Incidental Mutation 'R0717:Prokr2'
ID |
62859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prokr2
|
Ensembl Gene |
ENSMUSG00000050558 |
Gene Name |
prokineticin receptor 2 |
Synonyms |
Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1 |
MMRRC Submission |
038899-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R0717 (G1)
|
Quality Score |
169 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
132211625-132227413 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132223254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 96
(D96G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105785
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049997]
[ENSMUST00000110156]
[ENSMUST00000110157]
[ENSMUST00000142766]
[ENSMUST00000145995]
|
AlphaFold |
Q8K458 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049997
AA Change: D96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056659 Gene: ENSMUSG00000050558 AA Change: D96G
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: D96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105784 Gene: ENSMUSG00000050558 AA Change: D96G
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 damaging
Transcript: ENSMUST00000110157
AA Change: D96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105785 Gene: ENSMUSG00000050558 AA Change: D96G
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 |
probably benign
Transcript: ENSMUST00000142766
|
SMART Domains |
Protein: ENSMUSP00000124526 Gene: ENSMUSG00000050558
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
1 |
169 |
4.9e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145995
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
Anxa11 |
G |
A |
14: 25,875,213 (GRCm39) |
|
probably null |
Het |
Arhgap33 |
G |
T |
7: 30,227,774 (GRCm39) |
A475E |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,026,029 (GRCm39) |
N811S |
probably damaging |
Het |
Cadm1 |
T |
A |
9: 47,721,366 (GRCm39) |
M252K |
probably benign |
Het |
Cars1 |
T |
C |
7: 143,138,492 (GRCm39) |
R149G |
probably damaging |
Het |
Ccdc125 |
A |
T |
13: 100,826,866 (GRCm39) |
D241V |
probably damaging |
Het |
Col12a1 |
G |
A |
9: 79,519,701 (GRCm39) |
P2836S |
probably damaging |
Het |
Grid2 |
T |
A |
6: 64,643,259 (GRCm39) |
I1007K |
possibly damaging |
Het |
Hdhd2 |
G |
A |
18: 77,038,900 (GRCm39) |
A28T |
possibly damaging |
Het |
Hivep1 |
A |
T |
13: 42,308,422 (GRCm39) |
T221S |
possibly damaging |
Het |
Lztr1 |
A |
G |
16: 17,333,912 (GRCm39) |
|
probably null |
Het |
Mbd1 |
C |
T |
18: 74,406,668 (GRCm39) |
A137V |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,963,356 (GRCm39) |
V1099A |
probably benign |
Het |
Nox4 |
C |
A |
7: 86,954,098 (GRCm39) |
Y134* |
probably null |
Het |
Or5k14 |
A |
G |
16: 58,693,133 (GRCm39) |
C127R |
probably damaging |
Het |
Pde1c |
T |
A |
6: 56,099,997 (GRCm39) |
N681I |
probably damaging |
Het |
Pon1 |
A |
G |
6: 5,193,674 (GRCm39) |
|
probably null |
Het |
Sdk2 |
C |
A |
11: 113,723,152 (GRCm39) |
V1280F |
probably damaging |
Het |
Sim1 |
A |
G |
10: 50,785,924 (GRCm39) |
D259G |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,655,599 (GRCm39) |
M459K |
probably benign |
Het |
Tmem201 |
T |
A |
4: 149,803,267 (GRCm39) |
N534Y |
probably damaging |
Het |
Tspan9 |
A |
T |
6: 127,943,343 (GRCm39) |
|
probably null |
Het |
Uba7 |
A |
T |
9: 107,854,416 (GRCm39) |
T252S |
probably benign |
Het |
Ube2e2 |
T |
C |
14: 18,888,435 (GRCm38) |
T3A |
probably benign |
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 |
IGL01948:Prokr2
|
APN |
2 |
132,215,603 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGAACCTCACCTGTCAATAGCG -3'
(R):5'- AGCTTTGCACCAGACTTGAATCCAC -3'
Sequencing Primer
(F):5'- GTACGAAGGTAGTTGACGGA -3'
(R):5'- ACAGTTATGGTGATTATGACCTCCC -3'
|
Posted On |
2013-07-30 |