Incidental Mutation 'R4016:Umod'
ID 311941
Institutional Source Beutler Lab
Gene Symbol Umod
Ensembl Gene ENSMUSG00000030963
Gene Name uromodulin
Synonyms Tamm-Horsfall glycoprotein, uromucoid, Urehd1, urehr4
MMRRC Submission 040847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4016 (G1)
Quality Score 155
Status Validated
Chromosome 7
Chromosomal Location 119061931-119078485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119075913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 284 (N284K)
Ref Sequence ENSEMBL: ENSMUSP00000146652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033263] [ENSMUST00000207261] [ENSMUST00000207460] [ENSMUST00000209095]
AlphaFold Q91X17
Predicted Effect possibly damaging
Transcript: ENSMUST00000033263
AA Change: N284K

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033263
Gene: ENSMUSG00000030963
AA Change: N284K

DomainStartEndE-ValueType
EGF 31 64 4.03e-1 SMART
EGF_CA 65 106 3.81e-11 SMART
EGF_CA 107 155 4.81e-8 SMART
Blast:ZP 256 325 6e-30 BLAST
ZP 335 586 2.19e-70 SMART
low complexity region 619 634 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207261
Predicted Effect probably benign
Transcript: ENSMUST00000207378
Predicted Effect probably benign
Transcript: ENSMUST00000207460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208401
Predicted Effect possibly damaging
Transcript: ENSMUST00000209095
AA Change: N284K

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: This gene encodes a glycoprotein that is the most abundant protein in mammalian urine under physiological conditions. It is synthesized in the kidney as a glycosyl-phosphatidylinositol anchored protein and released into urine as a soluble form by proteolytic cleavage. It is thought to regulate water and salt balance in the thick ascending limb of Henle and to protect against urinary tract infection and calcium oxalate crystal formation. In mouse deficiency of this gene is associated with increased susceptibility to bacterial infections and formation of calcium crystals in kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene causes renal dysfunction and increased susceptibility to bladder infection, and may lead to renal calcinosis and stone formation. Homozygotes for an ENU-induced allele exhibit renal dysfunction and alterations in ureahandling, energy, bone, and lipid metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 G A 10: 21,271,470 (GRCm39) V399I probably benign Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Arpc5 G A 1: 152,644,607 (GRCm39) probably benign Het
Capn11 T A 17: 45,964,682 (GRCm39) D45V probably damaging Het
Dctpp1 G A 7: 126,856,285 (GRCm39) R146C probably damaging Het
Dlat C T 9: 50,560,931 (GRCm39) probably null Het
Dock10 T A 1: 80,584,286 (GRCm39) D140V probably damaging Het
Dtx3 A G 10: 127,027,040 (GRCm39) V378A probably benign Het
Ezh2 A G 6: 47,521,516 (GRCm39) I414T probably benign Het
Gm1979 C T 5: 26,209,604 (GRCm39) W41* probably null Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Map3k21 T A 8: 126,637,924 (GRCm39) I170N probably damaging Het
Mrgpra6 C A 7: 46,838,463 (GRCm39) C245F possibly damaging Het
Nipal2 T G 15: 34,600,207 (GRCm39) K203N possibly damaging Het
Nlrp1b A G 11: 71,063,911 (GRCm39) F621S probably damaging Het
Nos3 G A 5: 24,576,714 (GRCm39) V448M probably damaging Het
Ntrk3 G T 7: 78,112,695 (GRCm39) probably benign Het
Or5b118 A T 19: 13,448,561 (GRCm39) T76S possibly damaging Het
P2rx1 T C 11: 72,900,799 (GRCm39) C190R probably damaging Het
Pdzrn4 T A 15: 92,297,630 (GRCm39) D198E probably benign Het
Ptar1 A G 19: 23,664,824 (GRCm39) M1V probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Purg T A 8: 33,877,019 (GRCm39) L219* probably null Het
Rbp3 G T 14: 33,677,347 (GRCm39) V432L possibly damaging Het
Scnn1b G T 7: 121,513,555 (GRCm39) probably null Het
Sgms1 A G 19: 32,120,192 (GRCm39) V238A possibly damaging Het
Slc16a14 G T 1: 84,890,228 (GRCm39) S359* probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Spatc1l A G 10: 76,398,323 (GRCm39) S42G probably benign Het
Stra6 T A 9: 58,042,473 (GRCm39) V34E probably damaging Het
Tex14 A G 11: 87,429,449 (GRCm39) probably null Het
Tox4 T C 14: 52,523,361 (GRCm39) probably null Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Uggt2 T C 14: 119,263,845 (GRCm39) N1062D possibly damaging Het
Unc93b1 T C 19: 3,993,572 (GRCm39) I338T probably damaging Het
Vmn2r99 C T 17: 19,598,832 (GRCm39) T172I possibly damaging Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Other mutations in Umod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Umod APN 7 119,076,442 (GRCm39) missense possibly damaging 0.93
IGL02527:Umod APN 7 119,068,690 (GRCm39) missense probably damaging 1.00
R0265:Umod UTSW 7 119,065,296 (GRCm39) missense probably benign 0.00
R1073:Umod UTSW 7 119,063,964 (GRCm39) missense possibly damaging 0.56
R1117:Umod UTSW 7 119,076,529 (GRCm39) missense possibly damaging 0.71
R1515:Umod UTSW 7 119,064,720 (GRCm39) missense probably benign 0.00
R1774:Umod UTSW 7 119,076,574 (GRCm39) missense possibly damaging 0.82
R1803:Umod UTSW 7 119,063,947 (GRCm39) missense probably damaging 0.96
R1864:Umod UTSW 7 119,062,478 (GRCm39) missense probably damaging 0.99
R1942:Umod UTSW 7 119,076,155 (GRCm39) missense probably damaging 1.00
R2060:Umod UTSW 7 119,075,938 (GRCm39) missense probably damaging 0.97
R2354:Umod UTSW 7 119,065,416 (GRCm39) missense probably damaging 1.00
R3015:Umod UTSW 7 119,071,763 (GRCm39) missense probably damaging 1.00
R3030:Umod UTSW 7 119,076,062 (GRCm39) missense probably benign 0.02
R4406:Umod UTSW 7 119,065,287 (GRCm39) missense probably damaging 1.00
R4446:Umod UTSW 7 119,065,279 (GRCm39) splice site probably null
R5062:Umod UTSW 7 119,071,644 (GRCm39) nonsense probably null
R5358:Umod UTSW 7 119,071,577 (GRCm39) missense probably damaging 1.00
R5935:Umod UTSW 7 119,070,650 (GRCm39) missense probably damaging 1.00
R6045:Umod UTSW 7 119,076,046 (GRCm39) missense probably benign
R6239:Umod UTSW 7 119,076,520 (GRCm39) missense probably damaging 1.00
R7111:Umod UTSW 7 119,076,369 (GRCm39) nonsense probably null
R7168:Umod UTSW 7 119,077,549 (GRCm39) splice site probably benign
R7265:Umod UTSW 7 119,065,296 (GRCm39) missense probably benign 0.00
R7273:Umod UTSW 7 119,076,250 (GRCm39) missense probably benign 0.16
R8749:Umod UTSW 7 119,070,639 (GRCm39) missense probably benign 0.00
R8786:Umod UTSW 7 119,076,581 (GRCm39) missense possibly damaging 0.76
R8939:Umod UTSW 7 119,068,700 (GRCm39) missense probably damaging 1.00
R9320:Umod UTSW 7 119,065,355 (GRCm39) missense probably damaging 1.00
R9689:Umod UTSW 7 119,076,517 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GCCGTTATCCGATATGCAATC -3'
(R):5'- AGAGTATGGTGTGGGCTACTCC -3'

Sequencing Primer
(F):5'- GATATGCAATCTTCATCTACCCTG -3'
(R):5'- TTCGCATGGCTGAGACCTG -3'
Posted On 2015-04-29