Incidental Mutation 'R5438:Arpc2'
| ID |
428457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arpc2
|
| Ensembl Gene |
ENSMUSG00000006304 |
| Gene Name |
actin related protein 2/3 complex, subunit 2 |
| Synonyms |
p34-Arc, 2210023N03Rik |
| MMRRC Submission |
043003-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74275656-74307368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74275995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 4
(L4Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006467]
[ENSMUST00000113819]
[ENSMUST00000113820]
[ENSMUST00000185733]
|
| AlphaFold |
Q9CVB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006467
AA Change: L4Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006467
Gene: ENSMUSG00000006304
AA Change: L4Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P34-Arc
|
57 |
284 |
3.7e-107 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113819
|
| SMART Domains |
Protein: ENSMUSP00000109450
Gene: ENSMUSG00000006304
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P34-Arc
|
40 |
270 |
4.3e-107 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113820
AA Change: L4Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109451
Gene: ENSMUSG00000006304
AA Change: L4Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P34-Arc
|
56 |
286 |
4.2e-106 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185733
AA Change: L9Q
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,538,165 (GRCm39) |
Q244K |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,504,570 (GRCm39) |
V581I |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,151,288 (GRCm39) |
V3D |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,633,479 (GRCm39) |
F525L |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,040 (GRCm39) |
T180A |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,231,707 (GRCm39) |
T1127K |
possibly damaging |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,682,792 (GRCm39) |
I1076F |
possibly damaging |
Het |
| Elp4 |
A |
G |
2: 105,734,748 (GRCm39) |
F29S |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,650,799 (GRCm39) |
Y448* |
probably null |
Het |
| Fam219a |
A |
G |
4: 41,520,302 (GRCm39) |
S149P |
probably damaging |
Het |
| Gdap2 |
A |
T |
3: 100,085,629 (GRCm39) |
I184F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,376,527 (GRCm39) |
K153R |
probably damaging |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,428,605 (GRCm39) |
L277Q |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,107,769 (GRCm39) |
S2128T |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,321 (GRCm39) |
S919T |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,661,455 (GRCm39) |
N1163S |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,618 (GRCm39) |
C807* |
probably null |
Het |
| Or52n5 |
G |
A |
7: 104,588,344 (GRCm39) |
V204I |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,925 (GRCm39) |
F255L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,207 (GRCm39) |
N62S |
unknown |
Het |
| Pcdh18 |
A |
T |
3: 49,710,465 (GRCm39) |
Y283* |
probably null |
Het |
| Ptger2 |
A |
T |
14: 45,227,101 (GRCm39) |
H227L |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,910,785 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,708,302 (GRCm39) |
D98E |
probably benign |
Het |
| Smad1 |
A |
T |
8: 80,082,949 (GRCm39) |
F184I |
probably benign |
Het |
| Sncg |
C |
T |
14: 34,095,637 (GRCm39) |
V52I |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Zc3h11a |
C |
T |
1: 133,568,385 (GRCm39) |
R88H |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,138,894 (GRCm39) |
V46A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,193 (GRCm39) |
C423S |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,705 (GRCm39) |
H841Q |
possibly damaging |
Het |
|
| Other mutations in Arpc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Arpc2
|
APN |
1 |
74,287,338 (GRCm39) |
missense |
probably benign |
|
|
R0220:Arpc2
|
UTSW |
1 |
74,287,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Arpc2
|
UTSW |
1 |
74,276,046 (GRCm39) |
missense |
probably null |
|
|
R1695:Arpc2
|
UTSW |
1 |
74,287,391 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4183:Arpc2
|
UTSW |
1 |
74,287,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5144:Arpc2
|
UTSW |
1 |
74,287,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Arpc2
|
UTSW |
1 |
74,295,108 (GRCm39) |
splice site |
probably null |
|
|
R6017:Arpc2
|
UTSW |
1 |
74,301,645 (GRCm39) |
missense |
probably benign |
|
|
R7173:Arpc2
|
UTSW |
1 |
74,303,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Arpc2
|
UTSW |
1 |
74,302,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9275:Arpc2
|
UTSW |
1 |
74,276,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9278:Arpc2
|
UTSW |
1 |
74,276,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9664:Arpc2
|
UTSW |
1 |
74,294,034 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGAGCGTAGGACTCTC -3'
(R):5'- TCCATCCTGCCAGGGAAAC -3'
Sequencing Primer
(F):5'- CCGGGATCGTCAAGTAAGGC -3'
(R):5'- GAAACCCTGAAGCCGCG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation