Incidental Mutation 'R5164:Slc14a2'
| ID |
395624 |
| 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 |
042745-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
78189363-78640157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78200487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 722
(A722V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025434]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025434
AA Change: A722V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: A722V
| 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 |
|
| Meta Mutation Damage Score |
0.4080 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (49/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,583,793 (GRCm39) |
H4637Q |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,189,249 (GRCm39) |
H2221R |
probably benign |
Het |
| Arsj |
A |
T |
3: 126,231,808 (GRCm39) |
M185L |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,805,336 (GRCm39) |
T313A |
unknown |
Het |
| Cdkal1 |
A |
T |
13: 29,809,702 (GRCm39) |
L214H |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,965,675 (GRCm39) |
K445R |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,160 (GRCm39) |
I299N |
probably damaging |
Het |
| Cse1l |
C |
A |
2: 166,786,348 (GRCm39) |
D826E |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,475,511 (GRCm39) |
V816A |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,408,438 (GRCm39) |
E3474D |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,055,110 (GRCm39) |
Y585* |
probably null |
Het |
| Ebf2 |
T |
C |
14: 67,627,970 (GRCm39) |
S322P |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,672,983 (GRCm39) |
E267G |
possibly damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,656,964 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,284,743 (GRCm39) |
K49* |
probably null |
Het |
| Gramd4 |
A |
T |
15: 85,985,032 (GRCm39) |
T98S |
probably benign |
Het |
| Hectd1 |
C |
A |
12: 51,874,272 (GRCm39) |
M1I |
probably null |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,952 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,574,597 (GRCm39) |
T315A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,692,044 (GRCm39) |
|
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,917,880 (GRCm39) |
V88E |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,640,147 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,759,011 (GRCm39) |
|
probably null |
Het |
| Nrdc |
C |
T |
4: 108,896,914 (GRCm39) |
T511I |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,462,346 (GRCm39) |
W506* |
probably null |
Het |
| Or4c106 |
T |
A |
2: 88,682,914 (GRCm39) |
L207I |
probably benign |
Het |
| Or5p6 |
G |
A |
7: 107,631,487 (GRCm39) |
T21I |
possibly damaging |
Het |
| Or8k24 |
T |
C |
2: 86,215,815 (GRCm39) |
T316A |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,799 (GRCm39) |
V301A |
probably damaging |
Het |
| Pnisr |
A |
T |
4: 21,859,237 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Pp2d1 |
G |
T |
17: 53,815,098 (GRCm39) |
T542K |
probably benign |
Het |
| Ppargc1b |
A |
T |
18: 61,435,715 (GRCm39) |
C922S |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,018,995 (GRCm39) |
|
probably null |
Het |
| Runx3 |
T |
C |
4: 134,848,441 (GRCm39) |
S9P |
possibly damaging |
Het |
| Serpina1b |
A |
G |
12: 103,698,346 (GRCm39) |
S168P |
probably benign |
Het |
| Slc23a2 |
T |
A |
2: 131,917,370 (GRCm39) |
|
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,243,886 (GRCm39) |
|
probably null |
Het |
| Tcf20 |
A |
G |
15: 82,740,804 (GRCm39) |
S216P |
probably damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,842 (GRCm39) |
I104N |
probably damaging |
Het |
| Ufm1 |
A |
C |
3: 53,765,348 (GRCm39) |
|
probably benign |
Het |
| Unkl |
A |
G |
17: 25,432,083 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,038,543 (GRCm39) |
S1008P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,237,677 (GRCm39) |
V6A |
possibly damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,648,875 (GRCm39) |
S752R |
probably benign |
Het |
| Zfp268 |
T |
C |
4: 145,348,775 (GRCm39) |
Y71H |
probably damaging |
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 |
|
R4440:Slc14a2
|
UTSW |
18 |
78,238,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TCTGTAGAACGCCTTGTGC -3'
(R):5'- GAAAGTAGGCTTGTCTGCTGC -3'
Sequencing Primer
(F):5'- GAACGCCTTGTGCCCTGTAATTG -3'
(R):5'- GCTTGTCTGCTGCCGTGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation