Incidental Mutation 'R1319:Prl2c2'
ID |
157641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prl2c2
|
Ensembl Gene |
ENSMUSG00000079092 |
Gene Name |
prolactin family 2, subfamily c, member 2 |
Synonyms |
PLF-1, Plf1, Plf, MRP-1 |
MMRRC Submission |
039385-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R1319 (G1)
|
Quality Score |
156 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
13170710-13179968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 13176786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Arginine
at position 47
(T47R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152538
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110594]
[ENSMUST00000220558]
[ENSMUST00000221612]
[ENSMUST00000221627]
|
AlphaFold |
P04095 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110594
AA Change: T47R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106224 Gene: ENSMUSG00000079092 AA Change: T47R
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
16 |
224 |
9.2e-76 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220558
AA Change: T45R
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221612
AA Change: T47R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223124
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
C |
14: 68,846,578 (GRCm39) |
E745G |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,286,877 (GRCm39) |
K827N |
probably benign |
Het |
Ang2 |
T |
C |
14: 51,433,164 (GRCm39) |
T73A |
probably benign |
Het |
Bbs10 |
T |
C |
10: 111,134,735 (GRCm39) |
L51P |
probably damaging |
Het |
Bean1 |
T |
C |
8: 104,943,856 (GRCm39) |
I137T |
probably benign |
Het |
Cimip1 |
A |
T |
2: 173,369,716 (GRCm39) |
S77C |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,434,629 (GRCm39) |
T410A |
probably benign |
Het |
Cyp4a10 |
A |
C |
4: 115,378,342 (GRCm39) |
I143L |
probably damaging |
Het |
Dlg2 |
A |
T |
7: 92,087,231 (GRCm39) |
Q788L |
probably damaging |
Het |
Epha10 |
G |
A |
4: 124,775,707 (GRCm39) |
V14I |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,117,159 (GRCm39) |
D401N |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,234,070 (GRCm39) |
V114A |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,333,682 (GRCm39) |
P178S |
possibly damaging |
Het |
Fcrl2 |
A |
C |
3: 87,169,484 (GRCm39) |
|
probably null |
Het |
Grm1 |
G |
T |
10: 10,565,142 (GRCm39) |
H1055Q |
probably benign |
Het |
Mcm6 |
T |
C |
1: 128,276,789 (GRCm39) |
N267S |
probably benign |
Het |
Or5an1c |
T |
C |
19: 12,218,866 (GRCm39) |
D53G |
probably damaging |
Het |
Phc3 |
T |
C |
3: 30,984,018 (GRCm39) |
I699V |
probably damaging |
Het |
Pyroxd1 |
T |
C |
6: 142,304,874 (GRCm39) |
V367A |
probably benign |
Het |
R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,473,537 (GRCm39) |
I535N |
probably damaging |
Het |
Rhot1 |
T |
C |
11: 80,136,847 (GRCm39) |
C310R |
probably damaging |
Het |
Tnrc6a |
G |
A |
7: 122,783,474 (GRCm39) |
V1481M |
probably benign |
Het |
Vmn1r234 |
A |
T |
17: 21,449,172 (GRCm39) |
M29L |
probably benign |
Het |
Vmn2r68 |
A |
G |
7: 84,881,700 (GRCm39) |
I460T |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,660,465 (GRCm39) |
Y1240N |
probably damaging |
Het |
|
Other mutations in Prl2c2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01362:Prl2c2
|
APN |
13 |
13,176,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R0991:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R0993:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1139:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1196:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1250:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1321:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1325:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1341:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1382:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1415:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1494:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1878:Prl2c2
|
UTSW |
13 |
13,179,911 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
R1950:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1983:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R1999:Prl2c2
|
UTSW |
13 |
13,176,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R3704:Prl2c2
|
UTSW |
13 |
13,176,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R4972:Prl2c2
|
UTSW |
13 |
13,176,755 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6170:Prl2c2
|
UTSW |
13 |
13,176,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R6766:Prl2c2
|
UTSW |
13 |
13,176,713 (GRCm39) |
splice site |
probably null |
|
R7426:Prl2c2
|
UTSW |
13 |
13,172,065 (GRCm39) |
splice site |
probably null |
|
R7635:Prl2c2
|
UTSW |
13 |
13,171,928 (GRCm39) |
missense |
probably damaging |
0.98 |
R7842:Prl2c2
|
UTSW |
13 |
13,179,907 (GRCm39) |
missense |
probably benign |
0.13 |
R8825:Prl2c2
|
UTSW |
13 |
13,179,656 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8878:Prl2c2
|
UTSW |
13 |
13,171,896 (GRCm39) |
missense |
probably damaging |
0.99 |
X0065:Prl2c2
|
UTSW |
13 |
13,176,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTTTCTGCTTTAGGCTATGCACTA -3'
(R):5'- TCAGCACCCTGCCTTGAATCAAAT -3'
Sequencing Primer
(F):5'- CTATATCAACCATTGTGTTGGAGGC -3'
(R):5'- caaaacaaccaaccaaccaac -3'
|
Posted On |
2014-02-18 |