Incidental Mutation 'R4322:Actrt2'
| ID |
323866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actrt2
|
| Ensembl Gene |
ENSMUSG00000051276 |
| Gene Name |
actin-related protein T2 |
| Synonyms |
1700052K15Rik, Arp-T2, Arpm2 |
| MMRRC Submission |
041093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4322 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154750890-154752324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 154751701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 145
(A145V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060062]
|
| AlphaFold |
Q9D9L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060062
AA Change: A145V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: A145V
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
9 |
377 |
1.01e-146 |
SMART |
|
| Meta Mutation Damage Score |
0.5014 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
94% (48/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
| Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
| Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
| Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
| Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
| Mc4r |
T |
C |
18: 66,992,121 (GRCm39) |
R331G |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
| Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
| Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 19,007,960 (GRCm39) |
F264L |
probably damaging |
Het |
| Vtn |
A |
T |
11: 78,390,916 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Actrt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Actrt2
|
APN |
4 |
154,751,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02323:Actrt2
|
APN |
4 |
154,751,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0526:Actrt2
|
UTSW |
4 |
154,751,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Actrt2
|
UTSW |
4 |
154,751,371 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2120:Actrt2
|
UTSW |
4 |
154,751,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4623:Actrt2
|
UTSW |
4 |
154,751,747 (GRCm39) |
missense |
probably benign |
|
|
R4824:Actrt2
|
UTSW |
4 |
154,751,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Actrt2
|
UTSW |
4 |
154,752,026 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R5880:Actrt2
|
UTSW |
4 |
154,751,747 (GRCm39) |
missense |
probably benign |
|
|
R6026:Actrt2
|
UTSW |
4 |
154,751,047 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6763:Actrt2
|
UTSW |
4 |
154,751,836 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7247:Actrt2
|
UTSW |
4 |
154,751,880 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7502:Actrt2
|
UTSW |
4 |
154,751,383 (GRCm39) |
missense |
probably benign |
|
|
R7896:Actrt2
|
UTSW |
4 |
154,751,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8032:Actrt2
|
UTSW |
4 |
154,751,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8108:Actrt2
|
UTSW |
4 |
154,751,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8794:Actrt2
|
UTSW |
4 |
154,751,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9105:Actrt2
|
UTSW |
4 |
154,751,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Actrt2
|
UTSW |
4 |
154,751,920 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Actrt2
|
UTSW |
4 |
154,751,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGATGTCATCCGCCAG -3'
(R):5'- GATGTGGAGAAACTCTGGAGACATC -3'
Sequencing Primer
(F):5'- ATGGAAAGGCTCGTCCACTG -3'
(R):5'- GGAGAAACTCTGGAGACATCTCTTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation