Incidental Mutation 'R5289:Prok1'
ID 424575
Institutional Source Beutler Lab
Gene Symbol Prok1
Ensembl Gene ENSMUSG00000070368
Gene Name prokineticin 1
Synonyms EG-VEGF
MMRRC Submission 042872-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5289 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107140113-107147023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 107146935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 11 (L11V)
Ref Sequence ENSEMBL: ENSMUSP00000060617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049852] [ENSMUST00000179399] [ENSMUST00000197758]
AlphaFold Q14A28
Predicted Effect probably benign
Transcript: ENSMUST00000049852
AA Change: L11V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000060617
Gene: ENSMUSG00000070368
AA Change: L11V

DomainStartEndE-ValueType
Pfam:Prokineticin 1 97 2.7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179399
Predicted Effect probably benign
Transcript: ENSMUST00000197758
SMART Domains Protein: ENSMUSP00000143197
Gene: ENSMUSG00000070368

DomainStartEndE-ValueType
Pfam:Prokineticin 1 81 1.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198732
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,669,203 (GRCm39) V1731A probably benign Het
Ahcyl1 A G 3: 107,577,206 (GRCm39) probably null Het
Aox1 T A 1: 58,131,717 (GRCm39) M1042K probably damaging Het
Atp10d C A 5: 72,412,466 (GRCm39) Q590K probably benign Het
Atp8b1 G T 18: 64,679,158 (GRCm39) N774K possibly damaging Het
Atrnl1 C T 19: 57,645,514 (GRCm39) T458M probably damaging Het
Bltp1 C A 3: 37,054,258 (GRCm39) Q3126K probably damaging Het
Cnr1 T A 4: 33,943,910 (GRCm39) C99* probably null Het
Cnr2 A G 4: 135,644,318 (GRCm39) Y132C probably damaging Het
Commd9 C T 2: 101,729,239 (GRCm39) A115V probably benign Het
Diaph3 A G 14: 87,219,114 (GRCm39) F426S probably damaging Het
Diras1 G A 10: 80,858,078 (GRCm39) Q58* probably null Het
Dnaaf6rt A T 1: 31,262,608 (GRCm39) I197F probably benign Het
Dpy19l2 A G 9: 24,607,293 (GRCm39) L56P probably benign Het
Dsc1 A T 18: 20,234,910 (GRCm39) V248D possibly damaging Het
Frem3 A G 8: 81,338,948 (GRCm39) M414V probably benign Het
Frmd4b G T 6: 97,279,309 (GRCm39) probably null Het
Gabarapl2 T C 8: 112,669,227 (GRCm39) W62R probably damaging Het
Glt1d1 A G 5: 127,721,420 (GRCm39) R36G probably benign Het
Grb10 T C 11: 11,894,924 (GRCm39) silent Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hc A G 2: 34,886,026 (GRCm39) probably null Het
Hgd A G 16: 37,448,913 (GRCm39) E379G possibly damaging Het
Ifi30 A T 8: 71,219,245 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,388,472 (GRCm39) I842V possibly damaging Het
Iqsec3 T A 6: 121,363,659 (GRCm39) probably null Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Lama2 C A 10: 27,088,069 (GRCm39) G903* probably null Het
Lrrc10 T C 10: 116,881,392 (GRCm39) V22A probably benign Het
Lzts3 T C 2: 130,478,021 (GRCm39) E245G probably benign Het
Man2a1 A G 17: 64,958,222 (GRCm39) T246A probably damaging Het
Mfsd13a A G 19: 46,356,719 (GRCm39) E240G probably benign Het
Mtor T C 4: 148,550,549 (GRCm39) I735T possibly damaging Het
Naa15 A T 3: 51,363,315 (GRCm39) H333L probably damaging Het
Nes C A 3: 87,885,725 (GRCm39) T1284K probably damaging Het
Nexn T G 3: 151,953,709 (GRCm39) H173P probably benign Het
Nid2 T C 14: 19,855,379 (GRCm39) V1173A possibly damaging Het
Npepps A G 11: 97,131,753 (GRCm39) probably null Het
Pgm1 T A 4: 99,824,266 (GRCm39) M313K probably damaging Het
Plag1 T A 4: 3,905,545 (GRCm39) K48N probably damaging Het
Ptpn9 T C 9: 56,967,347 (GRCm39) probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc38a4 A T 15: 96,908,229 (GRCm39) F171I possibly damaging Het
Sycp1 A T 3: 102,841,569 (GRCm39) N78K possibly damaging Het
Tas2r110 T C 6: 132,844,972 (GRCm39) M1T probably null Het
Thoc2l G A 5: 104,667,523 (GRCm39) V682I probably benign Het
Tmem260 G A 14: 48,724,267 (GRCm39) V182M possibly damaging Het
Tmem30a A T 9: 79,683,436 (GRCm39) N144K probably damaging Het
Vmn2r108 A G 17: 20,691,866 (GRCm39) L219P probably damaging Het
Vmn2r57 A G 7: 41,049,398 (GRCm39) S784P probably damaging Het
Vwf T C 6: 125,644,473 (GRCm39) probably benign Het
Wdr62 A C 7: 29,967,300 (GRCm39) V318G probably damaging Het
Zfp398 T A 6: 47,840,115 (GRCm39) S115T probably benign Het
Zfp62 T A 11: 49,107,975 (GRCm39) C689S probably damaging Het
Zmynd15 C G 11: 70,356,830 (GRCm39) P580R unknown Het
Other mutations in Prok1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Prok1 APN 3 107,142,979 (GRCm39) missense probably damaging 0.99
IGL02835:Prok1 UTSW 3 107,144,531 (GRCm39) critical splice acceptor site probably null
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
Predicted Primers PCR Primer
(F):5'- CTGCCAGACTAACCCATCTG -3'
(R):5'- ATTTAGAGGCAGCCCTGGATC -3'

Sequencing Primer
(F):5'- ACTCCCAGACAGTGATTACCTTC -3'
(R):5'- CAGCCCTGGATCTGGCTATATAAATC -3'
Posted On 2016-08-04