Incidental Mutation 'R6992:Antxr2'
| ID |
543893 |
| 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 |
045098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
98032547-98178876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98108564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 316
(T316A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031281]
[ENSMUST00000199088]
|
| AlphaFold |
Q6DFX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031281
AA Change: T316A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: T316A
| 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 benign
Transcript: ENSMUST00000199088
AA Change: T316A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: T316A
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
| 6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
| A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
| AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
| Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
| Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
| Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
| Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,266,118 (GRCm39) |
A282V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,590,860 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
| Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
| Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
| Il18rap |
G |
A |
1: 40,581,195 (GRCm39) |
E356K |
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,428,772 (GRCm39) |
M699L |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
| Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
| Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
| Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
| Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
| Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,310,715 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
| Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
| Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
| Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
| Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
| Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
| Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
| Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
| Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,436 (GRCm39) |
S508P |
possibly damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,952 (GRCm39) |
Y550N |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
probably benign |
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 |
|
|
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'- GTGACATTGATTCATATACCAGGCC -3'
(R):5'- TGCGGCATGTCTTGTTAACC -3'
Sequencing Primer
(F):5'- ATACCAGGCCTTACTTTGTATCGTAG -3'
(R):5'- GTTAACCATCTTCGCATGACATAAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation