Incidental Mutation 'IGL00336:Prokr1'
ID 5410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prokr1
Ensembl Gene ENSMUSG00000049409
Gene Name prokineticin receptor 1
Synonyms Pkr1, Gpr73, EG-VEGFR1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00336
Quality Score
Status
Chromosome 6
Chromosomal Location 87578591-87590743 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87588611 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 84 (I84N)
Ref Sequence ENSEMBL: ENSMUSP00000144999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050887] [ENSMUST00000203636] [ENSMUST00000204682]
AlphaFold Q9JKL1
Predicted Effect probably damaging
Transcript: ENSMUST00000050887
AA Change: I84N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059034
Gene: ENSMUSG00000049409
AA Change: I84N

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

DomainStartEndE-ValueType
low complexity region 100 113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204682
AA Change: I84N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144999
Gene: ENSMUSG00000049409
AA Change: I84N

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Prokr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R8428:Prokr1 UTSW 6 87588774 missense probably benign
R8478:Prokr1 UTSW 6 87581348 missense probably benign 0.01
R9369:Prokr1 UTSW 6 87581425 missense possibly damaging 0.95
Posted On 2012-04-20