Incidental Mutation 'R6599:Prokr2'
| ID |
525101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prokr2
|
| Ensembl Gene |
ENSMUSG00000050558 |
| Gene Name |
prokineticin receptor 2 |
| Synonyms |
Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1 |
| MMRRC Submission |
044723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6599 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
132211625-132227413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132215469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 331
(V331M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049997]
[ENSMUST00000110156]
[ENSMUST00000110157]
[ENSMUST00000142766]
|
| AlphaFold |
Q8K458 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049997
AA Change: V331M
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: V331M
| 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 |
possibly damaging
Transcript: ENSMUST00000110156
AA Change: V331M
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: V331M
| 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: V170M
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124526
Gene: ENSMUSG00000050558
AA Change: V170M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
169 |
4.9e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
94% (32/34) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
| Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
| Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
| Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
| Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
| Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
| Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
| Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
| Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
| Rps6ka5 |
C |
A |
12: 100,564,168 (GRCm39) |
G227V |
probably damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
| Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
| Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
| Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
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 |
|
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 |
|
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'- GGCAACACCTGAAGGCTACTTTAG -3'
(R):5'- CTTCCAGACGGAGCAAATCC -3'
Sequencing Primer
(F):5'- CCTGAAGGCTACTTTAGTCTGATAC -3'
(R):5'- AGTGCTACTGCTCATGGGCATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation