Incidental Mutation 'IGL02003:Prok1'
ID 182191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prok1
Ensembl Gene ENSMUSG00000070368
Gene Name prokineticin 1
Synonyms EG-VEGF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02003
Quality Score
Status
Chromosome 3
Chromosomal Location 107140113-107147023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107142979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 75 (H75P)
Ref Sequence ENSEMBL: ENSMUSP00000060617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049852] [ENSMUST00000179399] [ENSMUST00000197758]
AlphaFold Q14A28
Predicted Effect probably damaging
Transcript: ENSMUST00000049852
AA Change: H75P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060617
Gene: ENSMUSG00000070368
AA Change: H75P

DomainStartEndE-ValueType
Pfam:Prokineticin 1 97 2.7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179399
Predicted Effect probably damaging
Transcript: ENSMUST00000197758
AA Change: H59P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143197
Gene: ENSMUSG00000070368
AA Change: H59P

DomainStartEndE-ValueType
Pfam:Prokineticin 1 81 1.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198732
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,736,392 (GRCm39) noncoding transcript Het
Adam1b G A 5: 121,639,354 (GRCm39) L564F probably damaging Het
Alms1 C T 6: 85,599,205 (GRCm39) P1344S possibly damaging Het
Cnnm2 G T 19: 46,856,998 (GRCm39) G699W probably damaging Het
Crybg2 A G 4: 133,799,767 (GRCm39) K309R probably benign Het
Csnk2a1 C T 2: 152,118,890 (GRCm39) R333* probably null Het
Eif3m C T 2: 104,843,188 (GRCm39) probably benign Het
Fgfr2 T C 7: 129,820,802 (GRCm39) D244G probably damaging Het
H2-Q10 A G 17: 35,781,338 (GRCm39) I47V probably benign Het
Hmcn2 C T 2: 31,318,994 (GRCm39) T3898I possibly damaging Het
Isyna1 G A 8: 71,049,407 (GRCm39) V440M possibly damaging Het
Itpr3 A G 17: 27,340,449 (GRCm39) K2654E probably damaging Het
Lrrd1 C T 5: 3,899,857 (GRCm39) T54I probably damaging Het
Lrrk2 G A 15: 91,615,694 (GRCm39) V843M probably damaging Het
Morc2b A T 17: 33,357,298 (GRCm39) V158D probably benign Het
Mroh7 T C 4: 106,559,726 (GRCm39) T734A probably damaging Het
Mylk3 T C 8: 86,085,727 (GRCm39) D136G probably benign Het
Nos1 T C 5: 118,043,530 (GRCm39) S602P probably damaging Het
Nsmaf T C 4: 6,418,522 (GRCm39) I428V probably benign Het
Nup93 T G 8: 95,028,737 (GRCm39) Y323* probably null Het
Or5ac21 G A 16: 59,123,996 (GRCm39) G161D probably damaging Het
Or7g21 A T 9: 19,032,361 (GRCm39) M34L probably benign Het
Or8b50 C T 9: 38,518,136 (GRCm39) A125V probably damaging Het
Ppm1m C A 9: 106,076,356 (GRCm39) G13W probably damaging Het
Ptprb A T 10: 116,203,410 (GRCm39) I1774F probably damaging Het
Rasl10b A T 11: 83,308,679 (GRCm39) E73V probably damaging Het
Rhbdl3 A G 11: 80,228,342 (GRCm39) T271A possibly damaging Het
Serpina3a A G 12: 104,082,259 (GRCm39) M11V probably benign Het
Setdb2 T C 14: 59,650,939 (GRCm39) E464G probably damaging Het
Slc8a1 A G 17: 81,735,625 (GRCm39) I749T possibly damaging Het
Slco6d1 T A 1: 98,408,493 (GRCm39) I463N probably damaging Het
Sncb A T 13: 54,910,743 (GRCm39) V51E probably damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tet1 A G 10: 62,652,179 (GRCm39) V1613A possibly damaging Het
Vmn2r91 T A 17: 18,327,921 (GRCm39) I505K probably benign Het
Zfp110 A T 7: 12,583,832 (GRCm39) K827* probably null Het
Zfp438 A T 18: 5,214,503 (GRCm39) C152S probably benign Het
Other mutations in Prok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02835:Prok1 UTSW 3 107,144,531 (GRCm39) critical splice acceptor site probably null
R5289:Prok1 UTSW 3 107,146,935 (GRCm39) missense probably benign 0.02
R5433:Prok1 UTSW 3 107,146,949 (GRCm39) missense probably benign 0.01
R7188:Prok1 UTSW 3 107,146,941 (GRCm39) missense probably benign 0.00
R8048:Prok1 UTSW 3 107,144,408 (GRCm39) missense probably benign 0.05
R8401:Prok1 UTSW 3 107,144,513 (GRCm39) missense probably benign 0.02
X0027:Prok1 UTSW 3 107,142,970 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07