Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Antxr2'

56807

Institutional Source

Beutler Lab

Gene Symbol

Antxr2

Ensembl Gene

ENSMUSG00000029338

Gene Name

anthrax toxin receptor 2

Synonyms

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

MMRRC Submission

038827-MU

Accession Numbers

Essential gene?

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

Stock #

R0638 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

98032547-98178876 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 98108496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 338 (W338*)

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: W338*

SMART Domains

Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: W338*

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 null
Transcript: ENSMUST00000199088
AA Change: W338*

SMART Domains

Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: W338*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly 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
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
R2969:Antxr2	UTSW	5	98,178,275 (GRCm39)	nonsense	probably null
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'- ATGGTGGTGGAAAGCAGCATCC -3'
(R):5'- CCCAGTGTGGGCTTCTTACAAAGG -3'

Sequencing Primer
(F):5'- GAGTGGAAATGACTTTCATCCC -3'
(R):5'- TGTGGGCTTCTTACAAAGGATAAAG -3'

Posted On

2013-07-11