Incidental Mutation 'R1382:Prl2c2'
| ID |
163104 |
| 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 |
039444-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1382 (G1)
|
| Quality Score |
149 |
|
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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
T |
15: 72,998,889 (GRCm39) |
C236Y |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,315,955 (GRCm39) |
T916A |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,486,090 (GRCm39) |
V529A |
probably benign |
Het |
| Cep192 |
G |
A |
18: 67,989,370 (GRCm39) |
R1839Q |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,513 (GRCm39) |
N295S |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,144,815 (GRCm39) |
|
probably null |
Het |
| Cuedc1 |
C |
T |
11: 88,068,189 (GRCm39) |
P146S |
probably benign |
Het |
| Ddc |
T |
C |
11: 11,774,856 (GRCm39) |
D345G |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,598,181 (GRCm39) |
C700S |
probably benign |
Het |
| Dst |
A |
T |
1: 34,307,914 (GRCm39) |
E6224D |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,721,362 (GRCm39) |
T334A |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Lemd3 |
A |
T |
10: 120,767,641 (GRCm39) |
I711K |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,628,749 (GRCm39) |
D365G |
probably damaging |
Het |
| Mdga2 |
A |
T |
12: 66,517,690 (GRCm39) |
I48K |
possibly damaging |
Het |
| Or51q1c |
G |
T |
7: 103,652,927 (GRCm39) |
L148F |
probably benign |
Het |
| Pate7 |
T |
A |
9: 35,689,390 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,281,742 (GRCm39) |
V180A |
probably benign |
Het |
| Phactr1 |
T |
C |
13: 43,286,451 (GRCm39) |
F584S |
probably damaging |
Het |
| Ppan |
A |
G |
9: 20,803,214 (GRCm39) |
K429E |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,264,674 (GRCm39) |
V647A |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,535,540 (GRCm39) |
F407S |
probably damaging |
Het |
| Rab3gap1 |
A |
T |
1: 127,870,333 (GRCm39) |
T985S |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,182,376 (GRCm39) |
G1196D |
probably damaging |
Het |
| Tub |
G |
A |
7: 108,629,360 (GRCm39) |
V426I |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,856,471 (GRCm39) |
Y498C |
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 |
|
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 |
|
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 |
2014-03-17 |
Incidental Mutation