Incidental Mutation 'R3771:Armc2'
| ID |
273288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc2
|
| Ensembl Gene |
ENSMUSG00000071324 |
| Gene Name |
armadillo repeat containing 2 |
| Synonyms |
2610018I05Rik |
| MMRRC Submission |
040747-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3771 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41790986-41894438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41798223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 768
(V768M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095729]
[ENSMUST00000160262]
[ENSMUST00000161927]
|
| AlphaFold |
Q3URY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095729
AA Change: V768M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: V768M
| 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 |
noncoding transcript
Transcript: ENSMUST00000105503
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160262
AA Change: V768M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: V768M
| 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 |
noncoding transcript
Transcript: ENSMUST00000160367
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
G |
T |
11: 116,487,697 (GRCm39) |
G132V |
probably damaging |
Het |
| Abcb11 |
T |
A |
2: 69,159,720 (GRCm39) |
|
probably benign |
Het |
| Adam26b |
T |
A |
8: 43,973,751 (GRCm39) |
D417V |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,613,913 (GRCm39) |
S1482P |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,908,130 (GRCm39) |
Y377H |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,596,814 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,925,424 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,578,640 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,594,913 (GRCm39) |
D16G |
probably damaging |
Het |
| Clstn2 |
A |
G |
9: 97,464,615 (GRCm39) |
I180T |
probably damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,550 (GRCm39) |
I184V |
probably benign |
Het |
| Dagla |
G |
A |
19: 10,225,831 (GRCm39) |
P778S |
possibly damaging |
Het |
| Ddx19b |
T |
C |
8: 111,747,613 (GRCm39) |
K107R |
probably benign |
Het |
| Dpyd |
G |
A |
3: 119,205,927 (GRCm39) |
|
probably null |
Het |
| Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
| Fam13a |
T |
G |
6: 58,964,171 (GRCm39) |
K87T |
probably benign |
Het |
| Fap |
C |
A |
2: 62,363,354 (GRCm39) |
S359I |
probably damaging |
Het |
| Fbxo39 |
T |
C |
11: 72,208,041 (GRCm39) |
I131T |
possibly damaging |
Het |
| Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
| Gm5866 |
T |
C |
5: 52,740,088 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
| Irf2bp2 |
T |
C |
8: 127,318,550 (GRCm39) |
K339E |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,567,166 (GRCm39) |
D75G |
probably damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,219,389 (GRCm39) |
T127A |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,541,083 (GRCm39) |
C725F |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,502,869 (GRCm39) |
I483L |
probably damaging |
Het |
| Man2c1 |
C |
A |
9: 57,047,661 (GRCm39) |
|
probably benign |
Het |
| Med23 |
G |
T |
10: 24,778,099 (GRCm39) |
G810C |
probably damaging |
Het |
| Nhlrc4 |
T |
A |
17: 26,162,367 (GRCm39) |
K127* |
probably null |
Het |
| Numb |
T |
C |
12: 83,846,350 (GRCm39) |
D344G |
probably damaging |
Het |
| Nup210l |
T |
G |
3: 90,027,201 (GRCm39) |
Y194* |
probably null |
Het |
| Ogg1 |
T |
C |
6: 113,310,804 (GRCm39) |
V317A |
possibly damaging |
Het |
| Or1o2 |
T |
A |
17: 37,542,356 (GRCm39) |
I302F |
possibly damaging |
Het |
| Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,589,422 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,088,174 (GRCm39) |
M195T |
probably benign |
Het |
| Polr3c |
T |
A |
3: 96,633,170 (GRCm39) |
T43S |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
| Rasl10b |
A |
T |
11: 83,309,349 (GRCm39) |
T134S |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
| Ros1 |
G |
T |
10: 52,005,087 (GRCm39) |
A949E |
probably damaging |
Het |
| Rwdd2a |
A |
C |
9: 86,456,214 (GRCm39) |
N130T |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
| Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
| Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,224,575 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
T |
A |
12: 101,660,833 (GRCm39) |
Q133L |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,720 (GRCm39) |
D650G |
unknown |
Het |
| Trio |
A |
G |
15: 27,748,177 (GRCm39) |
S2492P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,189,690 (GRCm39) |
F16S |
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,255,571 (GRCm39) |
M1T |
probably null |
Het |
| Vmn1r60 |
C |
A |
7: 5,547,710 (GRCm39) |
C130F |
possibly damaging |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,919 (GRCm39) |
D235G |
probably benign |
Het |
| Vpreb3 |
A |
T |
10: 75,775,800 (GRCm39) |
V26E |
probably benign |
Het |
| Vps39 |
C |
T |
2: 120,172,497 (GRCm39) |
V179I |
possibly damaging |
Het |
| Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
| Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
| Zfp61 |
T |
C |
7: 23,995,406 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
R5159:Armc2
|
UTSW |
10 |
41,884,711 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- CTTCATTCAAAACAGCCTTTAACCG -3'
(R):5'- ACTTAGCGACACCTCAGAGG -3'
Sequencing Primer
(F):5'- CAAAACAGCCTTTAACCGTATTTTC -3'
(R):5'- CGCATGTGTGAAAACCTCGTAGTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation