Incidental Mutation 'R6333:Prokr2'
ID |
513222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prokr2
|
Ensembl Gene |
ENSMUSG00000050558 |
Gene Name |
prokineticin receptor 2 |
Synonyms |
Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1 |
MMRRC Submission |
044487-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R6333 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
132211625-132227413 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132215898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 188
(F188L)
|
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: F188L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000056659 Gene: ENSMUSG00000050558 AA Change: F188L
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: F188L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105784 Gene: ENSMUSG00000050558 AA Change: F188L
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: F27L
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124526 Gene: ENSMUSG00000050558 AA Change: F27L
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
1 |
169 |
4.9e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.9%
- 20x: 93.2%
|
Validation Efficiency |
98% (50/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
T |
C |
9: 15,203,372 (GRCm39) |
K111R |
probably benign |
Het |
Abhd18 |
A |
G |
3: 40,888,218 (GRCm39) |
Y354C |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,774,427 (GRCm39) |
I424V |
possibly damaging |
Het |
AI182371 |
A |
T |
2: 34,975,281 (GRCm39) |
I306K |
probably damaging |
Het |
Asb4 |
G |
A |
6: 5,423,597 (GRCm39) |
R248H |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,071,819 (GRCm39) |
T349A |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,428,944 (GRCm39) |
|
probably null |
Het |
Cep85l |
G |
A |
10: 53,225,197 (GRCm39) |
Q131* |
probably null |
Het |
Chmp2b |
T |
A |
16: 65,337,136 (GRCm39) |
M178L |
possibly damaging |
Het |
Chrnb3 |
A |
G |
8: 27,883,355 (GRCm39) |
N84D |
probably damaging |
Het |
Clec4b2 |
A |
T |
6: 123,177,637 (GRCm39) |
|
probably null |
Het |
Defa34 |
T |
C |
8: 22,155,862 (GRCm39) |
V17A |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,653,856 (GRCm39) |
L947Q |
probably damaging |
Het |
Dynlt2a1 |
G |
A |
17: 15,261,717 (GRCm39) |
|
probably benign |
Het |
Ell |
A |
G |
8: 71,044,188 (GRCm39) |
Y578C |
probably damaging |
Het |
Esp36 |
T |
A |
17: 38,728,135 (GRCm39) |
M49L |
probably benign |
Het |
Fbxw19 |
A |
T |
9: 109,323,751 (GRCm39) |
W75R |
probably benign |
Het |
Fcgr4 |
A |
G |
1: 170,856,838 (GRCm39) |
Y235C |
probably damaging |
Het |
Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
Gm13030 |
A |
T |
4: 138,598,708 (GRCm39) |
|
probably null |
Het |
Hdac9 |
T |
C |
12: 34,102,323 (GRCm39) |
M1058V |
probably damaging |
Het |
Hsd3b6 |
A |
G |
3: 98,713,540 (GRCm39) |
F253S |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,289,266 (GRCm39) |
Y3794H |
probably damaging |
Het |
Mark4 |
G |
A |
7: 19,177,208 (GRCm39) |
T207M |
probably damaging |
Het |
Mme |
A |
G |
3: 63,249,382 (GRCm39) |
T304A |
probably benign |
Het |
Neb |
A |
G |
2: 52,148,275 (GRCm39) |
L2657P |
probably damaging |
Het |
Nufip1 |
A |
C |
14: 76,349,425 (GRCm39) |
K152N |
probably damaging |
Het |
Pcdh1 |
A |
G |
18: 38,331,860 (GRCm39) |
V381A |
probably benign |
Het |
Pdss1 |
A |
G |
2: 22,791,778 (GRCm39) |
T30A |
probably damaging |
Het |
Plrg1 |
A |
G |
3: 82,964,102 (GRCm39) |
T12A |
probably damaging |
Het |
Ppig |
C |
T |
2: 69,579,902 (GRCm39) |
H479Y |
unknown |
Het |
Prss39 |
A |
G |
1: 34,539,150 (GRCm39) |
N130S |
probably benign |
Het |
Ptar1 |
G |
A |
19: 23,671,686 (GRCm39) |
D30N |
possibly damaging |
Het |
Rai14 |
G |
T |
15: 10,575,022 (GRCm39) |
Y645* |
probably null |
Het |
Rnasek |
T |
C |
11: 70,129,252 (GRCm39) |
Y67C |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,354,192 (GRCm39) |
V4023A |
probably damaging |
Het |
Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
Sctr |
T |
C |
1: 119,984,182 (GRCm39) |
F357L |
probably damaging |
Het |
Sec14l5 |
G |
A |
16: 4,984,908 (GRCm39) |
V85I |
probably benign |
Het |
Shld2 |
G |
A |
14: 33,989,565 (GRCm39) |
T447M |
probably damaging |
Het |
Sirpd |
T |
C |
3: 15,385,671 (GRCm39) |
Y77C |
probably damaging |
Het |
Spag8 |
T |
C |
4: 43,653,186 (GRCm39) |
|
probably benign |
Het |
Tbc1d2 |
T |
C |
4: 46,620,736 (GRCm39) |
D358G |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,423,331 (GRCm39) |
T672A |
probably damaging |
Het |
Tent2 |
G |
A |
13: 93,322,821 (GRCm39) |
Q43* |
probably null |
Het |
Trmt1l |
T |
A |
1: 151,329,685 (GRCm39) |
S543T |
probably benign |
Het |
Ube4b |
A |
G |
4: 149,432,494 (GRCm39) |
F810S |
probably damaging |
Het |
Vmn2r104 |
C |
T |
17: 20,249,848 (GRCm39) |
V808I |
probably benign |
Het |
Zfp3 |
T |
A |
11: 70,662,266 (GRCm39) |
I75N |
probably benign |
Het |
Zwint |
A |
G |
10: 72,490,784 (GRCm39) |
|
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 |
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'- GAGATCCTGGCATAGCACAG -3'
(R):5'- TGCTTAAACCTGGGTCGGAG -3'
Sequencing Primer
(F):5'- CCTGGCATAGCACAGGGTCATAG -3'
(R):5'- TCTCCGGGCTGGTTAAAAAGC -3'
|
Posted On |
2018-04-27 |