Incidental Mutation 'IGL02654:Prl8a2'
| ID |
302285 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prl8a2
|
| Ensembl Gene |
ENSMUSG00000018259 |
| Gene Name |
prolactin family 8, subfamily a, member 2 |
| Synonyms |
D/tPRP, DPRP, mdPRP, Dtprp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
27529656-27538199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 27536780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 134
(I134S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018403]
[ENSMUST00000110363]
|
| AlphaFold |
O54832 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018403
AA Change: I134S
PolyPhen 2
Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018403
Gene: ENSMUSG00000018259
AA Change: I134S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
240 |
6.4e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110363
AA Change: I133S
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105992
Gene: ENSMUSG00000018259
AA Change: I133S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
15 |
239 |
2.1e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223918
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit reduced pregnancy success when exposed to hypoxic conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,977,826 (GRCm39) |
I468T |
possibly damaging |
Het |
| Actmap |
A |
G |
7: 26,903,298 (GRCm39) |
E289G |
probably damaging |
Het |
| Anxa13 |
A |
G |
15: 58,205,397 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef33 |
A |
G |
17: 80,677,740 (GRCm39) |
Y429C |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,275,433 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,817,473 (GRCm39) |
|
probably benign |
Het |
| Dld |
G |
T |
12: 31,383,916 (GRCm39) |
H396N |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,319 (GRCm39) |
V942A |
probably damaging |
Het |
| Eln |
A |
T |
5: 134,745,908 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,908,271 (GRCm39) |
T2577M |
possibly damaging |
Het |
| Gad1 |
A |
T |
2: 70,403,125 (GRCm39) |
K73M |
possibly damaging |
Het |
| Gipc1 |
T |
C |
8: 84,389,780 (GRCm39) |
V253A |
probably damaging |
Het |
| Gtpbp10 |
A |
C |
5: 5,593,372 (GRCm39) |
|
probably benign |
Het |
| Hgf |
A |
T |
5: 16,766,049 (GRCm39) |
T62S |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,161 (GRCm39) |
S1134P |
probably damaging |
Het |
| Hnrnpc |
A |
G |
14: 52,321,574 (GRCm39) |
L80S |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,765,076 (GRCm39) |
R770H |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,401 (GRCm39) |
T374A |
possibly damaging |
Het |
| Mlana |
A |
G |
19: 29,682,018 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
C |
T |
4: 129,116,112 (GRCm39) |
G851R |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,716 (GRCm39) |
I169V |
possibly damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,555 (GRCm39) |
Y195* |
probably null |
Het |
| P3h3 |
A |
G |
6: 124,822,228 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,614 (GRCm39) |
M468K |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,738,730 (GRCm39) |
V2828A |
probably damaging |
Het |
| Rhbdd1 |
G |
T |
1: 82,320,504 (GRCm39) |
V163F |
probably benign |
Het |
| Rrp1 |
A |
G |
10: 78,248,773 (GRCm39) |
V5A |
probably benign |
Het |
| Sephs1 |
A |
T |
2: 4,889,366 (GRCm39) |
N48I |
probably benign |
Het |
| Speer4a3 |
T |
A |
5: 26,158,205 (GRCm39) |
H49L |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,242 (GRCm39) |
Y149H |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,324 (GRCm39) |
D396G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,015 (GRCm39) |
S2419G |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,618,606 (GRCm39) |
T35A |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,772 (GRCm39) |
F362Y |
probably damaging |
Het |
|
| Other mutations in Prl8a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03268:Prl8a2
|
APN |
13 |
27,537,938 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0557:Prl8a2
|
UTSW |
13 |
27,536,875 (GRCm39) |
nonsense |
probably null |
|
|
R0574:Prl8a2
|
UTSW |
13 |
27,532,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Prl8a2
|
UTSW |
13 |
27,537,935 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1401:Prl8a2
|
UTSW |
13 |
27,537,979 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1875:Prl8a2
|
UTSW |
13 |
27,535,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2420:Prl8a2
|
UTSW |
13 |
27,532,896 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4152:Prl8a2
|
UTSW |
13 |
27,534,985 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5285:Prl8a2
|
UTSW |
13 |
27,534,116 (GRCm39) |
splice site |
probably null |
|
|
R6452:Prl8a2
|
UTSW |
13 |
27,536,780 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6906:Prl8a2
|
UTSW |
13 |
27,532,900 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7217:Prl8a2
|
UTSW |
13 |
27,534,998 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7490:Prl8a2
|
UTSW |
13 |
27,536,753 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8170:Prl8a2
|
UTSW |
13 |
27,536,794 (GRCm39) |
missense |
probably benign |
|
|
R9099:Prl8a2
|
UTSW |
13 |
27,536,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9099:Prl8a2
|
UTSW |
13 |
27,536,793 (GRCm39) |
nonsense |
probably null |
|
|
R9244:Prl8a2
|
UTSW |
13 |
27,534,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation