Incidental Mutation 'IGL02930:Prokr2'
ID364070
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: 0.203) question?
Stock #IGL02930
Quality Score
Status
Chromosome2
Chromosomal Location132337733-132385447 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132373474 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 195 (S195G)
Ref Sequence ENSEMBL: ENSMUSP00000124526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049997] [ENSMUST00000110156] [ENSMUST00000110157] [ENSMUST00000142766]
Predicted Effect probably benign
Transcript: ENSMUST00000049997
AA Change: S356G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: S356G

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: S356G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: S356G

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 probably benign
Transcript: ENSMUST00000142766
AA Change: S195G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124526
Gene: ENSMUSG00000050558
AA Change: S195G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,226 N3433S possibly damaging Het
Actl9 T C 17: 33,434,099 S378P probably damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Ankef1 T C 2: 136,550,325 I478T possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cmtm2b A C 8: 104,329,770 M104L probably benign Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Elobl T G 11: 88,965,186 D17A possibly damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Flna G A X: 74,223,900 R2548C probably damaging Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rps6kl1 T C 12: 85,149,774 T39A probably benign Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Tbx21 A G 11: 97,100,039 I271T probably damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R probably benign Het
Other mutations in Prokr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Prokr2 APN 2 132381504 missense probably benign 0.28
IGL01948:Prokr2 APN 2 132373683 missense probably damaging 0.97
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 On2015-12-18