Incidental Mutation 'R1364:Prl3b1'
ID |
162862 |
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 |
039429-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1364 (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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
A |
10: 20,848,055 (GRCm39) |
L488I |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,041,179 (GRCm39) |
F2519S |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,956,654 (GRCm39) |
|
probably benign |
Het |
Csn1s1 |
T |
C |
5: 87,825,443 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 103,985,363 (GRCm39) |
S1920T |
possibly damaging |
Het |
Dnah17 |
T |
A |
11: 118,016,432 (GRCm39) |
|
probably benign |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,949,043 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
A |
9: 66,307,375 (GRCm39) |
L1023Q |
probably damaging |
Het |
Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
Hycc1 |
T |
C |
5: 24,170,351 (GRCm39) |
T333A |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,798,106 (GRCm39) |
M906V |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,858,672 (GRCm39) |
L1130Q |
probably damaging |
Het |
Nebl |
A |
T |
2: 17,397,848 (GRCm39) |
|
probably benign |
Het |
Or10q1b |
T |
C |
19: 13,682,809 (GRCm39) |
V206A |
probably benign |
Het |
Otud7b |
A |
G |
3: 96,058,768 (GRCm39) |
D320G |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,225,310 (GRCm39) |
E563G |
possibly damaging |
Het |
Prkd3 |
T |
C |
17: 79,264,687 (GRCm39) |
T643A |
probably damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Ripk3 |
A |
C |
14: 56,022,717 (GRCm39) |
|
probably null |
Het |
Sgsm3 |
T |
C |
15: 80,892,143 (GRCm39) |
F237S |
probably damaging |
Het |
Slit3 |
G |
A |
11: 35,560,934 (GRCm39) |
V960I |
probably benign |
Het |
Sptbn2 |
T |
C |
19: 4,782,693 (GRCm39) |
L543P |
probably damaging |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Unkl |
A |
G |
17: 25,408,597 (GRCm39) |
I54V |
probably benign |
Het |
Wdr75 |
A |
G |
1: 45,838,222 (GRCm39) |
T44A |
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 |
R1366:Prl3b1
|
UTSW |
13 |
27,427,848 (GRCm39) |
missense |
probably benign |
0.00 |
R1367: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 |
2014-03-17 |