Incidental Mutation 'R6623:Prokr2'
| ID |
524587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prokr2
|
| Ensembl Gene |
ENSMUSG00000050558 |
| Gene Name |
prokineticin receptor 2 |
| Synonyms |
Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1 |
| MMRRC Submission |
044745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6623 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
132211625-132227413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 132215494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 161
(N161K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049997]
[ENSMUST00000110156]
[ENSMUST00000110157]
[ENSMUST00000142766]
|
| AlphaFold |
Q8K458 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049997
AA Change: N322K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: N322K
| 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: N322K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: N322K
| 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 |
probably damaging
Transcript: ENSMUST00000142766
AA Change: N161K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124526
Gene: ENSMUSG00000050558
AA Change: N161K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
169 |
4.9e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (29/29) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,634,388 (GRCm39) |
K460E |
probably damaging |
Het |
| Acaca |
A |
C |
11: 84,262,325 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,592,525 (GRCm39) |
S628P |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,924,818 (GRCm39) |
N101S |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,915,892 (GRCm39) |
V281M |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,099,972 (GRCm38) |
S553P |
probably damaging |
Het |
| Cstdc2 |
A |
T |
2: 148,692,682 (GRCm39) |
I40K |
probably benign |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Homo |
| Hmcn1 |
A |
G |
1: 150,634,057 (GRCm39) |
F843S |
probably benign |
Het |
| Igkv10-96 |
T |
G |
6: 68,609,158 (GRCm39) |
S46R |
probably damaging |
Het |
| Itfg2 |
G |
T |
6: 128,388,620 (GRCm39) |
A289D |
probably damaging |
Het |
| Klc1 |
C |
A |
12: 111,772,475 (GRCm39) |
N597K |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,961,297 (GRCm39) |
V545A |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,745,631 (GRCm39) |
I344V |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myrf |
C |
A |
19: 10,200,723 (GRCm39) |
A317S |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,251,521 (GRCm39) |
C251S |
probably damaging |
Het |
| Or52i2 |
T |
G |
7: 102,319,241 (GRCm39) |
M38R |
possibly damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,711 (GRCm39) |
T619I |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,753 (GRCm39) |
M1672K |
probably damaging |
Het |
| Prl |
G |
T |
13: 27,245,492 (GRCm39) |
V72L |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,724,951 (GRCm39) |
D2454G |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,540,799 (GRCm39) |
M218K |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,776,944 (GRCm39) |
A992V |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,682,561 (GRCm39) |
I50T |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,625,715 (GRCm39) |
I570M |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,856,132 (GRCm39) |
I53F |
probably damaging |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,991 (GRCm39) |
M261K |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,846 (GRCm39) |
I19F |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,500 (GRCm39) |
T843A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,309 (GRCm39) |
I610L |
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 |
|
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 |
|
R6599:Prokr2
|
UTSW |
2 |
132,215,469 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- GTCTGATACAATCCACCTCTTCAG -3'
(R):5'- AAGAGCTCTGGTTCAAGGCTG -3'
Sequencing Primer
(F):5'- AATCCACCTCTTCAGTGGCAGG -3'
(R):5'- GGCTTCCAGACGGAGCAAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation