Incidental Mutation 'R9242:Capg'
| ID |
701041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capg
|
| Ensembl Gene |
ENSMUSG00000056737 |
| Gene Name |
capping actin protein, gelsolin like |
| Synonyms |
mbh1, gCap39 |
| MMRRC Submission |
068988-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R9242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
72521374-72539966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72532869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 111
(P111L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071044]
[ENSMUST00000114071]
[ENSMUST00000114072]
[ENSMUST00000126101]
[ENSMUST00000126124]
[ENSMUST00000134809]
[ENSMUST00000155188]
[ENSMUST00000155705]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071044
AA Change: P111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: P111L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
GEL
|
136 |
228 |
1.86e-31 |
SMART |
|
GEL
|
253 |
348 |
5.76e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114071
AA Change: P111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: P111L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
GEL
|
136 |
228 |
1.86e-31 |
SMART |
|
GEL
|
253 |
348 |
5.76e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114072
AA Change: P111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: P111L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
GEL
|
136 |
228 |
1.86e-31 |
SMART |
|
GEL
|
253 |
348 |
5.76e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126101
AA Change: P111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: P111L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
GEL
|
136 |
228 |
1.86e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126124
AA Change: P111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737
AA Change: P111L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
GEL
|
136 |
193 |
1.19e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134809
|
| SMART Domains |
Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gelsolin
|
28 |
90 |
4.5e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155188
AA Change: P111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737
AA Change: P111L
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
113 |
8.6e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155705
|
| SMART Domains |
Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
19 |
104 |
1.27e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Inactivation of this loci results in impaired immune cell motility which manifests in homozygous mutant mice as increased susceptibility to some bacterial infections. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
C |
A |
5: 8,949,677 (GRCm39) |
T79K |
probably damaging |
Het |
| Ackr3 |
G |
T |
1: 90,142,558 (GRCm39) |
G339V |
probably damaging |
Het |
| Agpat4 |
G |
T |
17: 12,429,186 (GRCm39) |
R146L |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 102,998,936 (GRCm39) |
R364C |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,645,660 (GRCm39) |
T507A |
probably benign |
Het |
| Cand2 |
C |
G |
6: 115,768,923 (GRCm39) |
R578G |
probably benign |
Het |
| Carm1 |
C |
T |
9: 21,494,350 (GRCm39) |
T289I |
probably damaging |
Het |
| Ccr6 |
A |
G |
17: 8,474,965 (GRCm39) |
I57V |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,255,583 (GRCm39) |
I434V |
possibly damaging |
Het |
| Chrdl2 |
C |
T |
7: 99,655,743 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,220,109 (GRCm39) |
T640A |
probably benign |
Het |
| Ctsd |
T |
C |
7: 141,937,280 (GRCm39) |
|
probably null |
Het |
| D17H6S53E |
G |
T |
17: 35,346,536 (GRCm39) |
R149L |
possibly damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,769,706 (GRCm39) |
T77A |
probably benign |
Het |
| Emc2 |
T |
C |
15: 43,358,639 (GRCm39) |
M100T |
probably benign |
Het |
| Esrra |
A |
G |
19: 6,889,863 (GRCm39) |
V290A |
probably benign |
Het |
| Fbl |
T |
C |
7: 27,876,620 (GRCm39) |
I207T |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,420,375 (GRCm39) |
N314I |
possibly damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,354 (GRCm39) |
D175V |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,448,806 (GRCm39) |
M1840I |
probably benign |
Het |
| Helz |
T |
C |
11: 107,523,153 (GRCm39) |
L779P |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,289,064 (GRCm39) |
N331I |
probably damaging |
Het |
| Inmt |
C |
T |
6: 55,150,270 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
C |
T |
7: 139,061,634 (GRCm39) |
T102M |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,788,323 (GRCm39) |
Y161C |
probably benign |
Het |
| Lpin2 |
A |
G |
17: 71,553,966 (GRCm39) |
*932W |
probably null |
Het |
| Lrp3 |
C |
T |
7: 34,901,934 (GRCm39) |
R649H |
probably benign |
Het |
| Madd |
G |
A |
2: 90,973,949 (GRCm39) |
T1464I |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,777 (GRCm39) |
Y178* |
probably null |
Het |
| Or5ae2 |
A |
T |
7: 84,506,086 (GRCm39) |
K172* |
probably null |
Het |
| Or5b96 |
T |
A |
19: 12,867,989 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,627,604 (GRCm39) |
R22* |
probably null |
Het |
| Ptpru |
C |
T |
4: 131,530,341 (GRCm39) |
G560S |
probably damaging |
Het |
| Ralgapb |
G |
T |
2: 158,277,386 (GRCm39) |
R250L |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,076,228 (GRCm39) |
Y395* |
probably null |
Het |
| Slc35f6 |
G |
T |
5: 30,805,410 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,129 (GRCm39) |
V441A |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,295,228 (GRCm39) |
F77Y |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,229,406 (GRCm39) |
C148* |
probably null |
Het |
| Sox10 |
T |
C |
15: 79,040,640 (GRCm39) |
Y300C |
probably damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,383 (GRCm39) |
|
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,537 (GRCm39) |
V122A |
probably benign |
Het |
| Tpi1 |
T |
C |
6: 124,791,138 (GRCm39) |
Q33R |
probably benign |
Het |
| Unk |
T |
C |
11: 115,940,184 (GRCm39) |
V179A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,365,787 (GRCm39) |
G2214C |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,912 (GRCm39) |
Y40F |
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,192,748 (GRCm39) |
V144A |
probably benign |
Het |
| Wdpcp |
A |
G |
11: 21,835,040 (GRCm39) |
E681G |
probably benign |
Het |
|
| Other mutations in Capg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02529:Capg
|
APN |
6 |
72,532,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02569:Capg
|
APN |
6 |
72,538,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02613:Capg
|
APN |
6 |
72,532,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02629:Capg
|
APN |
6 |
72,532,737 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02964:Capg
|
APN |
6 |
72,539,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0014:Capg
|
UTSW |
6 |
72,538,026 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1937:Capg
|
UTSW |
6 |
72,535,236 (GRCm39) |
splice site |
probably null |
|
|
R2378:Capg
|
UTSW |
6 |
72,532,474 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4284:Capg
|
UTSW |
6 |
72,538,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5043:Capg
|
UTSW |
6 |
72,535,237 (GRCm39) |
nonsense |
probably null |
|
|
R5233:Capg
|
UTSW |
6 |
72,532,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Capg
|
UTSW |
6 |
72,532,483 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6486:Capg
|
UTSW |
6 |
72,534,733 (GRCm39) |
nonsense |
probably null |
|
|
R6792:Capg
|
UTSW |
6 |
72,532,537 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7760:Capg
|
UTSW |
6 |
72,534,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Capg
|
UTSW |
6 |
72,533,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9243:Capg
|
UTSW |
6 |
72,538,070 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Capg
|
UTSW |
6 |
72,532,459 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Capg
|
UTSW |
6 |
72,533,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTTCAGGGACCTTGCCTC -3'
(R):5'- GTGAAATGCCGACTCTACACC -3'
Sequencing Primer
(F):5'- GGACCTTGCCTCTCGCC -3'
(R):5'- AAACCGGGCTGAGTGGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation