,953 (GRCm39)	V318I	probably benign	Het
Arhgap28	G	A	17: 68,203,235 (GRCm39)	Q73*	probably null	Het
Arrdc5	C	T	17: 56,604,846 (GRCm39)	R147H	probably benign	Het
Ash1l	T	C	3: 88,930,492 (GRCm39)	Y1990H	probably damaging	Het
Bank1	T	C	3: 135,772,148 (GRCm39)	E494G	probably damaging	Het
Bicral	A	T	17: 47,119,418 (GRCm39)	I701N	probably damaging	Het
Bod1l	T	C	5: 41,979,217 (GRCm39)	Y699C	probably damaging	Het
C3ar1	T	G	6: 122,827,537 (GRCm39)	T227P	probably benign	Het
Ccr3	C	A	9: 123,829,518 (GRCm39)	D284E	probably damaging	Het
Cdh13	T	C	8: 119,578,462 (GRCm39)	V163A	possibly damaging	Het
CK137956	C	T	4: 127,840,440 (GRCm39)		probably null	Het
Cltc	T	C	11: 86,612,472 (GRCm39)	S529G	probably benign	Het
Cplane2	C	T	4: 140,947,177 (GRCm39)	P186L	probably benign	Het
Ddx11	A	G	17: 66,457,021 (GRCm39)	K783E	probably damaging	Het
Dnah3	T	A	7: 119,538,288 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,486,005 (GRCm39)	H408R	probably benign	Het
Esr1	A	G	10: 4,951,221 (GRCm39)	K533R	probably damaging	Het
Fat1	T	A	8: 45,406,109 (GRCm39)	Y953*	probably null	Het
Fosl1	T	A	19: 5,505,133 (GRCm39)		probably null	Het
Frmd4b	A	G	6: 97,283,752 (GRCm39)	M373T	probably benign	Het
Gm1968	A	G	16: 29,777,557 (GRCm39)		noncoding transcript	Het
Gpr26	T	C	7: 131,568,694 (GRCm39)	V13A	possibly damaging	Het
Gtf3c1	T	C	7: 125,303,117 (GRCm39)	N106S	possibly damaging	Het
Itgb8	T	G	12: 119,134,429 (GRCm39)	E546A	probably damaging	Het
Itpr3	C	T	17: 27,337,540 (GRCm39)	T2450M	probably benign	Het
Kif1a	A	T	1: 92,953,450 (GRCm39)	Y1245N	probably damaging	Het
Klrb1f	G	A	6: 129,031,335 (GRCm39)		probably null	Het
Lars1	A	G	18: 42,390,156 (GRCm39)	L37P	probably benign	Het
Lnpk	T	C	2: 74,378,369 (GRCm39)	T131A	probably benign	Het
Mob3c	C	T	4: 115,690,878 (GRCm39)	T156I	probably benign	Het
Nadk	T	A	4: 155,668,628 (GRCm39)	W100R	probably damaging	Het
Npy6r	A	T	18: 44,409,061 (GRCm39)	I161F	probably benign	Het
Or4c107	A	C	2: 88,789,170 (GRCm39)	D120A	probably damaging	Het
Or6c204	G	A	10: 129,022,426 (GRCm39)	T288I	probably damaging	Het
Pcdhga3	A	G	18: 37,808,276 (GRCm39)	E243G	possibly damaging	Het
Pdss2	A	G	10: 43,315,828 (GRCm39)	T361A	probably benign	Het
Pkd1l2	G	T	8: 117,769,059 (GRCm39)	Q1198K	probably benign	Het
Prdx1	T	A	4: 116,550,124 (GRCm39)	I102N	probably damaging	Het
Prss1	G	A	6: 41,438,147 (GRCm39)	V25I	probably benign	Het
Pspc1	A	G	14: 57,015,388 (GRCm39)	Y77H	probably damaging	Het
Rnf5	T	C	17: 34,820,712 (GRCm39)		probably benign	Het
Ryr1	C	A	7: 28,811,399 (GRCm39)	M235I	probably benign	Het
Sec24c	A	G	14: 20,741,893 (GRCm39)	Y776C	probably damaging	Het
Sharpin	A	G	15: 76,234,253 (GRCm39)		probably null	Het
Slc12a4	C	A	8: 106,676,845 (GRCm39)	V482L	possibly damaging	Het
Slc38a1	C	T	15: 96,514,022 (GRCm39)		probably null	Het
Smtn	G	T	11: 3,479,582 (GRCm39)	T495N	probably damaging	Het
Sncaip	A	G	18: 53,001,991 (GRCm39)	T171A	probably benign	Het
Sprr2e	T	C	3: 92,260,399 (GRCm39)	*77R	probably null	Het
Syngap1	T	A	17: 27,178,754 (GRCm39)	D443E	possibly damaging	Het
Taldo1	T	C	7: 140,972,205 (GRCm39)	V24A	probably damaging	Het
Tfap2c	T	A	2: 172,391,778 (GRCm39)	N8K	probably benign	Het
Tmem229a	T	C	6: 24,955,580 (GRCm39)	Y58C	probably damaging	Het
Tubgcp3	T	C	8: 12,689,577 (GRCm39)	Y563C	probably damaging	Het
Ubr1	T	A	2: 120,722,593 (GRCm39)	D1342V	probably benign	Het
Usp7	C	T	16: 8,534,374 (GRCm39)		probably null	Het
Wbp1	C	T	6: 83,097,216 (GRCm39)	G75D	probably damaging	Het
Zfp180	G	T	7: 23,804,315 (GRCm39)	V245F	probably benign	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp646	T	A	7: 127,478,530 (GRCm39)	C236S	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
R0482:Antxr1	UTSW	6	87,246,220 (GRCm39)	splice site	probably null
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
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'- AGCACTGAACAGGTCTCTGAAG -3'
(R):5'- CAGTGAGTAGAAGAAACCTCCGTG -3'

Sequencing Primer
(F):5'- TCTCTGAAGGCCCCTGTAAGAG -3'
(R):5'- GTAGAAGAAACCTCCGTGTCCCTC -3'

Posted On

2016-11-08