Incidental Mutation 'R4120:Clca3a2'
| ID |
315261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca3a2
|
| Ensembl Gene |
ENSMUSG00000028262 |
| Gene Name |
chloride channel accessory 3A2 |
| Synonyms |
Clca2 |
| MMRRC Submission |
040993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4120 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
144796559-144819494 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144810852 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 328
(M328V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029929]
|
| AlphaFold |
Q9EQR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029929
AA Change: M328V
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: M328V
| 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 |
noncoding transcript
Transcript: ENSMUST00000198543
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (55/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,094,307 (GRCm38) |
E1233* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,739,172 (GRCm38) |
D526G |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,496,807 (GRCm38) |
Y807H |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,714,484 (GRCm38) |
|
probably null |
Het |
| Arhgap40 |
A |
G |
2: 158,532,330 (GRCm38) |
M222V |
probably benign |
Het |
| Asnsd1 |
A |
G |
1: 53,347,995 (GRCm38) |
S158P |
probably damaging |
Het |
| C130026I21Rik |
C |
T |
1: 85,259,821 (GRCm38) |
V81M |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 122,863,423 (GRCm38) |
V365A |
probably damaging |
Het |
| Col4a1 |
G |
A |
8: 11,206,263 (GRCm38) |
P1535S |
unknown |
Het |
| Dennd2a |
G |
A |
6: 39,465,096 (GRCm38) |
R947C |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 91,965,638 (GRCm38) |
V217I |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,198,038 (GRCm38) |
D83G |
possibly damaging |
Het |
| Dppa5a |
A |
T |
9: 78,367,855 (GRCm38) |
M55K |
possibly damaging |
Het |
| Ect2l |
A |
G |
10: 18,130,718 (GRCm38) |
V779A |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,763,184 (GRCm38) |
S353P |
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,536,282 (GRCm38) |
D391G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,707,310 (GRCm38) |
K309N |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,588,191 (GRCm38) |
Y375N |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,786,129 (GRCm38) |
S308P |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,825,626 (GRCm38) |
Y1065C |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 70,966,275 (GRCm38) |
D31G |
probably damaging |
Het |
| Gm17175 |
A |
T |
14: 51,573,077 (GRCm38) |
I31N |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 33,165,551 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9951 |
T |
C |
8: 34,055,839 (GRCm38) |
|
noncoding transcript |
Het |
| Hspa2 |
A |
G |
12: 76,405,234 (GRCm38) |
E234G |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,805,648 (GRCm38) |
R319Q |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,662,602 (GRCm38) |
Y1065* |
probably null |
Het |
| Ltk |
T |
A |
2: 119,757,948 (GRCm38) |
|
probably benign |
Het |
| Map2 |
G |
A |
1: 66,415,904 (GRCm38) |
A1318T |
probably damaging |
Het |
| Mas1 |
A |
T |
17: 12,842,346 (GRCm38) |
N63K |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,873,492 (GRCm38) |
S1311P |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,903,744 (GRCm38) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,242,533 (GRCm38) |
|
noncoding transcript |
Het |
| Oca2 |
A |
T |
7: 56,254,882 (GRCm38) |
D32V |
probably damaging |
Het |
| Olfr624 |
T |
C |
7: 103,671,014 (GRCm38) |
T6A |
probably benign |
Het |
| Olfr877 |
T |
C |
9: 37,855,409 (GRCm38) |
L197S |
possibly damaging |
Het |
| Otub2 |
T |
C |
12: 103,404,230 (GRCm38) |
V257A |
probably damaging |
Het |
| Pink1 |
G |
A |
4: 138,315,511 (GRCm38) |
R461* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,780,627 (GRCm38) |
C901R |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,830,746 (GRCm38) |
N148K |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,640,644 (GRCm38) |
R2019Q |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 105,618,857 (GRCm38) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,734,676 (GRCm38) |
N107S |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 57,899,355 (GRCm38) |
M376V |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 120,064,529 (GRCm38) |
D798V |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 58,980,009 (GRCm38) |
Y30N |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,409,798 (GRCm38) |
Q328L |
probably damaging |
Het |
| Ttc23l |
A |
C |
15: 10,539,920 (GRCm38) |
V159G |
probably damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,531,953 (GRCm38) |
S753P |
probably damaging |
Het |
| Vmn2r39 |
G |
A |
7: 9,023,674 (GRCm38) |
H443Y |
probably benign |
Het |
| Vmn2r-ps159 |
G |
T |
4: 156,334,483 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp936 |
A |
G |
7: 43,190,206 (GRCm38) |
T366A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,393,949 (GRCm38) |
E256G |
possibly damaging |
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 |
|
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 |
|
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'- CATGGCAAATTGAAGTTCCACC -3'
(R):5'- GCATAGACTTTGAAGGTTGTCAGAAC -3'
Sequencing Primer
(F):5'- ATTGAAGTTCCACCAGTAGCCTG -3'
(R):5'- TGAAGGTTGTCAGAACTATAACAAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation