Incidental Mutation 'R4554:Cap2'
| ID |
341819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap2
|
| Ensembl Gene |
ENSMUSG00000021373 |
| Gene Name |
CAP, adenylate cyclase-associated protein, 2 (yeast) |
| Synonyms |
|
| MMRRC Submission |
041596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R4554 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
46501848-46650281 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46635774 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 152
(F152I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
| AlphaFold |
Q9CYT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021802
AA Change: F264I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: F264I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
5 |
301 |
2.6e-117 |
PFAM |
|
CARP
|
358 |
395 |
1.06e-10 |
SMART |
|
CARP
|
396 |
433 |
1.12e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119341
AA Change: F152I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: F152I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP_N
|
4 |
105 |
1.8e-25 |
PFAM |
|
Pfam:CAP_N
|
99 |
198 |
8.2e-29 |
PFAM |
|
CARP
|
246 |
283 |
1.06e-10 |
SMART |
|
CARP
|
284 |
321 |
1.12e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225444
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225824
AA Change: F209I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 122,156,343 (GRCm38) |
A1772V |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 67,027,893 (GRCm38) |
E518D |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,084,279 (GRCm38) |
R1414G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 9,014,930 (GRCm38) |
G4526D |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,624,617 (GRCm38) |
R2150H |
probably benign |
Het |
| Amh |
A |
T |
10: 80,807,051 (GRCm38) |
E356D |
probably benign |
Het |
| Chil3 |
T |
G |
3: 106,160,370 (GRCm38) |
K160Q |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,601,430 (GRCm38) |
M206K |
unknown |
Het |
| Gm960 |
T |
C |
19: 4,649,819 (GRCm38) |
Q452R |
possibly damaging |
Het |
| Lsamp |
G |
C |
16: 42,144,075 (GRCm38) |
D271H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 14,153,977 (GRCm38) |
|
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,861,580 (GRCm38) |
V133G |
probably damaging |
Het |
| Ngrn |
C |
T |
7: 80,264,701 (GRCm38) |
T200I |
possibly damaging |
Het |
| Olfr1084 |
T |
A |
2: 86,638,779 (GRCm38) |
N310Y |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,597,367 (GRCm38) |
T117A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,103,085 (GRCm38) |
Q135R |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,403,021 (GRCm38) |
K357E |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,680,940 (GRCm38) |
R325H |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,105,946 (GRCm38) |
P366L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,594,328 (GRCm38) |
N359S |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 29,105,008 (GRCm38) |
T499A |
probably benign |
Het |
| Tex2 |
G |
T |
11: 106,544,386 (GRCm38) |
P738H |
unknown |
Het |
| Thap12 |
A |
G |
7: 98,715,845 (GRCm38) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,670,733 (GRCm38) |
I902T |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 13,277,162 (GRCm38) |
N87D |
probably benign |
Het |
|
| Other mutations in Cap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01810:Cap2
|
APN |
13 |
46,639,949 (GRCm38) |
splice site |
probably benign |
|
|
IGL01927:Cap2
|
APN |
13 |
46,635,633 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02213:Cap2
|
APN |
13 |
46,635,611 (GRCm38) |
splice site |
probably benign |
|
|
IGL02511:Cap2
|
APN |
13 |
46,531,022 (GRCm38) |
start codon destroyed |
probably null |
0.12 |
|
IGL02871:Cap2
|
APN |
13 |
46,525,492 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0063:Cap2
|
UTSW |
13 |
46,638,032 (GRCm38) |
splice site |
probably benign |
|
|
R0063:Cap2
|
UTSW |
13 |
46,638,032 (GRCm38) |
splice site |
probably benign |
|
|
R0234:Cap2
|
UTSW |
13 |
46,638,022 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0234:Cap2
|
UTSW |
13 |
46,638,022 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0385:Cap2
|
UTSW |
13 |
46,560,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0387:Cap2
|
UTSW |
13 |
46,560,516 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0712:Cap2
|
UTSW |
13 |
46,615,361 (GRCm38) |
splice site |
probably null |
|
|
R1489:Cap2
|
UTSW |
13 |
46,609,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1666:Cap2
|
UTSW |
13 |
46,615,323 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1668:Cap2
|
UTSW |
13 |
46,615,323 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1676:Cap2
|
UTSW |
13 |
46,637,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1756:Cap2
|
UTSW |
13 |
46,531,013 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1822:Cap2
|
UTSW |
13 |
46,615,347 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1867:Cap2
|
UTSW |
13 |
46,640,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1972:Cap2
|
UTSW |
13 |
46,637,899 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1990:Cap2
|
UTSW |
13 |
46,637,881 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1991:Cap2
|
UTSW |
13 |
46,637,881 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1992:Cap2
|
UTSW |
13 |
46,637,881 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2144:Cap2
|
UTSW |
13 |
46,560,502 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3039:Cap2
|
UTSW |
13 |
46,639,841 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4024:Cap2
|
UTSW |
13 |
46,637,841 (GRCm38) |
splice site |
probably benign |
|
|
R4748:Cap2
|
UTSW |
13 |
46,639,826 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R4821:Cap2
|
UTSW |
13 |
46,610,110 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4876:Cap2
|
UTSW |
13 |
46,531,021 (GRCm38) |
start codon destroyed |
probably null |
|
|
R4902:Cap2
|
UTSW |
13 |
46,531,025 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5320:Cap2
|
UTSW |
13 |
46,648,364 (GRCm38) |
makesense |
probably null |
|
|
R5666:Cap2
|
UTSW |
13 |
46,531,083 (GRCm38) |
splice site |
probably null |
|
|
R5670:Cap2
|
UTSW |
13 |
46,531,083 (GRCm38) |
splice site |
probably null |
|
|
R6086:Cap2
|
UTSW |
13 |
46,635,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6728:Cap2
|
UTSW |
13 |
46,639,859 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6842:Cap2
|
UTSW |
13 |
46,646,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7785:Cap2
|
UTSW |
13 |
46,635,748 (GRCm38) |
missense |
probably benign |
|
|
R7889:Cap2
|
UTSW |
13 |
46,646,575 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8065:Cap2
|
UTSW |
13 |
46,637,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8205:Cap2
|
UTSW |
13 |
46,615,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8425:Cap2
|
UTSW |
13 |
46,609,732 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8731:Cap2
|
UTSW |
13 |
46,646,530 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8738:Cap2
|
UTSW |
13 |
46,531,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9320:Cap2
|
UTSW |
13 |
46,615,342 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9491:Cap2
|
UTSW |
13 |
46,637,890 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9686:Cap2
|
UTSW |
13 |
46,525,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAAGCTCCCATCTTCTG -3'
(R):5'- GAAGCCTATGTTCCTGGAGCTG -3'
Sequencing Primer
(F):5'- TGTCTCCCACAGGGTCC -3'
(R):5'- CCTATGTTCCTGGAGCTGGAGAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation