Incidental Mutation 'IGL00592:Prokr2'
ID7020
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? Possibly non essential (E-score: 0.276) question?
Stock #IGL00592
Quality Score
Status
Chromosome2
Chromosomal Location132337733-132385447 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 132381504 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 39 (D39E)
Ref Sequence ENSEMBL: ENSMUSP00000105784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049997] [ENSMUST00000110156] [ENSMUST00000110157] [ENSMUST00000142766] [ENSMUST00000145995]
Predicted Effect probably benign
Transcript: ENSMUST00000049997
AA Change: D39E

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: D39E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 61 349 3.3e-7 PFAM
Pfam:7tm_1 67 330 8.2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110156
AA Change: D39E

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: D39E

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
AA Change: D39E

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105785
Gene: ENSMUSG00000050558
AA Change: D39E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 61 153 5.2e-7 PFAM
Pfam:7tm_1 67 155 1.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142766
SMART Domains Protein: ENSMUSP00000124526
Gene: ENSMUSG00000050558

DomainStartEndE-ValueType
Pfam:7tm_1 1 169 4.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145995
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Ak6 T C 13: 100,664,091 V74A probably benign Het
Antxr1 C A 6: 87,288,802 V110F probably damaging Het
Anxa1 T C 19: 20,377,669 D247G probably benign Het
Dgkg T C 16: 22,479,362 probably benign Het
Eva1b T C 4: 126,149,650 M161T probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Sgms2 A G 3: 131,341,833 S131P possibly damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2b A C 11: 51,986,719 V141G probably damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Zbtb4 T A 11: 69,776,731 C287* probably null Het
Other mutations in Prokr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01948:Prokr2 APN 2 132373683 missense probably damaging 0.97
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
R7092:Prokr2 UTSW 2 132381316 missense possibly damaging 0.88
R7252:Prokr2 UTSW 2 132381440 missense probably benign 0.03
R7736:Prokr2 UTSW 2 132381580 nonsense probably null
R7767:Prokr2 UTSW 2 132374076 missense probably damaging 1.00
Z1177:Prokr2 UTSW 2 132373665 missense not run
Posted On2012-04-20