Incidental Mutation 'R1321:Prl2c2'
ID |
157694 |
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 |
039387-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R1321 (G1)
|
Quality Score |
225 |
Status
|
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: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
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 |
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 |
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 |