Incidental Mutation 'R4373:Slc14a2'
ID 326088
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 041675-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4373 (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 78250283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 62 (R62C)
Ref Sequence ENSEMBL: ENSMUSP00000025434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025434] [ENSMUST00000163367]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025434
AA Change: R62C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552
AA Change: R62C

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably 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
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
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'- GACACTCACCTTTCAGCCAG -3'
(R):5'- TGTCCCCAAATGTCCCTATCAAG -3'

Sequencing Primer
(F):5'- AGCCAGTTCTTGCATTCCTTCATG -3'
(R):5'- CAAGTACTTATAATCCCAGCAGATG -3'
Posted On 2015-07-06