Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Antxr2'

643977

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

067725-MU

Accession Numbers

Essential gene?

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

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98032547-98178876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98086368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 413 (N413S)

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: N413S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: N413S

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: N413S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: N413S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Acan	A	G	7: 78,740,804 (GRCm39)	E390G	probably damaging	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,613,526 (GRCm39)	R79*	probably null	Het
Cdan1	A	G	2: 120,557,806 (GRCm39)	V507A	probably benign	Het
Cdkl3	T	A	11: 51,913,706 (GRCm39)		probably null	Het
Chst5	A	T	8: 112,617,140 (GRCm39)	L160Q	probably benign	Het
Col11a1	C	G	3: 113,958,059 (GRCm39)	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,632,853 (GRCm39)	E1470D	probably benign	Het
Cpped1	T	A	16: 11,623,340 (GRCm39)	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,621,735 (GRCm39)	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,878,502 (GRCm39)	S15P	probably benign	Het
Ddx46	T	C	13: 55,811,727 (GRCm39)	S643P	probably damaging	Het
Defb34	A	G	8: 19,173,814 (GRCm39)	Q16R	probably null	Het
Dhrs2	T	A	14: 55,476,221 (GRCm39)	V147E	probably damaging	Het
Dnah5	G	T	15: 28,347,011 (GRCm39)	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,781,901 (GRCm39)	I93F	probably benign	Het
Eef1e1	T	A	13: 38,839,045 (GRCm39)	D104V	probably damaging	Het
Egfr	A	G	11: 16,808,971 (GRCm39)	Y55C	probably damaging	Het
Egfr	A	C	11: 16,858,885 (GRCm39)	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,770,026 (GRCm39)	V426F	possibly damaging	Het
Elp1	C	T	4: 56,772,491 (GRCm39)	E877K	probably damaging	Het
Fam234a	C	T	17: 26,437,672 (GRCm39)	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688 (GRCm39)	M590K	probably damaging	Het
Gm13287	T	C	4: 88,721,875 (GRCm39)	S129P	probably damaging	Het
Heatr5b	A	G	17: 79,062,793 (GRCm39)	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Itpr2	T	C	6: 146,229,896 (GRCm39)	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,254,219 (GRCm39)	L186P	probably damaging	Het
Krt72	T	A	15: 101,690,580 (GRCm39)	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,427,275 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,079,506 (GRCm39)	T914A	probably benign	Het
Lrrtm4	A	G	6: 79,998,974 (GRCm39)	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636 (GRCm39)	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,306,956 (GRCm39)	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,743,212 (GRCm39)	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,336,114 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,673,117 (GRCm39)		probably null	Het
Myo1d	T	A	11: 80,448,347 (GRCm39)	D926V	probably damaging	Het
Ncapg	T	G	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,189,570 (GRCm39)	S212P	probably benign	Het
Or52p1	G	A	7: 104,267,321 (GRCm39)	R145H	probably benign	Het
Pak2	T	C	16: 31,871,029 (GRCm39)	N51S	probably benign	Het
Papln	T	C	12: 83,833,393 (GRCm39)	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,170,426 (GRCm39)	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,818 (GRCm39)	E990G	probably damaging	Het
Peak1	A	T	9: 56,114,760 (GRCm39)	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,534,771 (GRCm39)	N285D	probably benign	Het
Pramel13	A	C	4: 144,122,427 (GRCm39)	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,375,960 (GRCm39)	S897P	possibly damaging	Het
Rad51	A	G	2: 118,954,312 (GRCm39)	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,290,738 (GRCm39)	T255S	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rictor	T	A	15: 6,775,043 (GRCm39)	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,524,746 (GRCm39)	D664N	possibly damaging	Het
Rreb1	T	A	13: 38,131,597 (GRCm39)	W1584R	probably damaging	Het
Rxra	T	C	2: 27,631,195 (GRCm39)	I142T	probably damaging	Het
Sall2	T	C	14: 52,550,343 (GRCm39)	T951A	probably benign	Het
Slc15a2	T	G	16: 36,579,669 (GRCm39)	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,314,373 (GRCm39)	*603Q	probably null	Het
Sptb	T	C	12: 76,665,936 (GRCm39)	D894G	possibly damaging	Het
Srgn	A	G	10: 62,343,444 (GRCm39)	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,733,205 (GRCm39)		probably null	Het
Trav9n-4	T	C	14: 53,532,403 (GRCm39)	F86L	probably benign	Het
Trp63	A	G	16: 25,695,484 (GRCm39)	Y482C	unknown	Het
Ttc9b	G	T	7: 27,353,394 (GRCm39)	A15S	probably damaging	Het
Urb1	A	T	16: 90,588,078 (GRCm39)	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,214,727 (GRCm39)	K237*	probably null	Het
Wwox	G	A	8: 115,215,745 (GRCm39)		probably null	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
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
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'- GACCTTAGTCTTTCTCGGGG -3'
(R):5'- GGAACCCATTAAAGCTCAGGAG -3'

Sequencing Primer
(F):5'- CCTTAGTCTTTCTCGGGGGACAG -3'
(R):5'- CCCATTAAAGCTCAGGAGAAAAG -3'

Posted On

2020-09-02