Incidental Mutation 'R6733:Prl5a1'
ID |
530157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prl5a1
|
Ensembl Gene |
ENSMUSG00000017064 |
Gene Name |
prolactin family 5, subfamily a, member 1 |
Synonyms |
1600013P04Rik, D13Wsu14e, Prlpl, PLP-L |
MMRRC Submission |
044851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6733 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
28326467-28335578 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 28333919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 141
(V141F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017208]
|
AlphaFold |
Q9JII2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017208
AA Change: V141F
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000017208 Gene: ENSMUSG00000017064 AA Change: V141F
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
17 |
230 |
4.8e-50 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Prl5a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01638:Prl5a1
|
APN |
13 |
28,329,422 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01820:Prl5a1
|
APN |
13 |
28,332,683 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02682:Prl5a1
|
APN |
13 |
28,329,403 (GRCm39) |
missense |
probably benign |
0.32 |
R0266:Prl5a1
|
UTSW |
13 |
28,333,970 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1022:Prl5a1
|
UTSW |
13 |
28,333,880 (GRCm39) |
missense |
probably damaging |
0.97 |
R1024:Prl5a1
|
UTSW |
13 |
28,333,880 (GRCm39) |
missense |
probably damaging |
0.97 |
R2098:Prl5a1
|
UTSW |
13 |
28,329,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5467:Prl5a1
|
UTSW |
13 |
28,333,994 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6002:Prl5a1
|
UTSW |
13 |
28,329,465 (GRCm39) |
missense |
probably benign |
0.00 |
R6026:Prl5a1
|
UTSW |
13 |
28,335,247 (GRCm39) |
missense |
probably benign |
0.43 |
R6242:Prl5a1
|
UTSW |
13 |
28,326,538 (GRCm39) |
nonsense |
probably null |
|
R6616:Prl5a1
|
UTSW |
13 |
28,333,839 (GRCm39) |
missense |
probably benign |
0.00 |
R6979:Prl5a1
|
UTSW |
13 |
28,335,189 (GRCm39) |
missense |
probably benign |
0.32 |
R7692:Prl5a1
|
UTSW |
13 |
28,333,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Prl5a1
|
UTSW |
13 |
28,329,492 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9611:Prl5a1
|
UTSW |
13 |
28,329,492 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACAAGCTCTGAATACTCAACTAG -3'
(R):5'- TGGCTAAATTTCGCTGTGGC -3'
Sequencing Primer
(F):5'- GCTCTGAATACTCAACTAGTTATCAC -3'
(R):5'- TCGAGACAGAGTTTAGCCCTG -3'
|
Posted On |
2018-08-01 |