Incidental Mutation 'R5666:Cap2'
| ID |
444446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap2
|
| Ensembl Gene |
ENSMUSG00000021373 |
| Gene Name |
CAP, adenylate cyclase-associated protein, 2 (yeast) |
| Synonyms |
|
| MMRRC Submission |
043309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
46501848-46650281 bp(+) (GRCm38) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 46531083 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021802]
[ENSMUST00000119341]
[ENSMUST00000225824]
|
| AlphaFold |
Q9CYT6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021802
|
| SMART Domains |
Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
| 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 null
Transcript: ENSMUST00000119341
|
| SMART Domains |
Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
| 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 null
Transcript: ENSMUST00000225824
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 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 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
T |
C |
5: 99,979,209 (GRCm38) |
|
probably benign |
Het |
| Abce1 |
C |
A |
8: 79,690,277 (GRCm38) |
E368D |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,473,463 (GRCm38) |
M588K |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,454,233 (GRCm38) |
E503G |
probably benign |
Het |
| Btla |
A |
T |
16: 45,250,419 (GRCm38) |
D247V |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,441,717 (GRCm38) |
I1592K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,353,351 (GRCm38) |
E1202G |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,045,949 (GRCm38) |
I3568V |
possibly damaging |
Het |
| Col4a4 |
A |
G |
1: 82,485,579 (GRCm38) |
|
probably null |
Het |
| Cpxm2 |
C |
T |
7: 132,054,896 (GRCm38) |
E546K |
probably benign |
Het |
| Cyp2j5 |
C |
T |
4: 96,658,693 (GRCm38) |
V195I |
probably benign |
Het |
| Ddb2 |
C |
T |
2: 91,212,581 (GRCm38) |
V353M |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,718,164 (GRCm38) |
T791I |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 51,999,860 (GRCm38) |
L65F |
probably damaging |
Het |
| E2f1 |
T |
A |
2: 154,569,181 (GRCm38) |
|
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,222,491 (GRCm38) |
N732S |
probably benign |
Het |
| Fkbp10 |
G |
T |
11: 100,423,526 (GRCm38) |
W384L |
probably damaging |
Het |
| Foxm1 |
C |
T |
6: 128,373,167 (GRCm38) |
S339L |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 39,031,115 (GRCm38) |
R225S |
probably benign |
Het |
| Gfpt1 |
A |
T |
6: 87,053,813 (GRCm38) |
I60F |
possibly damaging |
Het |
| Glce |
A |
G |
9: 62,060,511 (GRCm38) |
S453P |
probably damaging |
Het |
| Gm38100 |
C |
T |
1: 175,921,613 (GRCm38) |
T415M |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,378,031 (GRCm38) |
T451I |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,569,793 (GRCm38) |
V22E |
probably damaging |
Het |
| Hspa9 |
T |
C |
18: 34,954,247 (GRCm38) |
I2V |
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,577,900 (GRCm38) |
V96A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,391,141 (GRCm38) |
T38A |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,897,330 (GRCm38) |
T353A |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,221,352 (GRCm38) |
I1744N |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,807,431 (GRCm38) |
G335S |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,389,526 (GRCm38) |
V382A |
possibly damaging |
Het |
| Ndufaf4 |
A |
T |
4: 24,898,636 (GRCm38) |
D64V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,677,118 (GRCm38) |
T213A |
probably benign |
Het |
| Nkain4 |
A |
G |
2: 180,943,202 (GRCm38) |
L73P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 103,058,215 (GRCm38) |
R299* |
probably null |
Het |
| Or1j20 |
T |
A |
2: 36,870,389 (GRCm38) |
D274E |
probably benign |
Het |
| Or2y8 |
A |
C |
11: 52,144,698 (GRCm38) |
Y277* |
probably null |
Het |
| Or4b12 |
T |
C |
2: 90,265,964 (GRCm38) |
I155M |
probably benign |
Het |
| Or5k1 |
G |
A |
16: 58,797,061 (GRCm38) |
P262S |
possibly damaging |
Het |
| Padi2 |
G |
T |
4: 140,949,231 (GRCm38) |
R560L |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,924,101 (GRCm38) |
N249S |
possibly damaging |
Het |
| Pde1c |
A |
C |
6: 56,126,857 (GRCm38) |
|
probably null |
Het |
| Pdgfra |
T |
C |
5: 75,173,495 (GRCm38) |
S410P |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,715,781 (GRCm38) |
M456V |
probably damaging |
Het |
| Pla2g2d |
T |
A |
4: 138,780,280 (GRCm38) |
C82S |
probably damaging |
Het |
| Rgs21 |
A |
G |
1: 144,536,942 (GRCm38) |
V48A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 (GRCm38) |
L57F |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,434,838 (GRCm38) |
V506L |
probably damaging |
Het |
| Slc7a4 |
A |
G |
16: 17,575,951 (GRCm38) |
|
probably benign |
Het |
| Sptbn5 |
C |
G |
2: 120,085,567 (GRCm38) |
|
probably benign |
Het |
| Sstr2 |
T |
A |
11: 113,624,713 (GRCm38) |
W153R |
probably damaging |
Het |
| Steap2 |
C |
T |
5: 5,673,681 (GRCm38) |
V400I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,950,959 (GRCm38) |
G2236D |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,630,379 (GRCm38) |
N151S |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,375,555 (GRCm38) |
S13P |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,344,955 (GRCm38) |
I456V |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,965,601 (GRCm38) |
F946S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 108,999,044 (GRCm38) |
Y459* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,774,465 (GRCm38) |
L13P |
probably damaging |
Het |
| Zfp648 |
C |
A |
1: 154,204,217 (GRCm38) |
Q41K |
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 |
|
|
R4554:Cap2
|
UTSW |
13 |
46,635,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TCCATGTGACCTGTGGCAAG -3'
(R):5'- ACAGCCCTGATTCTAGCACTC -3'
Sequencing Primer
(F):5'- GAGTAACCAAGCCGTTCT -3'
(R):5'- GGTAGTACCTATAATACTGCAGTTGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation