Incidental Mutation 'R0993:Prl2c2'
| ID |
97868 |
| 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 |
039113-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R0993 (G1)
|
| Quality Score |
211 |
|
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: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Eml5 |
T |
C |
12: 98,827,442 (GRCm39) |
E596G |
probably benign |
Het |
| Eri3 |
C |
A |
4: 117,421,860 (GRCm39) |
T46K |
possibly damaging |
Het |
| Etv1 |
C |
T |
12: 38,877,863 (GRCm39) |
P68S |
probably damaging |
Het |
| Fbxl8 |
C |
A |
8: 105,993,717 (GRCm39) |
D24E |
probably damaging |
Het |
| Gm19965 |
A |
T |
1: 116,749,555 (GRCm39) |
N412I |
probably benign |
Het |
| Lmbr1 |
T |
A |
5: 29,492,391 (GRCm39) |
H66L |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or8j3b |
T |
G |
2: 86,205,222 (GRCm39) |
Y178S |
probably damaging |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Samd8 |
T |
A |
14: 21,825,563 (GRCm39) |
V173D |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,539,406 (GRCm39) |
T365S |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,453,340 (GRCm39) |
M60T |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,803,689 (GRCm39) |
S1042G |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,535,650 (GRCm39) |
L193P |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,549,825 (GRCm39) |
K529E |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,844,262 (GRCm39) |
R1342* |
probably null |
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 |
|
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 |
|
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 |
Incidental Mutation