Incidental Mutation 'IGL01605:Prl7b1'
| ID |
278738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prl7b1
|
| Ensembl Gene |
ENSMUSG00000021347 |
| Gene Name |
prolactin family 7, subfamily b, member 1 |
| Synonyms |
PLP-N, Prlpn, 1600014J19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
27785802-27794565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27786027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 214
(S214P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080595]
|
| AlphaFold |
Q8CGZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080595
AA Change: S214P
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079431
Gene: ENSMUSG00000021347
AA Change: S214P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
241 |
3.1e-60 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced fetal growth and survival following exposure of dams to low oxygen conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brip1 |
T |
A |
11: 85,952,830 (GRCm39) |
T984S |
possibly damaging |
Het |
| Cdh17 |
T |
C |
4: 11,795,670 (GRCm39) |
Y417H |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,833,834 (GRCm39) |
I1196N |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,323,854 (GRCm39) |
F447S |
probably damaging |
Het |
| Dock8 |
C |
T |
19: 25,067,252 (GRCm39) |
|
probably benign |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,530 (GRCm39) |
|
noncoding transcript |
Het |
| Fam163b |
A |
G |
2: 27,002,688 (GRCm39) |
F103S |
probably damaging |
Het |
| G0s2 |
A |
G |
1: 192,954,964 (GRCm39) |
L40P |
probably damaging |
Het |
| Gucy1b1 |
C |
T |
3: 81,942,660 (GRCm39) |
R494Q |
probably benign |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,755 (GRCm39) |
V89A |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,837,348 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,148,192 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,682,591 (GRCm39) |
D228G |
unknown |
Het |
| Msh2 |
T |
C |
17: 88,003,917 (GRCm39) |
|
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,599,550 (GRCm39) |
Y382H |
probably benign |
Het |
| Ptk2 |
C |
T |
15: 73,136,188 (GRCm39) |
|
probably benign |
Het |
| Rbpj-ps3 |
T |
C |
6: 46,507,025 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,433,531 (GRCm39) |
M162K |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,483,191 (GRCm39) |
T199A |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,035,322 (GRCm39) |
D100G |
possibly damaging |
Het |
| Taar5 |
C |
T |
10: 23,846,962 (GRCm39) |
T120I |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,623,848 (GRCm39) |
V352A |
probably benign |
Het |
| Ubap2 |
T |
A |
4: 41,227,237 (GRCm39) |
D160V |
probably damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,510,106 (GRCm39) |
V89A |
possibly damaging |
Het |
| Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly damaging |
Het |
|
| Other mutations in Prl7b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Prl7b1
|
APN |
13 |
27,788,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01350:Prl7b1
|
APN |
13 |
27,786,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01602:Prl7b1
|
APN |
13 |
27,786,027 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03106:Prl7b1
|
APN |
13 |
27,790,918 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03401:Prl7b1
|
APN |
13 |
27,785,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
fleshy
|
UTSW |
13 |
27,786,878 (GRCm39) |
splice site |
probably null |
|
|
G1Funyon:Prl7b1
|
UTSW |
13 |
27,786,755 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1169:Prl7b1
|
UTSW |
13 |
27,790,887 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1423:Prl7b1
|
UTSW |
13 |
27,786,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1846:Prl7b1
|
UTSW |
13 |
27,786,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:Prl7b1
|
UTSW |
13 |
27,786,854 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6049:Prl7b1
|
UTSW |
13 |
27,790,161 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6065:Prl7b1
|
UTSW |
13 |
27,788,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6324:Prl7b1
|
UTSW |
13 |
27,786,878 (GRCm39) |
splice site |
probably null |
|
|
R6870:Prl7b1
|
UTSW |
13 |
27,788,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Prl7b1
|
UTSW |
13 |
27,785,996 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7742:Prl7b1
|
UTSW |
13 |
27,791,031 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8301:Prl7b1
|
UTSW |
13 |
27,786,755 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9131:Prl7b1
|
UTSW |
13 |
27,790,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation