Incidental Mutation 'R8401:Prok1'
ID 652181
Institutional Source Beutler Lab
Gene Symbol Prok1
Ensembl Gene ENSMUSG00000070368
Gene Name prokineticin 1
Synonyms EG-VEGF
MMRRC Submission 067877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8401 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 107140113-107147023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107144513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 30 (I30T)
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: I30T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000060617
Gene: ENSMUSG00000070368
AA Change: I30T

DomainStartEndE-ValueType
Pfam:Prokineticin 1 97 2.7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179399
Predicted Effect probably benign
Transcript: ENSMUST00000197758
AA Change: I14T

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143197
Gene: ENSMUSG00000070368
AA Change: I14T

DomainStartEndE-ValueType
Pfam:Prokineticin 1 81 1.5e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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
Ankrd28 T C 14: 31,467,251 (GRCm39) Y207C probably damaging Het
Ano8 T C 8: 71,936,011 (GRCm39) D235G probably damaging Het
Atp2b4 T A 1: 133,659,574 (GRCm39) I463F probably damaging Het
Brca2 T A 5: 150,475,817 (GRCm39) I2509N probably damaging Het
Brinp3 T C 1: 146,777,184 (GRCm39) S544P probably benign Het
Chd1 A G 17: 15,963,473 (GRCm39) Y824C probably damaging Het
Dapk1 T C 13: 60,870,904 (GRCm39) V330A probably benign Het
Dct T C 14: 118,280,615 (GRCm39) T134A possibly damaging Het
Ddx56 T C 11: 6,214,199 (GRCm39) D350G probably damaging Het
Ddx60 C T 8: 62,409,277 (GRCm39) L438F possibly damaging Het
Dnah17 T A 11: 117,915,485 (GRCm39) K4378M probably damaging Het
Drc7 C T 8: 95,800,763 (GRCm39) S595F probably benign Het
Epb41 C T 4: 131,702,018 (GRCm39) R539Q probably damaging Het
Foxred2 T C 15: 77,836,191 (GRCm39) I389V probably damaging Het
Gan C A 8: 117,910,242 (GRCm39) T57K possibly damaging Het
Glra3 T C 8: 56,542,124 (GRCm39) V289A probably damaging Het
Grk1 T C 8: 13,457,846 (GRCm39) F249L probably damaging Het
Grk6 G A 13: 55,599,981 (GRCm39) A258T possibly damaging Het
Hars1 T C 18: 36,904,243 (GRCm39) N212S possibly damaging Het
Ikzf2 C A 1: 69,578,254 (GRCm39) Q418H probably damaging Het
Ikzf2 T G 1: 69,578,255 (GRCm39) Q418P probably damaging Het
Klre1 T A 6: 129,556,989 (GRCm39) N30K probably benign Het
Lama5 G T 2: 179,840,580 (GRCm39) D606E probably damaging Het
Lca5l T C 16: 95,963,760 (GRCm39) K393R probably damaging Het
Lmbrd2 A T 15: 9,156,294 (GRCm39) I124F possibly damaging Het
Loxhd1 C A 18: 77,468,156 (GRCm39) P935T probably damaging Het
Nes T C 3: 87,885,388 (GRCm39) S1216P possibly damaging Het
Nim1k A G 13: 120,174,213 (GRCm39) L227P probably damaging Het
Nkx2-1 C A 12: 56,579,841 (GRCm39) L366F probably damaging Het
Nol6 C A 4: 41,119,548 (GRCm39) R586L possibly damaging Het
Ogdh T A 11: 6,247,174 (GRCm39) L66* probably null Het
Or2b28 A T 13: 21,531,997 (GRCm39) I300L probably benign Het
Orm3 A G 4: 63,274,467 (GRCm39) S11G possibly damaging Het
Pkn3 C A 2: 29,970,071 (GRCm39) S126R probably benign Het
Pnpla8 T A 12: 44,335,091 (GRCm39) D442E probably damaging Het
Pop1 A T 15: 34,508,755 (GRCm39) T277S probably damaging Het
Prkag2 T C 5: 25,068,868 (GRCm39) T563A probably benign Het
Prkdc T A 16: 15,591,477 (GRCm39) F2652I possibly damaging Het
Prr9 T G 3: 92,030,356 (GRCm39) T95P possibly damaging Het
Ptgds A G 2: 25,359,669 (GRCm39) M6T unknown Het
Rnaseh2b T A 14: 62,607,938 (GRCm39) D250E probably benign Het
Rundc1 C T 11: 101,324,383 (GRCm39) T363M probably damaging Het
Ryr2 T A 13: 11,683,821 (GRCm39) H3081L possibly damaging Het
Setmar T C 6: 108,053,124 (GRCm39) I206T probably benign Het
Skic8 A T 9: 54,635,539 (GRCm39) S21T probably benign Het
Slitrk6 A G 14: 110,989,453 (GRCm39) S85P possibly damaging Het
Spi1 A G 2: 90,943,650 (GRCm39) N65D probably benign Het
Stx1b A T 7: 127,406,945 (GRCm39) probably benign Het
Trav5-4 G A 14: 53,941,750 (GRCm39) S41N probably benign Het
Tspan14 T C 14: 40,630,049 (GRCm39) D260G probably benign Het
Ube4a T C 9: 44,852,527 (GRCm39) D645G possibly damaging Het
Ush2a C T 1: 188,275,062 (GRCm39) T1845I probably benign Het
Vps18 T C 2: 119,127,973 (GRCm39) L932P probably damaging Het
Zfp62 T A 11: 49,108,218 (GRCm39) C770S probably damaging Het
Zfp672 T C 11: 58,207,628 (GRCm39) K231R probably benign 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
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
X0027:Prok1 UTSW 3 107,142,970 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGCTGTTCTAAACTGGCCC -3'
(R):5'- CACCACTGAGCAGGAAGAGTTC -3'

Sequencing Primer
(F):5'- TCGAATGCCAGCCTAGTA -3'
(R):5'- GAGTTCCCCAGACTGAAGTC -3'
Posted On 2020-10-20