Incidental Mutation 'R5656:Clca3a2'
| ID |
442308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3a2
|
| Ensembl Gene |
ENSMUSG00000028262 |
| Gene Name |
chloride channel accessory 3A2 |
| Synonyms |
Clca2 |
| MMRRC Submission |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144796559-144819494 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144797632 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 852
(N852K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029929]
[ENSMUST00000199029]
|
| AlphaFold |
Q9EQR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029929
AA Change: N852K
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: N852K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
VWA
|
306 |
478 |
1.5e-21 |
SMART |
|
FN3
|
758 |
857 |
5.49e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197013
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199029
|
| SMART Domains |
Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLCA
|
1 |
188 |
6.5e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 105,709,512 (GRCm38) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,227,377 (GRCm38) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,621,328 (GRCm38) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 46,808,369 (GRCm38) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,605,431 (GRCm38) |
I60N |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,569,934 (GRCm38) |
V414A |
probably benign |
Het |
| Cd22 |
T |
G |
7: 30,869,773 (GRCm38) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,664,421 (GRCm38) |
I320F |
probably damaging |
Het |
| Cpa6 |
T |
A |
1: 10,329,514 (GRCm38) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,561,358 (GRCm38) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,064 (GRCm38) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,437,309 (GRCm38) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 54,917,127 (GRCm38) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 62,875,196 (GRCm38) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,662,654 (GRCm38) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,422,981 (GRCm38) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,245,661 (GRCm38) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,605,126 (GRCm38) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,683,532 (GRCm38) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 99,336,298 (GRCm38) |
K470E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 70,786,221 (GRCm38) |
T496A |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,285,286 (GRCm38) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm38) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,123,139 (GRCm38) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,622,866 (GRCm38) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,764,633 (GRCm38) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 27,051,645 (GRCm38) |
D415E |
possibly damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,190,871 (GRCm38) |
R651* |
probably null |
Het |
| Or1e1f |
T |
A |
11: 73,964,710 (GRCm38) |
M34K |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,530,380 (GRCm38) |
T280A |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,422,618 (GRCm38) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,673,717 (GRCm38) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,388,703 (GRCm38) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 30,965,866 (GRCm38) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,519,974 (GRCm38) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,353,417 (GRCm38) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 139,255,971 (GRCm38) |
S443T |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,490,072 (GRCm38) |
T1113A |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,636,136 (GRCm38) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,776,784 (GRCm38) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,419,118 (GRCm38) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,352,886 (GRCm38) |
V1343A |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,973,235 (GRCm38) |
D1064E |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,443,418 (GRCm38) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,154,664 (GRCm38) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,346,761 (GRCm38) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,678,407 (GRCm38) |
S93P |
probably damaging |
Het |
| Sult1c1 |
T |
C |
17: 53,964,652 (GRCm38) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,185,572 (GRCm38) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,594,780 (GRCm38) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,228,762 (GRCm38) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,480,708 (GRCm38) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,121,694 (GRCm38) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,774,654 (GRCm38) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,465,606 (GRCm38) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 103,250,840 (GRCm38) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,308,167 (GRCm38) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,464,151 (GRCm38) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,423,417 (GRCm38) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,637,982 (GRCm38) |
V233A |
probably benign |
Het |
|
| Other mutations in Clca3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Clca3a2
|
APN |
3 |
144,813,627 (GRCm38) |
nonsense |
probably null |
|
|
IGL01663:Clca3a2
|
APN |
3 |
144,817,155 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01779:Clca3a2
|
APN |
3 |
144,819,378 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02066:Clca3a2
|
APN |
3 |
144,813,455 (GRCm38) |
missense |
probably benign |
|
|
IGL02301:Clca3a2
|
APN |
3 |
144,806,372 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02619:Clca3a2
|
APN |
3 |
144,806,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02852:Clca3a2
|
APN |
3 |
144,806,343 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02901:Clca3a2
|
APN |
3 |
144,816,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03162:Clca3a2
|
APN |
3 |
144,806,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Clca3a2
|
UTSW |
3 |
144,816,733 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0244:Clca3a2
|
UTSW |
3 |
144,813,898 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1249:Clca3a2
|
UTSW |
3 |
144,803,004 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1370:Clca3a2
|
UTSW |
3 |
144,813,863 (GRCm38) |
splice site |
probably benign |
|
|
R1586:Clca3a2
|
UTSW |
3 |
144,810,716 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1776:Clca3a2
|
UTSW |
3 |
144,813,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1869:Clca3a2
|
UTSW |
3 |
144,806,403 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1871:Clca3a2
|
UTSW |
3 |
144,797,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1919:Clca3a2
|
UTSW |
3 |
144,810,696 (GRCm38) |
missense |
probably benign |
|
|
R1923:Clca3a2
|
UTSW |
3 |
144,805,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2200:Clca3a2
|
UTSW |
3 |
144,813,924 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2324:Clca3a2
|
UTSW |
3 |
144,806,280 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2937:Clca3a2
|
UTSW |
3 |
144,813,918 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3429:Clca3a2
|
UTSW |
3 |
144,806,327 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3434:Clca3a2
|
UTSW |
3 |
144,808,761 (GRCm38) |
unclassified |
probably benign |
|
|
R3551:Clca3a2
|
UTSW |
3 |
144,803,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3952:Clca3a2
|
UTSW |
3 |
144,803,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4120:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4383:Clca3a2
|
UTSW |
3 |
144,806,320 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4518:Clca3a2
|
UTSW |
3 |
144,808,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4598:Clca3a2
|
UTSW |
3 |
144,805,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4802:Clca3a2
|
UTSW |
3 |
144,807,351 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4816:Clca3a2
|
UTSW |
3 |
144,810,852 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4934:Clca3a2
|
UTSW |
3 |
144,817,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4942:Clca3a2
|
UTSW |
3 |
144,806,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5123:Clca3a2
|
UTSW |
3 |
144,806,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5156:Clca3a2
|
UTSW |
3 |
144,805,838 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5275:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5372:Clca3a2
|
UTSW |
3 |
144,797,525 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6059:Clca3a2
|
UTSW |
3 |
144,810,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6155:Clca3a2
|
UTSW |
3 |
144,819,357 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6254:Clca3a2
|
UTSW |
3 |
144,802,134 (GRCm38) |
missense |
probably benign |
|
|
R6336:Clca3a2
|
UTSW |
3 |
144,806,478 (GRCm38) |
missense |
probably benign |
|
|
R6470:Clca3a2
|
UTSW |
3 |
144,804,263 (GRCm38) |
splice site |
probably null |
|
|
R6593:Clca3a2
|
UTSW |
3 |
144,808,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6631:Clca3a2
|
UTSW |
3 |
144,813,644 (GRCm38) |
missense |
probably benign |
|
|
R6826:Clca3a2
|
UTSW |
3 |
144,818,054 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6836:Clca3a2
|
UTSW |
3 |
144,806,383 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6896:Clca3a2
|
UTSW |
3 |
144,808,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7211:Clca3a2
|
UTSW |
3 |
144,814,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7324:Clca3a2
|
UTSW |
3 |
144,808,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7411:Clca3a2
|
UTSW |
3 |
144,802,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7486:Clca3a2
|
UTSW |
3 |
144,797,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7491:Clca3a2
|
UTSW |
3 |
144,813,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7521:Clca3a2
|
UTSW |
3 |
144,801,913 (GRCm38) |
makesense |
probably null |
|
|
R7889:Clca3a2
|
UTSW |
3 |
144,810,813 (GRCm38) |
nonsense |
probably null |
|
|
R7946:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7991:Clca3a2
|
UTSW |
3 |
144,813,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8022:Clca3a2
|
UTSW |
3 |
144,805,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8344:Clca3a2
|
UTSW |
3 |
144,805,942 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8367:Clca3a2
|
UTSW |
3 |
144,817,747 (GRCm38) |
splice site |
probably null |
|
|
R8371:Clca3a2
|
UTSW |
3 |
144,807,353 (GRCm38) |
nonsense |
probably null |
|
|
R8814:Clca3a2
|
UTSW |
3 |
144,797,764 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9031:Clca3a2
|
UTSW |
3 |
144,805,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9069:Clca3a2
|
UTSW |
3 |
144,813,686 (GRCm38) |
splice site |
probably benign |
|
|
R9201:Clca3a2
|
UTSW |
3 |
144,813,923 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9261:Clca3a2
|
UTSW |
3 |
144,819,397 (GRCm38) |
missense |
probably benign |
|
|
R9469:Clca3a2
|
UTSW |
3 |
144,802,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9515:Clca3a2
|
UTSW |
3 |
144,803,047 (GRCm38) |
nonsense |
probably null |
|
|
R9569:Clca3a2
|
UTSW |
3 |
144,807,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9664:Clca3a2
|
UTSW |
3 |
144,797,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGCCTTTGAGTGTAGTAAAG -3'
(R):5'- CATCAGAGTGAGCCAGCATC -3'
Sequencing Primer
(F):5'- CAGTCAGCAAATATATACAGGGTTGC -3'
(R):5'- ATCCTCTGGGTCTCCAAGAAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation