Incidental Mutation 'IGL03344:Prokr1'
| ID |
417375 |
| 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 |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87555573-87567725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87565482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q9JKL1 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,975,005 (GRCm39) |
I26N |
probably damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,376,065 (GRCm39) |
N47D |
probably damaging |
Het |
| Cer1 |
A |
T |
4: 82,803,062 (GRCm39) |
W87R |
probably damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,415 (GRCm39) |
K477E |
probably damaging |
Het |
| Chtf8 |
G |
A |
8: 107,612,904 (GRCm39) |
P12S |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,461 (GRCm39) |
H555Q |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,418,197 (GRCm39) |
I1975M |
probably damaging |
Het |
| Ecpas |
A |
C |
4: 58,828,538 (GRCm39) |
V965G |
probably damaging |
Het |
| Fsd2 |
C |
A |
7: 81,209,657 (GRCm39) |
V62L |
probably benign |
Het |
| Fxyd6 |
T |
G |
9: 45,303,548 (GRCm39) |
L81R |
probably benign |
Het |
| Htt |
T |
A |
5: 35,064,810 (GRCm39) |
S3008T |
probably benign |
Het |
| Htt |
T |
A |
5: 35,037,172 (GRCm39) |
S2086T |
probably benign |
Het |
| Mybbp1a |
G |
T |
11: 72,336,028 (GRCm39) |
R447L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 90,998,411 (GRCm39) |
V792A |
possibly damaging |
Het |
| Odad2 |
C |
A |
18: 7,129,434 (GRCm39) |
G915* |
probably null |
Het |
| Odr4 |
T |
C |
1: 150,239,295 (GRCm39) |
E386G |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,003 (GRCm39) |
I302L |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,418,140 (GRCm39) |
S239P |
probably damaging |
Het |
| Puf60 |
A |
G |
15: 75,942,229 (GRCm39) |
V548A |
possibly damaging |
Het |
| Serpina3c |
T |
C |
12: 104,113,523 (GRCm39) |
I408V |
probably benign |
Het |
| Ska2 |
A |
G |
11: 87,000,139 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
A |
18: 36,668,654 (GRCm39) |
Y745N |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,029,106 (GRCm39) |
M299T |
probably benign |
Het |
| Speer4f1 |
A |
G |
5: 17,685,332 (GRCm39) |
E209G |
possibly damaging |
Het |
| Tmem202 |
T |
C |
9: 59,426,351 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vegfc |
T |
A |
8: 54,610,186 (GRCm39) |
I114N |
possibly damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,493 (GRCm39) |
T274S |
possibly damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,170 (GRCm39) |
N753S |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,014,314 (GRCm39) |
T624A |
probably damaging |
Het |
|
| Other mutations in Prokr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Prokr1
|
APN |
6 |
87,565,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00838:Prokr1
|
APN |
6 |
87,565,675 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01083:Prokr1
|
APN |
6 |
87,565,766 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02677:Prokr1
|
APN |
6 |
87,565,350 (GRCm39) |
splice site |
probably benign |
|
|
R1953:Prokr1
|
UTSW |
6 |
87,565,575 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2065:Prokr1
|
UTSW |
6 |
87,565,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3161:Prokr1
|
UTSW |
6 |
87,565,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Prokr1
|
UTSW |
6 |
87,565,842 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R4828:Prokr1
|
UTSW |
6 |
87,558,224 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4890:Prokr1
|
UTSW |
6 |
87,565,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4943:Prokr1
|
UTSW |
6 |
87,558,806 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6134:Prokr1
|
UTSW |
6 |
87,565,837 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6183:Prokr1
|
UTSW |
6 |
87,565,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6329:Prokr1
|
UTSW |
6 |
87,558,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6794:Prokr1
|
UTSW |
6 |
87,565,675 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6922:Prokr1
|
UTSW |
6 |
87,565,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Prokr1
|
UTSW |
6 |
87,565,756 (GRCm39) |
missense |
probably benign |
|
|
R8478:Prokr1
|
UTSW |
6 |
87,558,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9369:Prokr1
|
UTSW |
6 |
87,558,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation