Mutagenetix > Incidental Mutation

Incidental Mutation 'R2969:Antxr2'

256055

Institutional Source

Beutler Lab

Gene Symbol

Antxr2

Ensembl Gene

ENSMUSG00000029338

Gene Name

anthrax toxin receptor 2

Synonyms

2310046B19Rik, CMG-2, cI-35, CMG2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R2969 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

98032547-98178876 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98178275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 45 (L45*)

Ref Sequence

ENSEMBL: ENSMUSP00000142605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031281] [ENSMUST00000199088]

AlphaFold

Q6DFX2

Predicted Effect

probably null
Transcript: ENSMUST00000031281
AA Change: L45*

SMART Domains

Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: L45*

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
VWA	42	214	2.86e-18	SMART
Pfam:Anth_Ig	215	317	4e-38	PFAM
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	352	369	N/A	INTRINSIC
Pfam:Ant_C	394	485	7.4e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195915

Predicted Effect

probably null
Transcript: ENSMUST00000199088
AA Change: L45*

SMART Domains

Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: L45*

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
VWA	42	214	1.7e-20	SMART
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	352	369	N/A	INTRINSIC
Pfam:Ant_C	394	483	1.6e-41	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for null mutations display female infertility. Mice homozygous for one allele are highly resistant to Bacillus anthracis or anthrax toxin induced lethality. Young mice homozygous for a second allele display pregnancy-related premature death and failure of parturition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,830,225 (GRCm39)	T137A	probably damaging	Het
Armc1	T	C	3: 19,189,024 (GRCm39)	S214G	probably benign	Het
Arsj	T	C	3: 126,233,021 (GRCm39)	I589T	probably benign	Het
C8a	A	G	4: 104,710,974 (GRCm39)	S230P	probably damaging	Het
Cnga3	A	G	1: 37,300,159 (GRCm39)	Y331C	probably damaging	Het
Gm21976	A	G	13: 98,423,790 (GRCm39)	Y33C	unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gtf2i	A	G	5: 134,280,746 (GRCm39)	V556A	probably damaging	Het
Ighv8-12	C	T	12: 115,611,570 (GRCm39)	R118Q	probably benign	Het
Ing4	A	G	6: 125,024,288 (GRCm39)	K131E	probably benign	Het
Mrgprb5	T	A	7: 47,818,317 (GRCm39)	R139S	probably damaging	Het
Nap1l2	A	T	X: 102,229,254 (GRCm39)	D221E	probably benign	Het
Nepn	A	T	10: 52,276,983 (GRCm39)	R179*	probably null	Het
Nrxn3	G	A	12: 89,321,241 (GRCm39)	C383Y	probably damaging	Het
Pfpl	G	T	19: 12,406,907 (GRCm39)	R386L	probably benign	Het
Rere	A	G	4: 150,654,673 (GRCm39)	K402E	unknown	Het
Serpina3n	C	T	12: 104,375,333 (GRCm39)	T135M	probably benign	Het
Slc43a1	C	T	2: 84,687,679 (GRCm39)	T395I	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn1r128	T	A	7: 21,084,046 (GRCm39)	V250D	probably damaging	Het

Other mutations in Antxr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Antxr2	APN	5	98,034,466 (GRCm39)	splice site	probably benign
IGL00661:Antxr2	APN	5	98,152,155 (GRCm39)	missense	probably benign	0.26
IGL01105:Antxr2	APN	5	98,152,802 (GRCm39)	splice site	probably benign
IGL01472:Antxr2	APN	5	98,175,358 (GRCm39)	missense	probably benign	0.00
IGL01719:Antxr2	APN	5	98,096,132 (GRCm39)	missense	possibly damaging	0.82
IGL02184:Antxr2	APN	5	98,125,454 (GRCm39)	splice site	probably null
IGL02199:Antxr2	APN	5	98,125,454 (GRCm39)	splice site	probably null
IGL02250:Antxr2	APN	5	98,125,454 (GRCm39)	splice site	probably null
IGL02251:Antxr2	APN	5	98,125,454 (GRCm39)	splice site	probably null
IGL02368:Antxr2	APN	5	98,097,057 (GRCm39)	missense	probably damaging	1.00
IGL02447:Antxr2	APN	5	98,178,267 (GRCm39)	missense	possibly damaging	0.61
IGL02740:Antxr2	APN	5	98,178,251 (GRCm39)	splice site	probably benign
IGL02850:Antxr2	APN	5	98,151,937 (GRCm39)	missense	probably damaging	1.00
IGL02867:Antxr2	APN	5	98,125,509 (GRCm39)	missense	probably benign	0.00
IGL02889:Antxr2	APN	5	98,125,509 (GRCm39)	missense	probably benign	0.00
G1Funyon:Antxr2	UTSW	5	98,125,538 (GRCm39)	missense	probably benign	0.20
R0013:Antxr2	UTSW	5	98,127,844 (GRCm39)	missense	probably damaging	0.98
R0040:Antxr2	UTSW	5	98,086,284 (GRCm39)	missense	possibly damaging	0.74
R0040:Antxr2	UTSW	5	98,086,284 (GRCm39)	missense	possibly damaging	0.74
R0069:Antxr2	UTSW	5	98,096,109 (GRCm39)	missense	possibly damaging	0.95
R0184:Antxr2	UTSW	5	98,127,889 (GRCm39)	missense	probably damaging	1.00
R0367:Antxr2	UTSW	5	98,177,455 (GRCm39)	missense	probably benign	0.01
R0638:Antxr2	UTSW	5	98,108,496 (GRCm39)	nonsense	probably null
R0732:Antxr2	UTSW	5	98,108,567 (GRCm39)	splice site	probably null
R1255:Antxr2	UTSW	5	98,123,231 (GRCm39)	missense	probably benign	0.39
R1471:Antxr2	UTSW	5	98,123,199 (GRCm39)	missense	possibly damaging	0.88
R1520:Antxr2	UTSW	5	98,108,551 (GRCm39)	missense	probably benign	0.38
R1660:Antxr2	UTSW	5	98,123,209 (GRCm39)	nonsense	probably null
R1870:Antxr2	UTSW	5	98,178,297 (GRCm39)	missense	probably damaging	1.00
R3547:Antxr2	UTSW	5	98,125,516 (GRCm39)	missense	probably benign	0.09
R4237:Antxr2	UTSW	5	98,086,266 (GRCm39)	missense	probably damaging	1.00
R4660:Antxr2	UTSW	5	98,151,913 (GRCm39)	critical splice donor site	probably null
R4702:Antxr2	UTSW	5	98,097,028 (GRCm39)	critical splice donor site	probably null
R4893:Antxr2	UTSW	5	98,151,931 (GRCm39)	missense	probably damaging	1.00
R4997:Antxr2	UTSW	5	98,125,553 (GRCm39)	missense	probably benign	0.04
R5388:Antxr2	UTSW	5	98,125,458 (GRCm39)	critical splice donor site	probably null
R5604:Antxr2	UTSW	5	98,096,169 (GRCm39)	missense	probably damaging	0.98
R6093:Antxr2	UTSW	5	98,178,319 (GRCm39)	missense	probably damaging	0.99
R6118:Antxr2	UTSW	5	98,097,060 (GRCm39)	missense	probably damaging	1.00
R6130:Antxr2	UTSW	5	98,152,131 (GRCm39)	missense	possibly damaging	0.89
R6139:Antxr2	UTSW	5	98,125,565 (GRCm39)	splice site	probably null
R6992:Antxr2	UTSW	5	98,108,564 (GRCm39)	missense	probably benign	0.09
R8127:Antxr2	UTSW	5	98,127,876 (GRCm39)	nonsense	probably null
R8267:Antxr2	UTSW	5	98,113,621 (GRCm39)	critical splice acceptor site	probably null
R8301:Antxr2	UTSW	5	98,125,538 (GRCm39)	missense	probably benign	0.20
R8324:Antxr2	UTSW	5	98,086,368 (GRCm39)	missense	probably damaging	1.00
R8840:Antxr2	UTSW	5	98,152,769 (GRCm39)	missense	probably damaging	1.00
R9125:Antxr2	UTSW	5	98,151,973 (GRCm39)	missense	probably damaging	1.00
R9340:Antxr2	UTSW	5	98,086,306 (GRCm39)	missense	probably damaging	0.98
R9722:Antxr2	UTSW	5	98,096,186 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GCCCCTATTCCTGTACAGCTAATG -3'
(R):5'- TTCACGTCTCTGCTCTGTGAAG -3'

Sequencing Primer
(F):5'- GCTAATGAGCTTGCCTTTGAAAG -3'
(R):5'- AGCCCAAGGGACTGTGAGC -3'

Posted On

2014-12-29