Incidental Mutation 'IGL01948:Prokr2'
| ID |
180989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prokr2
|
| Ensembl Gene |
ENSMUSG00000050558 |
| Gene Name |
prokineticin receptor 2 |
| Synonyms |
Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL01948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132211625-132227413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 132215603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 286
(A286E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049997]
[ENSMUST00000110156]
[ENSMUST00000110157]
[ENSMUST00000142766]
|
| AlphaFold |
Q8K458 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049997
AA Change: A286E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: A286E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
61 |
349 |
3.3e-7 |
PFAM |
|
Pfam:7tm_1
|
67 |
330 |
8.2e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110156
AA Change: A286E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: A286E
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
61 |
153 |
5.2e-7 |
PFAM |
|
Pfam:7tm_1
|
67 |
155 |
1.7e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142766
AA Change: A125E
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124526
Gene: ENSMUSG00000050558
AA Change: A125E
| Domain | Start | End | E-Value | Type |
|---|
|
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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
T |
C |
5: 3,627,326 (GRCm39) |
F101L |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,846,751 (GRCm39) |
T552A |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,063 (GRCm39) |
D506G |
possibly damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,327 (GRCm39) |
H333R |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,045,165 (GRCm39) |
V242A |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,228 (GRCm39) |
F425L |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,025,819 (GRCm39) |
T135S |
probably damaging |
Het |
| Gm8104 |
A |
T |
14: 42,966,607 (GRCm39) |
M120L |
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,650,430 (GRCm39) |
D308G |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,549,340 (GRCm39) |
E168V |
possibly damaging |
Het |
| Ighv5-17 |
T |
A |
12: 113,823,046 (GRCm39) |
E25V |
probably damaging |
Het |
| Imp4 |
T |
G |
1: 34,483,356 (GRCm39) |
|
probably benign |
Het |
| Ms4a5 |
A |
C |
19: 11,256,717 (GRCm39) |
M60R |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Ranbp9 |
T |
A |
13: 43,576,029 (GRCm39) |
Q226L |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,850,530 (GRCm39) |
P171S |
probably damaging |
Het |
| Zdhhc17 |
G |
T |
10: 110,782,137 (GRCm39) |
T519K |
possibly damaging |
Het |
|
| Other mutations in Prokr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Prokr2
|
APN |
2 |
132,223,424 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02930:Prokr2
|
APN |
2 |
132,215,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0092:Prokr2
|
UTSW |
2 |
132,215,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Prokr2
|
UTSW |
2 |
132,223,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Prokr2
|
UTSW |
2 |
132,215,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Prokr2
|
UTSW |
2 |
132,215,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2302:Prokr2
|
UTSW |
2 |
132,223,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2336:Prokr2
|
UTSW |
2 |
132,223,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2483:Prokr2
|
UTSW |
2 |
132,223,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4049:Prokr2
|
UTSW |
2 |
132,223,414 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4518:Prokr2
|
UTSW |
2 |
132,216,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4947:Prokr2
|
UTSW |
2 |
132,215,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5961:Prokr2
|
UTSW |
2 |
132,215,595 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5997:Prokr2
|
UTSW |
2 |
132,223,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6333:Prokr2
|
UTSW |
2 |
132,215,898 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6543:Prokr2
|
UTSW |
2 |
132,215,819 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6599:Prokr2
|
UTSW |
2 |
132,215,469 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6623:Prokr2
|
UTSW |
2 |
132,215,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Prokr2
|
UTSW |
2 |
132,223,236 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7252:Prokr2
|
UTSW |
2 |
132,223,360 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7736:Prokr2
|
UTSW |
2 |
132,223,500 (GRCm39) |
nonsense |
probably null |
|
|
R7767:Prokr2
|
UTSW |
2 |
132,215,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Prokr2
|
UTSW |
2 |
132,215,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8226:Prokr2
|
UTSW |
2 |
132,215,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8511:Prokr2
|
UTSW |
2 |
132,223,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8909:Prokr2
|
UTSW |
2 |
132,215,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8931:Prokr2
|
UTSW |
2 |
132,215,996 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9240:Prokr2
|
UTSW |
2 |
132,223,377 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9342:Prokr2
|
UTSW |
2 |
132,182,790 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1177:Prokr2
|
UTSW |
2 |
132,215,585 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2014-05-07 |
Incidental Mutation