Incidental Mutation 'R2294:Prl7b1'
ID |
245112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prl7b1
|
Ensembl Gene |
ENSMUSG00000021347 |
Gene Name |
prolactin family 7, subfamily b, member 1 |
Synonyms |
PLP-N, Prlpn, 1600014J19Rik |
MMRRC Submission |
040293-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2294 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
27785802-27794565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27786854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 125
(M125K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080595]
|
AlphaFold |
Q8CGZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080595
AA Change: M125K
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000079431 Gene: ENSMUSG00000021347 AA Change: M125K
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
16 |
241 |
3.1e-60 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (30/30) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
C |
T |
15: 98,495,322 (GRCm39) |
V673I |
possibly damaging |
Het |
Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
Chchd3 |
T |
C |
6: 32,829,122 (GRCm39) |
E166G |
probably damaging |
Het |
Chrna7 |
A |
T |
7: 62,760,172 (GRCm39) |
S135T |
probably benign |
Het |
Dxo |
G |
A |
17: 35,057,962 (GRCm39) |
|
probably null |
Het |
Fbxw18 |
A |
G |
9: 109,505,865 (GRCm39) |
S469P |
probably damaging |
Het |
G3bp2 |
G |
A |
5: 92,205,887 (GRCm39) |
R290C |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,026,591 (GRCm39) |
L103P |
probably damaging |
Het |
Lrig3 |
C |
T |
10: 125,802,363 (GRCm39) |
R7* |
probably null |
Het |
Lrp6 |
A |
G |
6: 134,434,705 (GRCm39) |
C1333R |
probably damaging |
Het |
Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,680 (GRCm39) |
N154I |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,200,155 (GRCm39) |
D252E |
probably damaging |
Het |
Nos3 |
T |
A |
5: 24,569,855 (GRCm39) |
V7E |
probably damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,312 (GRCm39) |
L213P |
probably damaging |
Het |
Osbpl6 |
A |
T |
2: 76,407,423 (GRCm39) |
D446V |
possibly damaging |
Het |
Pik3c2b |
C |
A |
1: 132,994,513 (GRCm39) |
P159H |
probably damaging |
Het |
Pkhd1l1 |
C |
T |
15: 44,343,003 (GRCm39) |
T160I |
probably damaging |
Het |
Prelid3a |
C |
T |
18: 67,605,941 (GRCm39) |
T16M |
probably damaging |
Het |
Rars1 |
C |
A |
11: 35,708,363 (GRCm39) |
|
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,200,991 (GRCm39) |
T235A |
probably benign |
Het |
Slc38a2 |
C |
A |
15: 96,589,643 (GRCm39) |
V363L |
probably benign |
Het |
Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
Tgfb3 |
T |
C |
12: 86,116,684 (GRCm39) |
N118S |
probably benign |
Het |
Tmem175 |
T |
C |
5: 108,786,525 (GRCm39) |
|
probably benign |
Het |
Tmem232 |
A |
T |
17: 65,757,436 (GRCm39) |
N252K |
probably benign |
Het |
Trappc8 |
G |
T |
18: 20,999,211 (GRCm39) |
C305* |
probably null |
Het |
Tyro3 |
T |
C |
2: 119,636,126 (GRCm39) |
V223A |
probably damaging |
Het |
Yipf2 |
C |
T |
9: 21,501,177 (GRCm39) |
V74M |
probably 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 |
IGL01605: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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTCTATCCCTTAGTGGCAAG -3'
(R):5'- TGCAGGAGAGTGGCTGAAATTC -3'
Sequencing Primer
(F):5'- GTGGAAAGTAAGAATATGTCTCACC -3'
(R):5'- GGAGAGTGGCTGAAATTCTATAACTC -3'
|
Posted On |
2014-10-30 |