Incidental Mutation 'R2353:Uts2'
ID 246247
Institutional Source Beutler Lab
Gene Symbol Uts2
Ensembl Gene ENSMUSG00000028963
Gene Name urotensin 2
Synonyms urotensin II precursor, prepro-UII, Ucn2
MMRRC Submission 040335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2353 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 151081554-151086267 bp(+) (GRCm39)
Type of Mutation splice site (62540 bp from exon)
DNA Base Change (assembly) T to A at 151084593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030803] [ENSMUST00000103204] [ENSMUST00000169423]
AlphaFold Q9QZQ3
Predicted Effect probably benign
Transcript: ENSMUST00000030803
SMART Domains Protein: ENSMUSP00000030803
Gene: ENSMUSG00000028963

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 36 53 N/A INTRINSIC
Pfam:Urotensin_II 112 123 3.9e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103204
SMART Domains Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957

DomainStartEndE-ValueType
PAS 115 187 2.86e1 SMART
PAS 258 324 1.31e-5 SMART
PAC 333 376 1.52e-1 SMART
low complexity region 414 427 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
low complexity region 799 814 N/A INTRINSIC
low complexity region 845 860 N/A INTRINSIC
Pfam:Period_C 905 1111 4.4e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138052
Predicted Effect probably null
Transcript: ENSMUST00000169423
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

DomainStartEndE-ValueType
CG-1 67 183 1.39e-91 SMART
low complexity region 550 583 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Pfam:TIG 874 954 3.1e-11 PFAM
low complexity region 997 1030 N/A INTRINSIC
ANK 1066 1095 1.7e2 SMART
ANK 1111 1141 4.73e2 SMART
low complexity region 1301 1319 N/A INTRINSIC
IQ 1548 1564 2.38e2 SMART
IQ 1578 1600 5.42e0 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: This gene encodes a member of the urotensin family of peptide hormones. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional hormone before secretion into the plasma. Mice lacking the encoded protein have a significantly decreased low density lipoprotein cholesterol profile and hepatic steatosis that is consistent with decreased hepatocyte de novo cholesterol synthesis and apolipoprotein B secretion. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in macrophage and hepatic cholesterol homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G T 4: 144,349,779 (GRCm39) E345D probably damaging Het
Adam7 T A 14: 68,742,537 (GRCm39) Q692L probably benign Het
Ankk1 A C 9: 49,329,990 (GRCm39) C322G probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Apeh T C 9: 107,963,491 (GRCm39) D577G possibly damaging Het
Aspm T A 1: 139,405,435 (GRCm39) W1441R probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cd163 G T 6: 124,296,115 (GRCm39) E820* probably null Het
Cd38 T A 5: 44,065,353 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Enpp1 C A 10: 24,527,239 (GRCm39) Q649H probably benign Het
Garnl3 T A 2: 32,954,046 (GRCm39) R86S probably damaging Het
Gbe1 A G 16: 70,233,909 (GRCm39) probably null Het
Gm5117 A G 8: 32,229,223 (GRCm39) noncoding transcript Het
Hip1 A T 5: 135,441,566 (GRCm39) V568E probably damaging Het
Hspa14 G A 2: 3,512,213 (GRCm39) probably null Het
Lrrc4 A G 6: 28,831,451 (GRCm39) F55L probably benign Het
Med31 T A 11: 72,104,966 (GRCm39) N35I probably damaging Het
Msi1 C A 5: 115,574,568 (GRCm39) probably benign Het
Or1e34 T C 11: 73,778,660 (GRCm39) I179M probably benign Het
Or4b1 A T 2: 89,980,062 (GRCm39) L96Q probably damaging Het
Parl T C 16: 20,105,790 (GRCm39) T211A probably benign Het
Ppwd1 T C 13: 104,350,090 (GRCm39) I432V probably benign Het
Scn10a T A 9: 119,467,753 (GRCm39) I796F probably damaging Het
Semp2l2a T A 8: 13,886,951 (GRCm39) E380V probably damaging Het
Sh3rf3 A G 10: 58,842,895 (GRCm39) D287G probably damaging Het
Sin3b T C 8: 73,450,780 (GRCm39) probably null Het
Ubr4 T C 4: 139,160,984 (GRCm39) I2493T possibly damaging Het
Zfp109 T C 7: 23,928,806 (GRCm39) D201G probably benign Het
Zfp407 A G 18: 84,578,005 (GRCm39) F1036S probably damaging Het
Znrf3 T C 11: 5,231,170 (GRCm39) E685G probably damaging Het
Other mutations in Uts2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5296:Uts2 UTSW 4 151,083,508 (GRCm39) missense possibly damaging 0.70
R5689:Uts2 UTSW 4 151,083,565 (GRCm39) missense possibly damaging 0.53
R5946:Uts2 UTSW 4 151,083,506 (GRCm39) missense probably benign 0.02
R8199:Uts2 UTSW 4 151,086,115 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- GGATCCCAGATTCTGTATGTTTTGC -3'
(R):5'- TACCCAGAGTAGGCATCTGTTAC -3'

Sequencing Primer
(F):5'- CAATAAGCATAACTGGCGGGTGTG -3'
(R):5'- CAGAGTAGGCATCTGTTACATTCTTG -3'
Posted On 2014-10-30