Incidental Mutation 'R6794:Prokr1'
| ID |
531663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prokr1
|
| Ensembl Gene |
ENSMUSG00000049409 |
| Gene Name |
prokineticin receptor 1 |
| Synonyms |
Pkr1, Gpr73, EG-VEGFR1 |
| MMRRC Submission |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
87555573-87567725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87565675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 57
(T57A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050887]
[ENSMUST00000203636]
[ENSMUST00000204682]
|
| AlphaFold |
Q9JKL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050887
AA Change: T57A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000059034
Gene: ENSMUSG00000049409
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
73 |
360 |
8.8e-8 |
PFAM |
|
Pfam:7tm_1
|
79 |
342 |
7.2e-47 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203636
AA Change: T57A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145476
Gene: ENSMUSG00000049409
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204682
AA Change: T57A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000144999
Gene: ENSMUSG00000049409
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
73 |
360 |
8.8e-8 |
PFAM |
|
Pfam:7tm_1
|
79 |
342 |
7.2e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.0707 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein-coupled receptor family. The encoded protein binds to prokineticins (1 and 2), leading to the activation of MAPK and STAT signaling pathways. Prokineticins are protein ligands involved in angiogenesis and inflammation. The encoded protein is expressed in peripheral tissues such as those comprising the circulatory system, lungs, reproductive system, endocrine system and the gastrointestinal system. The protein may be involved in signaling in human fetal ovary during initiation of primordial follicle formation. Sequence variants in this gene may be associated with recurrent miscarriage. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit abnormal nociceptions and hypoalgesia. Mice homozygous for another null allele exhibit decreased capillary density in the heart. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
Het |
|
| Other mutations in Prokr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Prokr1
|
APN |
6 |
87,565,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00838:Prokr1
|
APN |
6 |
87,565,675 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01083:Prokr1
|
APN |
6 |
87,565,766 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02677:Prokr1
|
APN |
6 |
87,565,350 (GRCm39) |
splice site |
probably benign |
|
|
IGL03344:Prokr1
|
APN |
6 |
87,565,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1953:Prokr1
|
UTSW |
6 |
87,565,575 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2065:Prokr1
|
UTSW |
6 |
87,565,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3161:Prokr1
|
UTSW |
6 |
87,565,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Prokr1
|
UTSW |
6 |
87,565,842 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R4828:Prokr1
|
UTSW |
6 |
87,558,224 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4890:Prokr1
|
UTSW |
6 |
87,565,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4943:Prokr1
|
UTSW |
6 |
87,558,806 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6134:Prokr1
|
UTSW |
6 |
87,565,837 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6183:Prokr1
|
UTSW |
6 |
87,565,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6329:Prokr1
|
UTSW |
6 |
87,558,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6922:Prokr1
|
UTSW |
6 |
87,565,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Prokr1
|
UTSW |
6 |
87,565,756 (GRCm39) |
missense |
probably benign |
|
|
R8478:Prokr1
|
UTSW |
6 |
87,558,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9369:Prokr1
|
UTSW |
6 |
87,558,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGACATGACCATGCTCC -3'
(R):5'- TAGATGGAGACCACTGTCGG -3'
Sequencing Primer
(F):5'- CATAGTAGTCCATCTCAAAGGGGC -3'
(R):5'- GGGCTCTGGGTGAGAATACCAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation