Incidental Mutation 'R5156:Clca3a2'
| ID |
396719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3a2
|
| Ensembl Gene |
ENSMUSG00000028262 |
| Gene Name |
chloride channel accessory 3A2 |
| Synonyms |
Clca2 |
| MMRRC Submission |
042738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144796559-144819494 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144805838 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 599
(T599S)
|
| 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: T599S
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: T599S
| 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 |
unknown
Transcript: ENSMUST00000197013
AA Change: T159S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198543
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
G |
T |
17: 79,628,209 (GRCm38) |
|
probably benign |
Het |
| Apeh |
C |
T |
9: 108,094,287 (GRCm38) |
A29T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,669,181 (GRCm38) |
Y1013* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,723,274 (GRCm38) |
E537G |
unknown |
Het |
| Asf1b |
T |
C |
8: 83,955,911 (GRCm38) |
F28S |
probably damaging |
Het |
| Cd46 |
T |
A |
1: 195,085,385 (GRCm38) |
I123L |
possibly damaging |
Het |
| Cdca7 |
A |
T |
2: 72,479,026 (GRCm38) |
T48S |
probably damaging |
Het |
| Cfap53 |
T |
A |
18: 74,359,767 (GRCm38) |
|
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,748,936 (GRCm38) |
T148S |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 131,097,670 (GRCm38) |
|
probably null |
Het |
| Dmpk |
A |
G |
7: 19,084,125 (GRCm38) |
D44G |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,892,960 (GRCm38) |
N223K |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,628,830 (GRCm38) |
M1392K |
probably benign |
Het |
| Edrf1 |
C |
T |
7: 133,660,179 (GRCm38) |
A867V |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,477,678 (GRCm38) |
C94S |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,938,726 (GRCm38) |
S373N |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,448,833 (GRCm38) |
D284G |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,601,302 (GRCm38) |
R29S |
possibly damaging |
Het |
| Gm13991 |
T |
C |
2: 116,528,184 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6818 |
A |
T |
7: 38,402,047 (GRCm38) |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 110,609,701 (GRCm38) |
C5037S |
probably benign |
Het |
| Ikzf1 |
T |
A |
11: 11,769,448 (GRCm38) |
M492K |
probably damaging |
Het |
| Krt20 |
G |
T |
11: 99,430,053 (GRCm38) |
S394R |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,745,787 (GRCm38) |
R107S |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,172,537 (GRCm38) |
T436A |
possibly damaging |
Het |
| Muc19 |
T |
A |
15: 91,900,420 (GRCm38) |
|
noncoding transcript |
Het |
| Neu4 |
T |
C |
1: 94,024,455 (GRCm38) |
V182A |
probably damaging |
Het |
| Notch2 |
T |
G |
3: 98,124,310 (GRCm38) |
F1167V |
possibly damaging |
Het |
| Nrap |
A |
G |
19: 56,371,845 (GRCm38) |
M189T |
possibly damaging |
Het |
| Nt5m |
A |
T |
11: 59,874,661 (GRCm38) |
I172F |
probably damaging |
Het |
| Or5b118 |
G |
T |
19: 13,471,673 (GRCm38) |
K234N |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,737,775 (GRCm38) |
P183L |
possibly damaging |
Het |
| Or8k41 |
A |
T |
2: 86,483,018 (GRCm38) |
C241* |
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,426,528 (GRCm38) |
T68M |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,244,602 (GRCm38) |
|
probably null |
Het |
| Ppp1r37 |
T |
C |
7: 19,561,975 (GRCm38) |
|
probably benign |
Het |
| Rfx4 |
T |
C |
10: 84,868,354 (GRCm38) |
Y238H |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,593,424 (GRCm38) |
|
probably null |
Het |
| Sec13 |
G |
A |
6: 113,730,876 (GRCm38) |
A161V |
probably benign |
Het |
| Serhl |
G |
A |
15: 83,102,694 (GRCm38) |
|
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,472,779 (GRCm38) |
V588A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 73,049,259 (GRCm38) |
T727A |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,673,683 (GRCm38) |
D241E |
probably damaging |
Het |
| Spata2 |
G |
T |
2: 167,483,574 (GRCm38) |
H442N |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,428,087 (GRCm38) |
V2588A |
probably damaging |
Het |
| Tnfsf12 |
A |
G |
11: 69,687,329 (GRCm38) |
S141P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,390,694 (GRCm38) |
I2166M |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 36,877,056 (GRCm38) |
V388E |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,550 (GRCm38) |
T30K |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 108,995,600 (GRCm38) |
V828A |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 86,164,228 (GRCm38) |
L455F |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 78,984,226 (GRCm38) |
S541T |
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 |
|
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 |
|
R5656:Clca3a2
|
UTSW |
3 |
144,797,632 (GRCm38) |
missense |
probably benign |
0.26 |
|
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'- GATACAGGCTCCCATTACCTGC -3'
(R):5'- ACAGTTGTTTACCATGCGTAAGG -3'
Sequencing Primer
(F):5'- ACCTGCCCCATTGTCCCATAG -3'
(R):5'- GTAAGGCGTGAGTTCCATATTCACC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation