Incidental Mutation 'R6160:Slc14a2'
ID 489845
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 044307-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6160 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 78189363-78640157 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 78202190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025434]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025434
SMART Domains Protein: ENSMUSP00000025434
Gene: ENSMUSG00000024552

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 94% (62/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,642,950 (GRCm39) S297R possibly damaging Het
5530400C23Rik A G 6: 133,271,289 (GRCm39) E111G possibly damaging Het
8030423J24Rik T A 13: 71,032,029 (GRCm39) S34T unknown Het
Ace3 T A 11: 105,885,558 (GRCm39) W20R possibly damaging Het
Adgrf1 A G 17: 43,621,578 (GRCm39) E605G probably damaging Het
Arhgap44 G A 11: 65,053,375 (GRCm39) probably benign Het
Atm A C 9: 53,402,259 (GRCm39) H1404Q probably benign Het
AW209491 A G 13: 14,811,306 (GRCm39) E53G probably damaging Het
Bhmt1b G A 18: 87,775,245 (GRCm39) C256Y probably damaging Het
Cdt1 C T 8: 123,298,107 (GRCm39) T366I probably benign Het
Cerk A T 15: 86,026,974 (GRCm39) C179S probably benign Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Clip1 T C 5: 123,751,604 (GRCm39) K726E possibly damaging Het
Dcaf12 A T 4: 41,294,043 (GRCm39) Y365N probably damaging Het
Dennd6b A G 15: 89,073,024 (GRCm39) L171P probably damaging Het
Dip2c G A 13: 9,583,290 (GRCm39) V91I probably benign Het
Dlec1 A G 9: 118,972,387 (GRCm39) I1431V probably benign Het
Egln1 T C 8: 125,675,231 (GRCm39) D188G probably damaging Het
Enpp5 T A 17: 44,392,259 (GRCm39) N229K possibly damaging Het
Fmo1 T G 1: 162,663,867 (GRCm39) I221L probably benign Het
Fsip2 G A 2: 82,818,289 (GRCm39) W4674* probably null Het
Gm12185 G A 11: 48,799,255 (GRCm39) Q413* probably null Het
Gm7298 A T 6: 121,741,886 (GRCm39) H436L probably benign Het
Gucy2c G A 6: 136,717,684 (GRCm39) Q430* probably null Het
Hgd A G 16: 37,433,660 (GRCm39) H134R probably damaging Het
Hoxd8 A G 2: 74,536,343 (GRCm39) E151G probably damaging Het
Il15ra A G 2: 11,724,827 (GRCm39) D99G probably damaging Het
Ints4 T A 7: 97,158,790 (GRCm39) probably null Het
Itgb1 T A 8: 129,446,764 (GRCm39) F426L possibly damaging Het
Itpr1 A C 6: 108,495,716 (GRCm39) I2534L probably benign Het
Kcnq4 T A 4: 120,573,756 (GRCm39) H235L probably damaging Het
Kcnt1 T A 2: 25,782,395 (GRCm39) I178N probably damaging Het
Kidins220 A G 12: 25,047,310 (GRCm39) D252G probably damaging Het
Krt23 A G 11: 99,376,544 (GRCm39) I204T probably damaging Het
Lipo4 A G 19: 33,480,693 (GRCm39) L225P probably damaging Het
Lrp3 T C 7: 34,903,548 (GRCm39) D245G possibly damaging Het
Mmp16 A G 4: 18,051,857 (GRCm39) D282G probably damaging Het
Myo1c A T 11: 75,541,568 (GRCm39) H18L probably benign Het
Myo1f C A 17: 33,823,318 (GRCm39) P981Q probably benign Het
Nle1 A T 11: 82,798,983 (GRCm39) F33I probably benign Het
Nlrp4e T G 7: 23,020,731 (GRCm39) M406R probably damaging Het
Obscn A T 11: 58,942,611 (GRCm39) V4857E probably damaging Het
Palb2 A T 7: 121,727,643 (GRCm39) probably null Het
Phospho1 A T 11: 95,721,450 (GRCm39) E22V probably damaging Het
Pom121l2 C T 13: 22,167,838 (GRCm39) S703L possibly damaging Het
Prex2 T C 1: 11,064,075 (GRCm39) L20P probably damaging Het
Psmb7 T C 2: 38,533,393 (GRCm39) T45A probably damaging Het
R3hdm2 T C 10: 127,320,376 (GRCm39) I532T probably damaging Het
Rcn1 T C 2: 105,222,362 (GRCm39) D208G probably damaging Het
Recql5 A G 11: 115,823,613 (GRCm39) probably null Het
Resf1 G A 6: 149,233,005 (GRCm39) probably null Het
Rfc4 A T 16: 22,933,433 (GRCm39) I242N probably damaging Het
Rims1 T C 1: 22,503,235 (GRCm39) Y650C probably damaging Het
Shc2 C T 10: 79,462,853 (GRCm39) probably null Het
Slc6a6 A T 6: 91,716,995 (GRCm39) probably null Het
Synj2 C A 17: 6,058,336 (GRCm39) H275N possibly damaging Het
T A T 17: 8,660,618 (GRCm39) T410S probably benign Het
Tars3 A G 7: 65,332,527 (GRCm39) I543V probably benign Het
Tbc1d8 T A 1: 39,411,484 (GRCm39) K1117N probably damaging Het
Tm7sf3 A T 6: 146,507,787 (GRCm39) L425* probably null Het
Trav14-3 A G 14: 54,000,978 (GRCm39) Y63C probably damaging Het
Tyro3 A C 2: 119,633,751 (GRCm39) D133A probably damaging Het
Vmn1r119 T G 7: 20,745,740 (GRCm39) H214P possibly damaging Het
Vmn2r120 G A 17: 57,816,418 (GRCm39) P646S probably benign Het
Zbtb7c A T 18: 76,278,904 (GRCm39) Y454F probably benign Het
Zmym2 T C 14: 57,187,766 (GRCm39) L1144P 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
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
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'- GCCATCTCCAAATCAGGGTAC -3'
(R):5'- CAGTTTCTTGACTGGGTGCTCC -3'

Sequencing Primer
(F):5'- GCCTGCAAGACAGTATTCTGCTAG -3'
(R):5'- TCCGGGGCATGTCTCAG -3'
Posted On 2017-10-10