Mutagenetix > Incidental Mutation

Incidental Mutation 'R5269:Antxr1'

400054

Institutional Source

Beutler Lab

Gene Symbol

Antxr1

Ensembl Gene

ENSMUSG00000033420

Gene Name

anthrax toxin receptor 1

Synonyms

2810405N18Rik, Tem8, 2310008J16Rik

MMRRC Submission

042834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87110835-87312757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87157165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 452 (L452P)

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: L452P

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

SMART Domains

Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: L452P

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 damaging
Transcript: ENSMUST00000204805
AA Change: L452P

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

SMART Domains

Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: L452P

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: L452P

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

SMART Domains

Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: L452P

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

Meta Mutation Damage Score

0.7816

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

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
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Adam39	A	G	8: 41,279,018 (GRCm39)	I470V	probably benign	Het
Agrn	A	T	4: 156,253,447 (GRCm39)	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,621,557 (GRCm39)	I42T	probably damaging	Het
Akap6	T	C	12: 53,186,626 (GRCm39)	C1347R	probably damaging	Het
Arhgef33	T	A	17: 80,677,704 (GRCm39)	V417D	probably damaging	Het
Brca2	A	G	5: 150,462,688 (GRCm39)	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,861,882 (GRCm39)	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,557,557 (GRCm39)	V323M	possibly damaging	Het
Cebpa	G	A	7: 34,819,283 (GRCm39)	R147H	probably benign	Het
Cetn4	C	A	3: 37,364,118 (GRCm39)	E31*	probably null	Het
Cobll1	G	A	2: 64,964,115 (GRCm39)	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825 (GRCm39)	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,198,934 (GRCm39)	S124P	probably damaging	Het
Eddm3b	T	A	14: 51,354,178 (GRCm39)	D55E	probably damaging	Het
Elmo1	C	A	13: 20,633,656 (GRCm39)	N439K	probably benign	Het
Fabp12	T	C	3: 10,315,167 (GRCm39)	N60S	probably benign	Het
Fat2	T	A	11: 55,178,704 (GRCm39)	H1452L	probably benign	Het
Flacc1	A	G	1: 58,730,919 (GRCm39)	S46P	possibly damaging	Het
Flrt2	T	C	12: 95,746,712 (GRCm39)	V350A	possibly damaging	Het
Ganab	T	C	19: 8,889,301 (GRCm39)	F626S	probably damaging	Het
Ghr	T	C	15: 3,349,561 (GRCm39)	Y539C	probably benign	Het
Gm6871	T	C	7: 41,197,525 (GRCm39)	T112A	probably damaging	Het
Gm7133	T	A	1: 97,110,848 (GRCm39)		noncoding transcript	Het
Gon4l	A	C	3: 88,802,835 (GRCm39)	I1149L	probably benign	Het
Greb1l	G	A	18: 10,511,409 (GRCm39)	D45N	probably benign	Het
H2-K2	A	G	17: 34,215,989 (GRCm39)		probably benign	Het
Herc2	C	T	7: 55,818,618 (GRCm39)	R2770*	probably null	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itsn2	A	G	12: 4,683,553 (GRCm39)		probably benign	Het
Klb	A	G	5: 65,506,140 (GRCm39)	D129G	probably damaging	Het
Klf1	A	G	8: 85,629,969 (GRCm39)	I265V	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Map3k10	T	C	7: 27,357,957 (GRCm39)	E607G	probably benign	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mroh6	A	G	15: 75,757,639 (GRCm39)	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,337,012 (GRCm39)	C128S	probably damaging	Het
Or51f23	T	C	7: 102,453,327 (GRCm39)	V214A	probably benign	Het
Paqr4	G	T	17: 23,957,187 (GRCm39)	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,881,747 (GRCm39)	I503V	probably benign	Het
Pds5a	T	C	5: 65,821,271 (GRCm39)	N151S	probably damaging	Het
Pif1	A	G	9: 65,499,111 (GRCm39)	T444A	possibly damaging	Het
Ppp2r3d	T	C	9: 101,031,064 (GRCm39)	R851G	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ros1	T	G	10: 51,927,104 (GRCm39)	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,309,984 (GRCm39)	T86A	probably benign	Het
Rpl18a	G	A	8: 71,348,932 (GRCm39)	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 62,108,684 (GRCm39)	K258R	probably benign	Het
Ska3	T	A	14: 58,059,573 (GRCm39)	E84V	possibly damaging	Het
Slc25a40	T	A	5: 8,497,409 (GRCm39)		probably null	Het
Slf1	A	T	13: 77,252,700 (GRCm39)	S274T	probably benign	Het
Spata21	A	T	4: 140,830,332 (GRCm39)	Q267H	probably damaging	Het
Strbp	A	T	2: 37,517,455 (GRCm39)	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,752,326 (GRCm39)	E454G	probably damaging	Het
Tcam1	C	A	11: 106,176,353 (GRCm39)	L360I	probably benign	Het
Tnxb	G	A	17: 34,922,582 (GRCm39)	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,056,797 (GRCm39)	Y1120F	probably benign	Het
Trp53	T	A	11: 69,480,031 (GRCm39)	M243K	probably damaging	Het
Ttl	T	A	2: 128,910,831 (GRCm39)	C72S	probably damaging	Het
Ttn	A	G	2: 76,539,240 (GRCm39)	V34582A	probably benign	Het
Uqcrh	T	C	4: 115,927,101 (GRCm39)	T31A	possibly damaging	Het
Usp40	A	G	1: 87,923,504 (GRCm39)	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,240,839 (GRCm39)	E232G	probably benign	Het
Wdr72	A	T	9: 74,064,653 (GRCm39)	I562F	probably damaging	Het
Wnt4	A	G	4: 137,005,061 (GRCm39)	N24S	probably benign	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
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'- AACTGCTATCTGATCTGTCACCAC -3'
(R):5'- CCCTTGCATTAGAGAGTGGAGAG -3'

Sequencing Primer
(F):5'- CCACAGGAAATAACATCTAGAGTTG -3'
(R):5'- GAGAGGCCCTAATCCACGTTC -3'

Posted On

2016-07-06