Incidental Mutation 'IGL00838:Prokr1'
ID13177
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 #IGL00838
Quality Score
Status
Chromosome6
Chromosomal Location87578591-87590743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87588693 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 57 (T57A)
Ref Sequence ENSEMBL: ENSMUSP00000145476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050887] [ENSMUST00000203636] [ENSMUST00000204682]
Predicted Effect probably benign
Transcript: ENSMUST00000050887
AA Change: T57A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000059034
Gene: ENSMUSG00000049409
AA Change: T57A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 73 360 8.8e-8 PFAM
Pfam:7tm_1 79 342 7.2e-47 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203636
AA Change: T57A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145476
Gene: ENSMUSG00000049409
AA Change: T57A

DomainStartEndE-ValueType
low complexity region 100 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204682
AA Change: T57A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000144999
Gene: ENSMUSG00000049409
AA Change: T57A

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,402,757 N834K possibly damaging Het
Armc10 T A 5: 21,661,581 V281E probably damaging Het
Baat A T 4: 49,490,352 M244K probably damaging Het
Cryz T A 3: 154,618,475 C166S probably damaging Het
D430041D05Rik T A 2: 104,201,303 K1649N probably damaging Het
Dennd5b T C 6: 149,005,363 probably benign Het
Dock8 A T 19: 25,175,459 R1630* probably null Het
Gstm5 A G 3: 107,897,558 N122S probably benign Het
Klra5 C A 6: 129,911,359 G35C possibly damaging Het
Klrb1f G A 6: 129,054,316 V159I possibly damaging Het
Mgl2 A T 11: 70,134,212 M14L probably benign Het
Mob1a C T 6: 83,338,331 R78C possibly damaging Het
Pigo C T 4: 43,021,767 A392T possibly damaging Het
Polr3a A T 14: 24,475,863 N436K probably benign Het
Ror1 T G 4: 100,333,743 V99G probably damaging Het
Ryr2 A T 13: 11,568,503 I4755N probably damaging Het
Senp5 T C 16: 31,989,173 D394G probably damaging Het
Speg A G 1: 75,410,390 I1318V possibly damaging Het
Syt6 T A 3: 103,625,626 M357K probably damaging Het
Tex11 A T X: 100,972,118 I328N possibly damaging Het
Ttc37 T C 13: 76,134,791 L744P probably damaging Het
Vnn1 T C 10: 23,900,779 F343L possibly damaging Het
Wdr72 A T 9: 74,155,129 E519V probably damaging Het
Other mutations in Prokr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Prokr1 APN 6 87588611 missense probably damaging 1.00
IGL01083:Prokr1 APN 6 87588784 missense probably benign 0.41
IGL02677:Prokr1 APN 6 87588368 splice site probably benign
IGL03344:Prokr1 APN 6 87588500 missense possibly damaging 0.95
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
Posted On2012-12-06