Incidental Mutation 'IGL03344:Prokr1'
ID417375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prokr1
Ensembl Gene ENSMUSG00000049409
Gene Nameprokineticin receptor 1
SynonymsPkr1, Gpr73, EG-VEGFR1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03344
Quality Score
Status
Chromosome6
Chromosomal Location87578591-87590743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87588500 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 121 (D121G)
Ref Sequence ENSEMBL: ENSMUSP00000144999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050887] [ENSMUST00000203636] [ENSMUST00000204682]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050887
AA Change: D121G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059034
Gene: ENSMUSG00000049409
AA Change: D121G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 73 360 8.8e-8 PFAM
Pfam:7tm_1 79 342 7.2e-47 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000203636
AA Change: T83A
SMART Domains Protein: ENSMUSP00000145476
Gene: ENSMUSG00000049409
AA Change: T83A

DomainStartEndE-ValueType
low complexity region 100 113 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000204682
AA Change: D121G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144999
Gene: ENSMUSG00000049409
AA Change: D121G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 73 360 8.8e-8 PFAM
Pfam:7tm_1 79 342 7.2e-47 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein-coupled receptor family. The encoded protein binds to prokineticins (1 and 2), leading to the activation of MAPK and STAT signaling pathways. Prokineticins are protein ligands involved in angiogenesis and inflammation. The encoded protein is expressed in peripheral tissues such as those comprising the circulatory system, lungs, reproductive system, endocrine system and the gastrointestinal system. The protein may be involved in signaling in human fetal ovary during initiation of primordial follicle formation. Sequence variants in this gene may be associated with recurrent miscarriage. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit abnormal nociceptions and hypoalgesia. Mice homozygous for another null allele exhibit decreased capillary density in the heart. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
Atxn7l1 A G 12: 33,326,066 N47D probably damaging Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chrna2 A G 14: 66,150,966 K477E probably damaging Het
Chtf8 G A 8: 106,886,272 P12S probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Fxyd6 T G 9: 45,392,250 L81R probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr342 T C 2: 36,528,128 S239P probably damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Serpina3c T C 12: 104,147,264 I408V probably benign Het
Ska2 A G 11: 87,109,313 probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Prokr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Prokr1 APN 6 87588611 missense probably damaging 1.00
IGL00838:Prokr1 APN 6 87588693 missense possibly damaging 0.94
IGL01083:Prokr1 APN 6 87588784 missense probably benign 0.41
IGL02677:Prokr1 APN 6 87588368 splice site probably benign
R1953:Prokr1 UTSW 6 87588593 missense probably benign 0.18
R2065:Prokr1 UTSW 6 87588713 missense probably damaging 0.98
R3161:Prokr1 UTSW 6 87588431 missense probably damaging 1.00
R4777:Prokr1 UTSW 6 87588860 start codon destroyed probably null 0.98
R4828:Prokr1 UTSW 6 87581242 missense probably benign 0.07
R4890:Prokr1 UTSW 6 87588696 missense probably benign 0.00
R4943:Prokr1 UTSW 6 87581824 missense possibly damaging 0.90
R6134:Prokr1 UTSW 6 87588855 missense possibly damaging 0.54
R6183:Prokr1 UTSW 6 87588852 missense possibly damaging 0.94
R6329:Prokr1 UTSW 6 87581792 missense possibly damaging 0.94
R6794:Prokr1 UTSW 6 87588693 missense possibly damaging 0.94
R6922:Prokr1 UTSW 6 87588473 missense probably damaging 1.00
R8428:Prokr1 UTSW 6 87588774 missense probably benign
Posted On2016-08-02