Incidental Mutation 'R5159:Armc2'
ID |
396884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armc2
|
Ensembl Gene |
ENSMUSG00000071324 |
Gene Name |
armadillo repeat containing 2 |
Synonyms |
2610018I05Rik |
MMRRC Submission |
042741-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5159 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
41790986-41894438 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41884711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 77
(S77P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095729]
[ENSMUST00000160262]
[ENSMUST00000161081]
[ENSMUST00000161927]
[ENSMUST00000162405]
|
AlphaFold |
Q3URY6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095729
AA Change: S77P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093397 Gene: ENSMUSG00000071324 AA Change: S77P
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
low complexity region
|
222 |
237 |
N/A |
INTRINSIC |
low complexity region
|
272 |
281 |
N/A |
INTRINSIC |
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
ARM
|
355 |
393 |
7.53e1 |
SMART |
ARM
|
400 |
453 |
3.69e1 |
SMART |
ARM
|
454 |
496 |
8.23e1 |
SMART |
Blast:ARM
|
497 |
540 |
1e-16 |
BLAST |
Blast:ARM
|
542 |
603 |
1e-6 |
BLAST |
Blast:ARM
|
603 |
649 |
7e-20 |
BLAST |
Blast:ARM
|
653 |
692 |
3e-8 |
BLAST |
ARM
|
693 |
733 |
4.41e1 |
SMART |
ARM
|
734 |
777 |
2.7e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160262
AA Change: S77P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125412 Gene: ENSMUSG00000071324 AA Change: S77P
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
low complexity region
|
222 |
237 |
N/A |
INTRINSIC |
low complexity region
|
272 |
281 |
N/A |
INTRINSIC |
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
ARM
|
355 |
393 |
7.53e1 |
SMART |
ARM
|
400 |
453 |
3.69e1 |
SMART |
ARM
|
454 |
496 |
8.23e1 |
SMART |
Blast:ARM
|
497 |
540 |
1e-16 |
BLAST |
Blast:ARM
|
542 |
603 |
1e-6 |
BLAST |
Blast:ARM
|
603 |
649 |
7e-20 |
BLAST |
Blast:ARM
|
653 |
692 |
3e-8 |
BLAST |
ARM
|
693 |
733 |
4.41e1 |
SMART |
ARM
|
734 |
777 |
2.7e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161081
AA Change: S77P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125719 Gene: ENSMUSG00000071324 AA Change: S77P
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161927
|
SMART Domains |
Protein: ENSMUSP00000124049 Gene: ENSMUSG00000071324
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162405
|
SMART Domains |
Protein: ENSMUSP00000125583 Gene: ENSMUSG00000071324
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0739 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,100,530 (GRCm39) |
H323R |
probably damaging |
Het |
Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
Coro1a |
A |
T |
7: 126,302,221 (GRCm39) |
V42D |
probably damaging |
Het |
Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
Ireb2 |
A |
G |
9: 54,799,831 (GRCm39) |
N424S |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,828,719 (GRCm39) |
N389S |
probably benign |
Het |
Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
Por |
A |
T |
5: 135,759,771 (GRCm39) |
Q194L |
probably benign |
Het |
Prkag3 |
A |
T |
1: 74,780,646 (GRCm39) |
Y396N |
probably damaging |
Het |
R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
Tulp1 |
A |
C |
17: 28,578,034 (GRCm39) |
|
probably null |
Het |
Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
|
Other mutations in Armc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4131001:Armc2
|
UTSW |
10 |
41,823,883 (GRCm39) |
splice site |
probably benign |
|
R0144:Armc2
|
UTSW |
10 |
41,823,883 (GRCm39) |
splice site |
probably benign |
|
R0427:Armc2
|
UTSW |
10 |
41,876,406 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0540:Armc2
|
UTSW |
10 |
41,798,691 (GRCm39) |
missense |
probably benign |
0.11 |
R0561:Armc2
|
UTSW |
10 |
41,869,188 (GRCm39) |
missense |
probably benign |
0.02 |
R0607:Armc2
|
UTSW |
10 |
41,798,691 (GRCm39) |
missense |
probably benign |
0.11 |
R1099:Armc2
|
UTSW |
10 |
41,793,183 (GRCm39) |
missense |
probably benign |
0.39 |
R1130:Armc2
|
UTSW |
10 |
41,887,830 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2116:Armc2
|
UTSW |
10 |
41,839,663 (GRCm39) |
missense |
probably damaging |
0.98 |
R2870:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2870:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2871:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2871:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2872:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2872:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R2873:Armc2
|
UTSW |
10 |
41,842,696 (GRCm39) |
critical splice donor site |
probably null |
|
R3083:Armc2
|
UTSW |
10 |
41,842,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Armc2
|
UTSW |
10 |
41,798,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R3784:Armc2
|
UTSW |
10 |
41,798,190 (GRCm39) |
missense |
probably benign |
0.08 |
R3880:Armc2
|
UTSW |
10 |
41,839,721 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4024:Armc2
|
UTSW |
10 |
41,869,054 (GRCm39) |
missense |
probably benign |
|
R4155:Armc2
|
UTSW |
10 |
41,887,863 (GRCm39) |
missense |
probably damaging |
0.96 |
R4370:Armc2
|
UTSW |
10 |
41,793,196 (GRCm39) |
missense |
probably benign |
0.13 |
R4378:Armc2
|
UTSW |
10 |
41,869,078 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4896:Armc2
|
UTSW |
10 |
41,799,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Armc2
|
UTSW |
10 |
41,798,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R5517:Armc2
|
UTSW |
10 |
41,839,846 (GRCm39) |
missense |
probably benign |
0.29 |
R5640:Armc2
|
UTSW |
10 |
41,887,894 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5767:Armc2
|
UTSW |
10 |
41,887,923 (GRCm39) |
missense |
probably benign |
0.02 |
R5965:Armc2
|
UTSW |
10 |
41,798,568 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6897:Armc2
|
UTSW |
10 |
41,869,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7233:Armc2
|
UTSW |
10 |
41,799,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R7829:Armc2
|
UTSW |
10 |
41,802,856 (GRCm39) |
missense |
probably benign |
|
R7832:Armc2
|
UTSW |
10 |
41,842,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R7999:Armc2
|
UTSW |
10 |
41,887,954 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8029:Armc2
|
UTSW |
10 |
41,802,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Armc2
|
UTSW |
10 |
41,842,738 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8033:Armc2
|
UTSW |
10 |
41,884,680 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8191:Armc2
|
UTSW |
10 |
41,839,747 (GRCm39) |
missense |
probably benign |
0.29 |
R8304:Armc2
|
UTSW |
10 |
41,823,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Armc2
|
UTSW |
10 |
41,799,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R8370:Armc2
|
UTSW |
10 |
41,799,833 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9142:Armc2
|
UTSW |
10 |
41,851,404 (GRCm39) |
missense |
probably benign |
0.00 |
R9227:Armc2
|
UTSW |
10 |
41,823,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R9230:Armc2
|
UTSW |
10 |
41,823,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R9320:Armc2
|
UTSW |
10 |
41,839,774 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9708:Armc2
|
UTSW |
10 |
41,839,744 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9743:Armc2
|
UTSW |
10 |
41,798,598 (GRCm39) |
missense |
probably benign |
0.25 |
R9746:Armc2
|
UTSW |
10 |
41,800,457 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Armc2
|
UTSW |
10 |
41,839,652 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Armc2
|
UTSW |
10 |
41,803,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGAAGAAACCACTGGGGC -3'
(R):5'- AGGAAACTGTTAAAGGCTTTGATTG -3'
Sequencing Primer
(F):5'- TTAAAAACTGTAAAGGCACTGGC -3'
(R):5'- TAAAGGCTTTGATTGTTGCGACCAC -3'
|
Posted On |
2016-06-21 |