Incidental Mutation 'R1367:Prl3b1'
ID |
156087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prl3b1
|
Ensembl Gene |
ENSMUSG00000038891 |
Gene Name |
prolactin family 3, subfamily b, member 1 |
Synonyms |
mplII, PL, Pl-2, mPL-II, Pl2, prolactin-like, Csh2 |
MMRRC Submission |
039432-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
27426413-27433666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 27427848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 53
(A53T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047680
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035273]
[ENSMUST00000225089]
|
AlphaFold |
P09586 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035273
AA Change: A53T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000047680 Gene: ENSMUSG00000038891 AA Change: A53T
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
18 |
222 |
1e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225089
AA Change: A53T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 86.6%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
C |
16: 14,261,250 (GRCm39) |
V676A |
probably damaging |
Het |
Acvr1b |
T |
C |
15: 101,091,819 (GRCm39) |
L33P |
possibly damaging |
Het |
Adamts12 |
T |
G |
15: 11,256,980 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,601,819 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
T |
A |
8: 14,990,225 (GRCm39) |
D233E |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,899,084 (GRCm39) |
*209W |
probably null |
Het |
Cebpz |
A |
G |
17: 79,230,742 (GRCm39) |
V825A |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,563,290 (GRCm39) |
F1575L |
probably damaging |
Het |
Exoc2 |
A |
T |
13: 31,066,256 (GRCm39) |
Y473* |
probably null |
Het |
F3 |
A |
G |
3: 121,523,023 (GRCm39) |
T78A |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Gga2 |
G |
A |
7: 121,598,138 (GRCm39) |
R319* |
probably null |
Het |
Gid8 |
A |
G |
2: 180,355,025 (GRCm39) |
I10M |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,311 (GRCm39) |
W139R |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
Hectd3 |
G |
T |
4: 116,854,367 (GRCm39) |
V310L |
probably null |
Het |
Insyn1 |
G |
T |
9: 58,406,263 (GRCm39) |
D58Y |
probably damaging |
Het |
Kif17 |
C |
A |
4: 138,005,305 (GRCm39) |
S290* |
probably null |
Het |
Kif26b |
A |
G |
1: 178,744,028 (GRCm39) |
N1375D |
probably damaging |
Het |
Lgr4 |
C |
G |
2: 109,821,480 (GRCm39) |
P121A |
probably damaging |
Het |
Ly75 |
A |
G |
2: 60,124,102 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Nek3 |
T |
C |
8: 22,650,377 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
T |
12: 70,090,703 (GRCm39) |
L904Q |
probably damaging |
Het |
Nlrp14 |
A |
G |
7: 106,782,018 (GRCm39) |
D405G |
probably benign |
Het |
Nuak1 |
C |
T |
10: 84,228,192 (GRCm39) |
|
probably benign |
Het |
Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
Plcg2 |
T |
A |
8: 118,341,977 (GRCm39) |
W1113R |
probably damaging |
Het |
Pms2 |
G |
A |
5: 143,862,731 (GRCm39) |
V613M |
probably damaging |
Het |
Pxk |
T |
G |
14: 8,150,915 (GRCm38) |
|
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,820,119 (GRCm39) |
|
probably benign |
Het |
Slc41a1 |
A |
G |
1: 131,771,746 (GRCm39) |
T387A |
probably benign |
Het |
Slc44a2 |
T |
C |
9: 21,254,322 (GRCm39) |
V228A |
probably benign |
Het |
Slpi |
A |
G |
2: 164,196,787 (GRCm39) |
|
probably benign |
Het |
Tkfc |
A |
G |
19: 10,570,838 (GRCm39) |
S481P |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Tns3 |
T |
C |
11: 8,398,704 (GRCm39) |
H1216R |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,571,973 (GRCm39) |
S20T |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
Usp48 |
T |
A |
4: 137,371,774 (GRCm39) |
S967T |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Zdhhc23 |
A |
G |
16: 43,794,513 (GRCm39) |
S54P |
probably benign |
Het |
|
Other mutations in Prl3b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02385:Prl3b1
|
APN |
13 |
27,433,366 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02669:Prl3b1
|
APN |
13 |
27,429,795 (GRCm39) |
missense |
probably benign |
0.24 |
IGL03035:Prl3b1
|
APN |
13 |
27,433,516 (GRCm39) |
unclassified |
probably benign |
|
IGL03077:Prl3b1
|
APN |
13 |
27,429,759 (GRCm39) |
missense |
probably benign |
0.00 |
Gabby
|
UTSW |
13 |
27,431,928 (GRCm39) |
missense |
probably damaging |
1.00 |
peaches
|
UTSW |
13 |
27,426,473 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
Pits
|
UTSW |
13 |
27,431,957 (GRCm39) |
critical splice donor site |
probably null |
|
R2014_Prl3b1_632
|
UTSW |
13 |
27,431,948 (GRCm39) |
missense |
probably benign |
0.00 |
R0716:Prl3b1
|
UTSW |
13 |
27,427,779 (GRCm39) |
missense |
probably benign |
0.02 |
R0758:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R0773:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R0774:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R0775:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R1364:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R1366:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R1368:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R1530:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R1884:Prl3b1
|
UTSW |
13 |
27,431,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1990:Prl3b1
|
UTSW |
13 |
27,429,775 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1991:Prl3b1
|
UTSW |
13 |
27,431,895 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2014:Prl3b1
|
UTSW |
13 |
27,431,948 (GRCm39) |
missense |
probably benign |
0.00 |
R2885:Prl3b1
|
UTSW |
13 |
27,433,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R4259:Prl3b1
|
UTSW |
13 |
27,427,889 (GRCm39) |
splice site |
probably null |
|
R4580:Prl3b1
|
UTSW |
13 |
27,433,450 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4913:Prl3b1
|
UTSW |
13 |
27,433,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R5897:Prl3b1
|
UTSW |
13 |
27,429,858 (GRCm39) |
missense |
probably benign |
0.08 |
R6235:Prl3b1
|
UTSW |
13 |
27,431,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R6366:Prl3b1
|
UTSW |
13 |
27,427,875 (GRCm39) |
missense |
probably benign |
0.00 |
R6597:Prl3b1
|
UTSW |
13 |
27,431,957 (GRCm39) |
critical splice donor site |
probably null |
|
R7179:Prl3b1
|
UTSW |
13 |
27,427,827 (GRCm39) |
missense |
probably benign |
0.05 |
R7312:Prl3b1
|
UTSW |
13 |
27,426,473 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
X0026:Prl3b1
|
UTSW |
13 |
27,431,906 (GRCm39) |
missense |
probably benign |
0.21 |
Z1177:Prl3b1
|
UTSW |
13 |
27,427,742 (GRCm39) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACAGACAGTATAGCCTCTACAGTGT -3'
(R):5'- AGGGTTTGATGATTGCTCCATTGGAA -3'
Sequencing Primer
(F):5'- CAGTATAGCCTCTACAGTGTCATTTG -3'
(R):5'- ggaggaggtgagaggtgg -3'
|
Posted On |
2014-02-11 |