Incidental Mutation 'IGL01948:Prokr2'
ID180989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prokr2
Ensembl Gene ENSMUSG00000050558
Gene Nameprokineticin receptor 2
SynonymsGpcr73l1, B830005M06Rik, PKR2, EG-VEGRF2, Gpr73l1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.247) question?
Stock #IGL01948
Quality Score
Status
Chromosome2
Chromosomal Location132337733-132385447 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 132373683 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 286 (A286E)
Ref Sequence ENSEMBL: ENSMUSP00000105784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049997] [ENSMUST00000110156] [ENSMUST00000110157] [ENSMUST00000142766]
Predicted Effect probably damaging
Transcript: ENSMUST00000049997
AA Change: A286E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: A286E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 61 349 3.3e-7 PFAM
Pfam:7tm_1 67 330 8.2e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110156
AA Change: A286E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: A286E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 61 349 3.3e-7 PFAM
Pfam:7tm_1 67 330 1.7e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110157
SMART Domains Protein: ENSMUSP00000105785
Gene: ENSMUSG00000050558

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 61 153 5.2e-7 PFAM
Pfam:7tm_1 67 155 1.7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142766
AA Change: A125E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124526
Gene: ENSMUSG00000050558
AA Change: A125E

DomainStartEndE-ValueType
Pfam:7tm_1 1 169 4.9e-19 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show 50% neonatal lethality, olfactory bulb malformation, and reproductive system atrophy related to a lack of hypothalamic gonadotropin-releasing hormone synthesizing neurons. Homozygotes for another null allele show impaired circadian behavior and thermoregulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T C 5: 3,577,326 F101L probably damaging Het
Cacna1d T C 14: 30,124,794 T552A probably damaging Het
Ccdc81 T C 7: 89,875,855 D506G possibly damaging Het
Fam186b T C 15: 99,280,446 H333R probably benign Het
Fam222b T C 11: 78,154,339 V242A probably damaging Het
Gabra2 A G 5: 70,961,885 F425L probably damaging Het
Gm10717 A T 9: 3,025,819 T135S probably damaging Het
Gm8104 A T 14: 43,109,150 M120L probably benign Het
Gsdmc T C 15: 63,778,581 D308G probably damaging Het
Hook3 T A 8: 26,059,312 E168V possibly damaging Het
Ighv5-17 T A 12: 113,859,426 E25V probably damaging Het
Imp4 T G 1: 34,444,275 probably benign Het
Ms4a5 A C 19: 11,279,353 M60R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Ranbp9 T A 13: 43,422,553 Q226L probably damaging Het
Scara3 A G 14: 65,930,812 V452A probably damaging Het
Tmem38b C T 4: 53,850,530 P171S probably damaging Het
Zdhhc17 G T 10: 110,946,276 T519K possibly damaging Het
Other mutations in Prokr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Prokr2 APN 2 132381504 missense probably benign 0.28
IGL02930:Prokr2 APN 2 132373474 missense probably benign 0.00
R0092:Prokr2 UTSW 2 132373597 missense probably damaging 1.00
R0717:Prokr2 UTSW 2 132381334 missense probably damaging 1.00
R1547:Prokr2 UTSW 2 132373602 missense probably damaging 1.00
R1573:Prokr2 UTSW 2 132373764 missense probably damaging 0.99
R2302:Prokr2 UTSW 2 132381184 missense probably damaging 1.00
R2336:Prokr2 UTSW 2 132381439 missense probably damaging 0.99
R2483:Prokr2 UTSW 2 132381175 missense probably damaging 1.00
R4049:Prokr2 UTSW 2 132381494 missense probably benign 0.16
R4518:Prokr2 UTSW 2 132374092 critical splice acceptor site probably null
R4947:Prokr2 UTSW 2 132373653 missense probably damaging 1.00
R5961:Prokr2 UTSW 2 132373675 missense possibly damaging 0.95
R5997:Prokr2 UTSW 2 132381442 missense probably damaging 0.99
R6333:Prokr2 UTSW 2 132373978 missense probably damaging 0.98
R6543:Prokr2 UTSW 2 132373899 missense probably benign 0.13
R6599:Prokr2 UTSW 2 132373549 missense possibly damaging 0.92
R6623:Prokr2 UTSW 2 132373574 missense probably damaging 1.00
Posted On2014-05-07