Incidental Mutation 'R1139:Prl2c2'
ID |
95400 |
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 |
039212-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R1139 (G1)
|
Quality Score |
137 |
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
G |
A |
11: 58,179,112 (GRCm39) |
V149M |
probably damaging |
Het |
Abcc4 |
A |
G |
14: 118,738,252 (GRCm39) |
M1166T |
possibly damaging |
Het |
Adgra3 |
A |
T |
5: 50,119,097 (GRCm39) |
|
probably null |
Het |
Alox12b |
A |
T |
11: 69,055,231 (GRCm39) |
Q334L |
probably damaging |
Het |
Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
Bod1l |
A |
T |
5: 41,988,814 (GRCm39) |
M431K |
possibly damaging |
Het |
Ckap5 |
A |
G |
2: 91,411,488 (GRCm39) |
N966D |
probably benign |
Het |
Csmd3 |
C |
G |
15: 47,559,232 (GRCm39) |
D2240H |
probably damaging |
Het |
Erbin |
A |
G |
13: 104,020,761 (GRCm39) |
F66S |
probably damaging |
Het |
Mrgprh |
A |
T |
17: 13,095,829 (GRCm39) |
N23I |
probably benign |
Het |
Mst1r |
G |
T |
9: 107,797,168 (GRCm39) |
D1346Y |
possibly damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,507,230 (GRCm39) |
M290T |
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or52n20 |
A |
G |
7: 104,320,098 (GRCm39) |
Y63C |
probably damaging |
Het |
Or56a3b |
A |
G |
7: 104,771,180 (GRCm39) |
Y172C |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,948 (GRCm39) |
H17R |
possibly damaging |
Het |
Rpgrip1 |
A |
C |
14: 52,384,678 (GRCm39) |
E757D |
probably benign |
Het |
Scn9a |
T |
G |
2: 66,335,341 (GRCm39) |
K1207T |
probably benign |
Het |
Spata31e2 |
T |
G |
1: 26,721,746 (GRCm39) |
I1145L |
probably benign |
Het |
Ssb |
A |
G |
2: 69,696,920 (GRCm39) |
T87A |
possibly damaging |
Het |
Tfdp1 |
C |
T |
8: 13,423,000 (GRCm39) |
R302C |
probably benign |
Het |
Thbs4 |
T |
C |
13: 92,911,226 (GRCm39) |
Y319C |
probably damaging |
Het |
Tiam2 |
C |
A |
17: 3,527,542 (GRCm39) |
Q67K |
possibly damaging |
Het |
Tox3 |
A |
G |
8: 90,975,497 (GRCm39) |
L378P |
probably damaging |
Het |
Vcpip1 |
A |
T |
1: 9,816,948 (GRCm39) |
H478Q |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,294,052 (GRCm39) |
I713T |
possibly 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 |
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 |
R1319: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 |
2014-01-05 |