Incidental Mutation 'R4259:Prl3b1'
| ID |
322576 |
| 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 |
041072-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4259 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
27426413-27433666 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 27427889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035273]
[ENSMUST00000225089]
|
| AlphaFold |
P09586 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035273
|
| SMART Domains |
Protein: ENSMUSP00000047680
Gene: ENSMUSG00000038891
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
18 |
222 |
1e-55 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225089
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Cd248 |
A |
G |
19: 5,118,866 (GRCm39) |
D238G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,462,807 (GRCm39) |
G230S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
| Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
| Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
| Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
| Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,931,970 (GRCm39) |
D38G |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
probably damaging |
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 |
|
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 |
|
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'- CTTTATAGCTGGGGCACTCC -3'
(R):5'- GCTCCATTGGAATAGAAAGAAGGTC -3'
Sequencing Primer
(F):5'- CTGTTGCTGGCAGTGTCAAACC -3'
(R):5'- GGCCTGACCTTTTCTGAATGGAAAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation