Incidental Mutation 'R6352:Slc14a2'
ID 513309
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 044504-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 78189363-78640157 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 78252309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000025434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025434] [ENSMUST00000163367]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025434
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: M1V

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000126416
Gene: ENSMUSG00000024552

DomainStartEndE-ValueType
Pfam:UT 1 292 3.4e-113 PFAM
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gbp8 T C 5: 105,162,926 (GRCm39) I489M possibly damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Hdgfl1 T G 13: 26,953,733 (GRCm39) E113D probably benign Het
Heatr5a A T 12: 51,997,949 (GRCm39) S317T possibly damaging Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mboat1 G A 13: 30,386,403 (GRCm39) G139E possibly damaging Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Ptprd A T 4: 76,009,789 (GRCm39) probably null Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Syde2 G T 3: 145,704,229 (GRCm39) E127* probably null Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Wdr74 T C 19: 8,716,822 (GRCm39) V200A possibly damaging Het
Other mutations in Slc14a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCTTCCGGCATTTCCAGCAG -3'
(R):5'- TATAGGCACATGAAGTCCCACC -3'

Sequencing Primer
(F):5'- GCATTTCCAGCAGGGGAAG -3'
(R):5'- GGTAGAGCATTTCACTAGCATCC -3'
Posted On 2018-04-27