Incidental Mutation 'R4440:Slc14a2'
| ID |
329742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc14a2
|
| Ensembl Gene |
ENSMUSG00000024552 |
| Gene Name |
solute carrier family 14 (urea transporter), member 2 |
| Synonyms |
UT-A5, UT-A3 |
| MMRRC Submission |
041705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
78189363-78640157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78238962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 219
(V219A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025434]
[ENSMUST00000163367]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025434
AA Change: V219A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: V219A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
97 |
N/A |
INTRINSIC |
|
Pfam:UT
|
128 |
423 |
1.9e-105 |
PFAM |
|
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
|
Pfam:UT
|
591 |
886 |
7.5e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163367
AA Change: V81A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000126416
Gene: ENSMUSG00000024552
AA Change: V81A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UT
|
1 |
292 |
3.4e-113 |
PFAM |
|
| Meta Mutation Damage Score |
0.2928 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (46/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mice lacking the collecting duct specific isoforms display decreased urea permeability and urine osmolality and increased urine flow. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
G |
T |
2: 168,026,721 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,786,566 (GRCm39) |
G508C |
probably damaging |
Het |
| Armc8 |
T |
A |
9: 99,366,087 (GRCm39) |
H609L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
| Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
| C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
| Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
| Dpysl5 |
T |
C |
5: 30,949,612 (GRCm39) |
F461L |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
| Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
| Klhl8 |
A |
G |
5: 104,015,433 (GRCm39) |
I421T |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
| Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
A |
T |
2: 61,635,182 (GRCm39) |
D44V |
possibly damaging |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
Het |
|
| Other mutations in Slc14a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Slc14a2
|
APN |
18 |
78,193,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL00763:Slc14a2
|
APN |
18 |
78,235,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01359:Slc14a2
|
APN |
18 |
78,197,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01400:Slc14a2
|
APN |
18 |
78,235,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01450:Slc14a2
|
APN |
18 |
78,226,745 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01469:Slc14a2
|
APN |
18 |
78,198,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02231:Slc14a2
|
APN |
18 |
78,252,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02340:Slc14a2
|
APN |
18 |
78,206,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02542:Slc14a2
|
APN |
18 |
78,252,302 (GRCm39) |
missense |
probably benign |
|
|
xi_ning
|
UTSW |
18 |
78,238,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02991:Slc14a2
|
UTSW |
18 |
78,249,049 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R0131:Slc14a2
|
UTSW |
18 |
78,235,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Slc14a2
|
UTSW |
18 |
78,235,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Slc14a2
|
UTSW |
18 |
78,235,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Slc14a2
|
UTSW |
18 |
78,200,394 (GRCm39) |
nonsense |
probably null |
|
|
R1677:Slc14a2
|
UTSW |
18 |
78,206,419 (GRCm39) |
missense |
probably benign |
|
|
R1749:Slc14a2
|
UTSW |
18 |
78,190,295 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2014:Slc14a2
|
UTSW |
18 |
78,193,601 (GRCm39) |
splice site |
probably benign |
|
|
R2034:Slc14a2
|
UTSW |
18 |
78,226,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2264:Slc14a2
|
UTSW |
18 |
78,206,304 (GRCm39) |
splice site |
probably benign |
|
|
R2278:Slc14a2
|
UTSW |
18 |
78,203,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2920:Slc14a2
|
UTSW |
18 |
78,201,512 (GRCm39) |
nonsense |
probably null |
|
|
R3878:Slc14a2
|
UTSW |
18 |
78,202,289 (GRCm39) |
missense |
probably benign |
|
|
R4086:Slc14a2
|
UTSW |
18 |
78,248,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4237:Slc14a2
|
UTSW |
18 |
78,250,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4238:Slc14a2
|
UTSW |
18 |
78,250,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Slc14a2
|
UTSW |
18 |
78,250,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4300:Slc14a2
|
UTSW |
18 |
78,250,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Slc14a2
|
UTSW |
18 |
78,250,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4375:Slc14a2
|
UTSW |
18 |
78,250,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4376:Slc14a2
|
UTSW |
18 |
78,250,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Slc14a2
|
UTSW |
18 |
78,239,068 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4636:Slc14a2
|
UTSW |
18 |
78,239,007 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4749:Slc14a2
|
UTSW |
18 |
78,198,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Slc14a2
|
UTSW |
18 |
78,235,403 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4983:Slc14a2
|
UTSW |
18 |
78,193,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5114:Slc14a2
|
UTSW |
18 |
78,238,963 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5164:Slc14a2
|
UTSW |
18 |
78,200,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Slc14a2
|
UTSW |
18 |
78,229,055 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5433:Slc14a2
|
UTSW |
18 |
78,252,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Slc14a2
|
UTSW |
18 |
78,202,381 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5571:Slc14a2
|
UTSW |
18 |
78,252,282 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5693:Slc14a2
|
UTSW |
18 |
78,190,229 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5715:Slc14a2
|
UTSW |
18 |
78,201,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Slc14a2
|
UTSW |
18 |
78,252,257 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6160:Slc14a2
|
UTSW |
18 |
78,202,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6352:Slc14a2
|
UTSW |
18 |
78,252,309 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6380:Slc14a2
|
UTSW |
18 |
78,190,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6444:Slc14a2
|
UTSW |
18 |
78,197,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6480:Slc14a2
|
UTSW |
18 |
78,202,297 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6732:Slc14a2
|
UTSW |
18 |
78,235,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Slc14a2
|
UTSW |
18 |
78,202,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7553:Slc14a2
|
UTSW |
18 |
78,198,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7558:Slc14a2
|
UTSW |
18 |
78,235,334 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7617:Slc14a2
|
UTSW |
18 |
78,203,156 (GRCm39) |
missense |
probably benign |
|
|
R7693:Slc14a2
|
UTSW |
18 |
78,197,218 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7874:Slc14a2
|
UTSW |
18 |
78,203,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8144:Slc14a2
|
UTSW |
18 |
78,227,759 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9205:Slc14a2
|
UTSW |
18 |
78,238,951 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9356:Slc14a2
|
UTSW |
18 |
78,227,823 (GRCm39) |
missense |
probably null |
0.02 |
|
Z1088:Slc14a2
|
UTSW |
18 |
78,238,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc14a2
|
UTSW |
18 |
78,200,584 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1176:Slc14a2
|
UTSW |
18 |
78,200,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCAACAGATCTCTGGTAATCC -3'
(R):5'- GGGGAGTTCCTCACTTTTCATC -3'
Sequencing Primer
(F):5'- TCAACAGATCTCTGGTAATCCATATC -3'
(R):5'- GGTTAATGCAAAATAACTTCTACC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation