Incidental Mutation 'R5670:Cap2'
| ID |
442594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cap2
|
| Ensembl Gene |
ENSMUSG00000021373 |
| Gene Name |
cyclase associated actin cytoskeleton regulatory protein 2 |
| Synonyms |
2810452G09Rik |
| MMRRC Submission |
043313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5670 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
46655379-46803757 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 46684559 bp (GRCm39)
|
| 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: 99.3%
- 3x: 98.7%
- 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
T |
C |
5: 100,127,068 (GRCm39) |
|
probably benign |
Het |
| Ahsg |
T |
A |
16: 22,716,913 (GRCm39) |
N158K |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,004,774 (GRCm39) |
M430T |
probably benign |
Het |
| Becn2 |
C |
T |
1: 175,749,179 (GRCm39) |
T415M |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,384,759 (GRCm39) |
M588K |
probably damaging |
Het |
| Btla |
A |
T |
16: 45,070,782 (GRCm39) |
D247V |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,463,300 (GRCm39) |
|
probably null |
Het |
| Copg1 |
C |
T |
6: 87,889,217 (GRCm39) |
T853M |
probably damaging |
Het |
| Ddb2 |
C |
T |
2: 91,042,926 (GRCm39) |
V353M |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,087,985 (GRCm39) |
D973G |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,519,364 (GRCm39) |
T791I |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,643 (GRCm39) |
L65F |
probably damaging |
Het |
| Fer1l6 |
C |
T |
15: 58,494,331 (GRCm39) |
P1175S |
probably benign |
Het |
| Fzd6 |
A |
T |
15: 38,894,510 (GRCm39) |
R225S |
probably benign |
Het |
| Glce |
A |
G |
9: 61,967,793 (GRCm39) |
S453P |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,424,805 (GRCm39) |
T451I |
probably benign |
Het |
| Igkv8-18 |
C |
T |
6: 70,333,133 (GRCm39) |
T25I |
probably benign |
Het |
| Ikzf2 |
A |
G |
1: 69,617,059 (GRCm39) |
V96A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,318,863 (GRCm39) |
T38A |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,250 (GRCm39) |
T353A |
probably benign |
Het |
| Mfsd8 |
A |
T |
3: 40,776,484 (GRCm39) |
N389K |
probably benign |
Het |
| Mttp |
A |
T |
3: 137,830,874 (GRCm39) |
V65D |
probably damaging |
Het |
| Ndufaf4 |
A |
T |
4: 24,898,636 (GRCm39) |
D64V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,462 (GRCm39) |
T213A |
probably benign |
Het |
| Nkain4 |
A |
G |
2: 180,584,995 (GRCm39) |
L73P |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,419,745 (GRCm39) |
S977T |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,006 (GRCm39) |
V251D |
probably benign |
Het |
| Or2y1d |
T |
G |
11: 49,322,035 (GRCm39) |
L244R |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,308 (GRCm39) |
I155M |
probably benign |
Het |
| Or5k1 |
G |
A |
16: 58,617,424 (GRCm39) |
P262S |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,334,156 (GRCm39) |
S410P |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,078 (GRCm39) |
M456V |
probably damaging |
Het |
| Pi16 |
C |
T |
17: 29,545,870 (GRCm39) |
T216I |
probably damaging |
Het |
| Plekha2 |
C |
A |
8: 25,549,254 (GRCm39) |
A177S |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
| Prss16 |
C |
T |
13: 22,187,221 (GRCm39) |
V450I |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,009,402 (GRCm39) |
L1086H |
probably damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,954,096 (GRCm39) |
P56L |
probably benign |
Het |
| Rgs21 |
A |
G |
1: 144,412,680 (GRCm39) |
V48A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,512 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
G |
T |
5: 24,639,836 (GRCm39) |
V506L |
probably damaging |
Het |
| Sptbn5 |
C |
G |
2: 119,916,048 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
C |
T |
5: 5,723,681 (GRCm39) |
V400I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,997,733 (GRCm39) |
G2236D |
probably benign |
Het |
| Tespa1 |
T |
C |
10: 130,190,624 (GRCm39) |
S84P |
probably damaging |
Het |
| Tlx2 |
G |
A |
6: 83,046,807 (GRCm39) |
A85V |
possibly damaging |
Het |
| Tm4sf1 |
A |
T |
3: 57,200,508 (GRCm39) |
F65I |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,253 (GRCm39) |
I456V |
probably damaging |
Het |
| Tpte |
C |
T |
8: 22,817,764 (GRCm39) |
S250F |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,942,536 (GRCm39) |
F946S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,146,910 (GRCm39) |
Y459* |
probably null |
Het |
| Vps54 |
T |
A |
11: 21,214,864 (GRCm39) |
I112N |
probably damaging |
Het |
| Vwa1 |
A |
G |
4: 155,858,922 (GRCm39) |
L13P |
probably damaging |
Het |
| Zfp648 |
C |
A |
1: 154,079,963 (GRCm39) |
Q41K |
probably benign |
Het |
|
| Other mutations in Cap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01810:Cap2
|
APN |
13 |
46,793,425 (GRCm39) |
splice site |
probably benign |
|
|
IGL01927:Cap2
|
APN |
13 |
46,789,109 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02213:Cap2
|
APN |
13 |
46,789,087 (GRCm39) |
splice site |
probably benign |
|
|
IGL02511:Cap2
|
APN |
13 |
46,684,498 (GRCm39) |
start codon destroyed |
probably null |
0.12 |
|
IGL02871:Cap2
|
APN |
13 |
46,678,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0063:Cap2
|
UTSW |
13 |
46,791,508 (GRCm39) |
splice site |
probably benign |
|
|
R0063:Cap2
|
UTSW |
13 |
46,791,508 (GRCm39) |
splice site |
probably benign |
|
|
R0234:Cap2
|
UTSW |
13 |
46,791,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0234:Cap2
|
UTSW |
13 |
46,791,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0385:Cap2
|
UTSW |
13 |
46,714,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Cap2
|
UTSW |
13 |
46,713,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0712:Cap2
|
UTSW |
13 |
46,768,837 (GRCm39) |
splice site |
probably null |
|
|
R1489:Cap2
|
UTSW |
13 |
46,763,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Cap2
|
UTSW |
13 |
46,768,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1668:Cap2
|
UTSW |
13 |
46,768,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1676:Cap2
|
UTSW |
13 |
46,791,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Cap2
|
UTSW |
13 |
46,684,489 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1822:Cap2
|
UTSW |
13 |
46,768,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1867:Cap2
|
UTSW |
13 |
46,793,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Cap2
|
UTSW |
13 |
46,791,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1990:Cap2
|
UTSW |
13 |
46,791,357 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1991:Cap2
|
UTSW |
13 |
46,791,357 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1992:Cap2
|
UTSW |
13 |
46,791,357 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2144:Cap2
|
UTSW |
13 |
46,713,978 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3039:Cap2
|
UTSW |
13 |
46,793,317 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4024:Cap2
|
UTSW |
13 |
46,791,317 (GRCm39) |
splice site |
probably benign |
|
|
R4554:Cap2
|
UTSW |
13 |
46,789,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Cap2
|
UTSW |
13 |
46,793,302 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4821:Cap2
|
UTSW |
13 |
46,763,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4876:Cap2
|
UTSW |
13 |
46,684,497 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4902:Cap2
|
UTSW |
13 |
46,684,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5320:Cap2
|
UTSW |
13 |
46,801,840 (GRCm39) |
makesense |
probably null |
|
|
R5666:Cap2
|
UTSW |
13 |
46,684,559 (GRCm39) |
splice site |
probably null |
|
|
R6086:Cap2
|
UTSW |
13 |
46,789,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Cap2
|
UTSW |
13 |
46,793,335 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6842:Cap2
|
UTSW |
13 |
46,800,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7785:Cap2
|
UTSW |
13 |
46,789,224 (GRCm39) |
missense |
probably benign |
|
|
R7889:Cap2
|
UTSW |
13 |
46,800,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8065:Cap2
|
UTSW |
13 |
46,791,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8205:Cap2
|
UTSW |
13 |
46,768,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Cap2
|
UTSW |
13 |
46,763,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8731:Cap2
|
UTSW |
13 |
46,800,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:Cap2
|
UTSW |
13 |
46,684,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9320:Cap2
|
UTSW |
13 |
46,768,818 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9491:Cap2
|
UTSW |
13 |
46,791,366 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9686:Cap2
|
UTSW |
13 |
46,678,926 (GRCm39) |
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