Incidental Mutation 'R2336:Prokr2'
| ID |
246544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prokr2
|
| Ensembl Gene |
ENSMUSG00000050558 |
| Gene Name |
prokineticin receptor 2 |
| Synonyms |
Gpcr73l1, EG-VEGRF2, B830005M06Rik, PKR2, Gpr73l1 |
| MMRRC Submission |
040323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R2336 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
132211625-132227413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132223359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 61
(M61K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049997]
[ENSMUST00000110156]
[ENSMUST00000110157]
[ENSMUST00000142766]
[ENSMUST00000145995]
|
| AlphaFold |
Q8K458 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049997
AA Change: M61K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056659
Gene: ENSMUSG00000050558
AA Change: M61K
| 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: M61K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105784
Gene: ENSMUSG00000050558
AA Change: M61K
| 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: M61K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105785
Gene: ENSMUSG00000050558
AA Change: M61K
| 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
|
| Meta Mutation Damage Score |
0.8145 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
T |
A |
1: 181,055,206 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap21 |
G |
A |
2: 20,884,862 (GRCm39) |
R772C |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,260,430 (GRCm39) |
E393G |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,799,874 (GRCm39) |
T417I |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,378 (GRCm39) |
K173R |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,189,510 (GRCm39) |
N1497K |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,481,300 (GRCm39) |
V349A |
probably benign |
Het |
| Chrnd |
T |
C |
1: 87,122,615 (GRCm39) |
F132S |
probably damaging |
Het |
| Ddx42 |
A |
G |
11: 106,121,976 (GRCm39) |
M164V |
possibly damaging |
Het |
| Dtwd2 |
A |
G |
18: 49,833,320 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,143,571 (GRCm39) |
|
probably benign |
Het |
| Fut8 |
A |
G |
12: 77,459,730 (GRCm39) |
|
probably benign |
Het |
| Gabrr3 |
C |
T |
16: 59,250,313 (GRCm39) |
T104M |
probably damaging |
Het |
| Gcat |
G |
A |
15: 78,915,180 (GRCm39) |
R16H |
probably benign |
Het |
| Gnb2 |
A |
T |
5: 137,527,460 (GRCm39) |
W125R |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,477,651 (GRCm39) |
D512N |
probably damaging |
Het |
| Hnf4g |
T |
C |
3: 3,706,284 (GRCm39) |
F60L |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,484,546 (GRCm39) |
I359T |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 111,051,283 (GRCm39) |
D325G |
probably damaging |
Het |
| Mttp |
A |
T |
3: 137,821,856 (GRCm39) |
I222K |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,330,189 (GRCm39) |
H107L |
possibly damaging |
Het |
| Obi1 |
G |
A |
14: 104,716,318 (GRCm39) |
P685L |
probably damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,689 (GRCm39) |
Y258F |
probably benign |
Het |
| Or2r11 |
A |
G |
6: 42,437,663 (GRCm39) |
C97R |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,006,121 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
A |
G |
15: 73,137,965 (GRCm39) |
C502R |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,698,192 (GRCm39) |
W172R |
probably damaging |
Het |
| Rdh16f1 |
A |
G |
10: 127,624,624 (GRCm39) |
K154R |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,305,430 (GRCm39) |
E554K |
probably benign |
Het |
| St3gal6 |
A |
T |
16: 58,314,067 (GRCm39) |
I22K |
probably damaging |
Het |
| Tut7 |
G |
T |
13: 59,946,868 (GRCm39) |
P585Q |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,782,258 (GRCm39) |
R387* |
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,470 (GRCm39) |
N643S |
probably benign |
Het |
| Zdbf2 |
G |
T |
1: 63,342,623 (GRCm39) |
R334L |
probably benign |
Het |
| Zfp868 |
G |
T |
8: 70,066,558 (GRCm39) |
|
probably null |
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 |
|
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'- CGTACGAAGGTAGTTGACGG -3'
(R):5'- AGCATCATCAACATGGGACC -3'
Sequencing Primer
(F):5'- AAGCACGTGACCATGCG -3'
(R):5'- CCCAGAACAGAAACACTAGCTTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation