Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Antxr2'

23942

Institutional Source

Beutler Lab

Gene Symbol

Antxr2

Ensembl Gene

ENSMUSG00000029338

Gene Name

anthrax toxin receptor 2

Synonyms

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

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0184 (G1)

Quality Score

210

Status

Validated (trace)

Chromosome

Chromosomal Location

97882783-98031043 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97980030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 214 (L214S)

Ref Sequence

ENSEMBL: ENSMUSP00000142605 (fasta)

Gene Model

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

AlphaFold

Q6DFX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000031281
AA Change: L214S

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

SMART Domains

Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: L214S

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

probably damaging
Transcript: ENSMUST00000199088
AA Change: L214S

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

SMART Domains

Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: L214S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202736

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,419,250 (GRCm38)	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373 (GRCm38)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056 (GRCm38)	E36G	probably damaging	Het
Arhgap26	T	A	18: 38,617,673 (GRCm38)	D46E	unknown	Het
Armc9	T	C	1: 86,198,370 (GRCm38)	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215 (GRCm38)	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841 (GRCm38)	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554 (GRCm38)	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538 (GRCm38)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395 (GRCm38)	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012 (GRCm38)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007 (GRCm38)	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791 (GRCm38)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683 (GRCm38)	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375 (GRCm38)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216 (GRCm38)	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288 (GRCm38)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673 (GRCm38)	N443I	probably benign	Het
Git2	G	A	5: 114,739,037 (GRCm38)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258 (GRCm38)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614 (GRCm38)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969 (GRCm38)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931 (GRCm38)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771 (GRCm38)		probably null	Het
Iars	T	G	13: 49,722,212 (GRCm38)	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193 (GRCm38)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606 (GRCm38)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305 (GRCm38)		probably benign	Het
Ints13	A	T	6: 146,555,044 (GRCm38)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm38)	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231 (GRCm38)	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058 (GRCm38)	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749 (GRCm38)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884 (GRCm38)	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442 (GRCm38)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971 (GRCm38)	R604L	probably benign	Het
Olfr1170	A	T	2: 88,224,780 (GRCm38)	L84*	probably null	Het
Olfr656	T	C	7: 104,618,240 (GRCm38)	V187A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,390 (GRCm38)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128 (GRCm38)	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367 (GRCm38)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220 (GRCm38)	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127 (GRCm38)	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715 (GRCm38)	V231M	probably benign	Het
Poli	A	G	18: 70,522,731 (GRCm38)	S248P	probably damaging	Het
Ppox	C	T	1: 171,279,552 (GRCm38)	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976 (GRCm38)	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566 (GRCm38)		probably null	Het
Rln1	T	A	19: 29,331,936 (GRCm38)	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521 (GRCm38)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093 (GRCm38)	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672 (GRCm38)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189 (GRCm38)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249 (GRCm38)	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198 (GRCm38)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574 (GRCm38)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562 (GRCm38)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300 (GRCm38)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964 (GRCm38)	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194 (GRCm38)	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640 (GRCm38)	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417 (GRCm38)	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067 (GRCm38)		probably null	Het
Ubr4	A	C	4: 139,445,262 (GRCm38)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581 (GRCm38)	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618 (GRCm38)	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207 (GRCm38)	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338 (GRCm38)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877 (GRCm38)	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046 (GRCm38)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685 (GRCm38)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513 (GRCm38)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm38)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm38)	I253T	probably damaging	Het

Other mutations in Antxr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Antxr2	APN	5	97,886,607 (GRCm38)	splice site	probably benign
IGL00661:Antxr2	APN	5	98,004,296 (GRCm38)	missense	probably benign	0.26
IGL01105:Antxr2	APN	5	98,004,943 (GRCm38)	splice site	probably benign
IGL01472:Antxr2	APN	5	98,027,499 (GRCm38)	missense	probably benign	0.00
IGL01719:Antxr2	APN	5	97,948,273 (GRCm38)	missense	possibly damaging	0.82
IGL02184:Antxr2	APN	5	97,977,595 (GRCm38)	splice site	probably null
IGL02199:Antxr2	APN	5	97,977,595 (GRCm38)	splice site	probably null
IGL02250:Antxr2	APN	5	97,977,595 (GRCm38)	splice site	probably null
IGL02251:Antxr2	APN	5	97,977,595 (GRCm38)	splice site	probably null
IGL02368:Antxr2	APN	5	97,949,198 (GRCm38)	missense	probably damaging	1.00
IGL02447:Antxr2	APN	5	98,030,408 (GRCm38)	missense	possibly damaging	0.61
IGL02740:Antxr2	APN	5	98,030,392 (GRCm38)	splice site	probably benign
IGL02850:Antxr2	APN	5	98,004,078 (GRCm38)	missense	probably damaging	1.00
IGL02867:Antxr2	APN	5	97,977,650 (GRCm38)	missense	probably benign	0.00
IGL02889:Antxr2	APN	5	97,977,650 (GRCm38)	missense	probably benign	0.00
G1Funyon:Antxr2	UTSW	5	97,977,679 (GRCm38)	missense	probably benign	0.20
R0013:Antxr2	UTSW	5	97,979,985 (GRCm38)	missense	probably damaging	0.98
R0040:Antxr2	UTSW	5	97,938,425 (GRCm38)	missense	possibly damaging	0.74
R0040:Antxr2	UTSW	5	97,938,425 (GRCm38)	missense	possibly damaging	0.74
R0069:Antxr2	UTSW	5	97,948,250 (GRCm38)	missense	possibly damaging	0.95
R0367:Antxr2	UTSW	5	98,029,596 (GRCm38)	missense	probably benign	0.01
R0638:Antxr2	UTSW	5	97,960,637 (GRCm38)	nonsense	probably null
R0732:Antxr2	UTSW	5	97,960,708 (GRCm38)	splice site	probably null
R1255:Antxr2	UTSW	5	97,975,372 (GRCm38)	missense	probably benign	0.39
R1471:Antxr2	UTSW	5	97,975,340 (GRCm38)	missense	possibly damaging	0.88
R1520:Antxr2	UTSW	5	97,960,692 (GRCm38)	missense	probably benign	0.38
R1660:Antxr2	UTSW	5	97,975,350 (GRCm38)	nonsense	probably null
R1870:Antxr2	UTSW	5	98,030,438 (GRCm38)	missense	probably damaging	1.00
R2969:Antxr2	UTSW	5	98,030,416 (GRCm38)	nonsense	probably null
R3547:Antxr2	UTSW	5	97,977,657 (GRCm38)	missense	probably benign	0.09
R4237:Antxr2	UTSW	5	97,938,407 (GRCm38)	missense	probably damaging	1.00
R4660:Antxr2	UTSW	5	98,004,054 (GRCm38)	critical splice donor site	probably null
R4702:Antxr2	UTSW	5	97,949,169 (GRCm38)	critical splice donor site	probably null
R4893:Antxr2	UTSW	5	98,004,072 (GRCm38)	missense	probably damaging	1.00
R4997:Antxr2	UTSW	5	97,977,694 (GRCm38)	missense	probably benign	0.04
R5388:Antxr2	UTSW	5	97,977,599 (GRCm38)	critical splice donor site	probably null
R5604:Antxr2	UTSW	5	97,948,310 (GRCm38)	missense	probably damaging	0.98
R6093:Antxr2	UTSW	5	98,030,460 (GRCm38)	missense	probably damaging	0.99
R6118:Antxr2	UTSW	5	97,949,201 (GRCm38)	missense	probably damaging	1.00
R6130:Antxr2	UTSW	5	98,004,272 (GRCm38)	missense	possibly damaging	0.89
R6139:Antxr2	UTSW	5	97,977,706 (GRCm38)	splice site	probably null
R6992:Antxr2	UTSW	5	97,960,705 (GRCm38)	missense	probably benign	0.09
R8127:Antxr2	UTSW	5	97,980,017 (GRCm38)	nonsense	probably null
R8267:Antxr2	UTSW	5	97,965,762 (GRCm38)	critical splice acceptor site	probably null
R8301:Antxr2	UTSW	5	97,977,679 (GRCm38)	missense	probably benign	0.20
R8324:Antxr2	UTSW	5	97,938,509 (GRCm38)	missense	probably damaging	1.00
R8840:Antxr2	UTSW	5	98,004,910 (GRCm38)	missense	probably damaging	1.00
R9125:Antxr2	UTSW	5	98,004,114 (GRCm38)	missense	probably damaging	1.00
R9340:Antxr2	UTSW	5	97,938,447 (GRCm38)	missense	probably damaging	0.98
R9722:Antxr2	UTSW	5	97,948,327 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GTCATTTCCCTATGAGCCTGGAGC -3'
(R):5'- TGTTAGACCCTGCGACAACACAAG -3'

Sequencing Primer
(F):5'- CCAGGTCATTAGAGCATAGAGC -3'
(R):5'- AGCTCAATGGGTAGTGGTGA -3'

Posted On

2013-04-16