Incidental Mutation 'R1250:Prl2c2'
| ID |
151730 |
| 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 |
039317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1250 (G1)
|
| Quality Score |
145 |
|
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: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aptx |
T |
A |
4: 40,693,447 (GRCm39) |
E162D |
probably benign |
Het |
| Cdhr4 |
A |
T |
9: 107,874,715 (GRCm39) |
Q20L |
probably damaging |
Het |
| Dlk1 |
A |
T |
12: 109,425,744 (GRCm39) |
T206S |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,063,273 (GRCm39) |
L32P |
probably benign |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,922,262 (GRCm39) |
S954T |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,257,648 (GRCm39) |
|
probably null |
Het |
| Lingo3 |
T |
C |
10: 80,670,605 (GRCm39) |
T442A |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 19,986,521 (GRCm39) |
A912T |
possibly damaging |
Het |
| Msantd3 |
C |
A |
4: 48,552,789 (GRCm39) |
P126Q |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,853,887 (GRCm38) |
S358P |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,902,909 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,784 (GRCm39) |
S365G |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,719,491 (GRCm39) |
T402K |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,054,531 (GRCm39) |
M1T |
probably null |
Het |
| Ttn |
A |
G |
2: 76,720,904 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,643 (GRCm39) |
V74A |
probably benign |
Het |
| Zkscan3 |
A |
G |
13: 21,572,694 (GRCm39) |
F313L |
probably benign |
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 |
|
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 |
2014-01-29 |
Incidental Mutation