Incidental Mutation 'R2330:Prl2c5'
| ID |
245848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl2c5
|
| Ensembl Gene |
ENSMUSG00000055360 |
| Gene Name |
prolactin family 2, subfamily c, member 5 |
| Synonyms |
MRP-4, Mrpplf4, PLF-4 |
| MMRRC Submission |
040321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
13357300-13366508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13366378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 219
(M219K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021778]
[ENSMUST00000126540]
[ENSMUST00000151144]
|
| AlphaFold |
Q9JLV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021778
AA Change: M216K
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000021778
Gene: ENSMUSG00000055360
AA Change: M216K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
222 |
2.7e-70 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126540
AA Change: M219K
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115024
Gene: ENSMUSG00000055360
AA Change: M219K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
19 |
225 |
1.5e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151144
|
| SMART Domains |
Protein: ENSMUSP00000117522
Gene: ENSMUSG00000055360
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
172 |
3.5e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
| Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
| Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
| Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
| Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
| Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
| Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
| Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
Het |
|
| Other mutations in Prl2c5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Prl2c5
|
APN |
13 |
13,364,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01874:Prl2c5
|
APN |
13 |
13,365,362 (GRCm39) |
missense |
probably benign |
|
|
IGL01878:Prl2c5
|
APN |
13 |
13,360,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0178:Prl2c5
|
UTSW |
13 |
13,366,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0276:Prl2c5
|
UTSW |
13 |
13,357,634 (GRCm39) |
intron |
probably benign |
|
|
R0373:Prl2c5
|
UTSW |
13 |
13,357,609 (GRCm39) |
intron |
probably benign |
|
|
R0539:Prl2c5
|
UTSW |
13 |
13,363,906 (GRCm39) |
splice site |
probably null |
|
|
R1037:Prl2c5
|
UTSW |
13 |
13,360,492 (GRCm39) |
nonsense |
probably null |
|
|
R1296:Prl2c5
|
UTSW |
13 |
13,364,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Prl2c5
|
UTSW |
13 |
13,365,310 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1557:Prl2c5
|
UTSW |
13 |
13,365,265 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1850:Prl2c5
|
UTSW |
13 |
13,360,377 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1866:Prl2c5
|
UTSW |
13 |
13,365,358 (GRCm39) |
splice site |
probably null |
|
|
R1894:Prl2c5
|
UTSW |
13 |
13,366,263 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2060:Prl2c5
|
UTSW |
13 |
13,365,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4755:Prl2c5
|
UTSW |
13 |
13,363,970 (GRCm39) |
missense |
probably benign |
|
|
R5229:Prl2c5
|
UTSW |
13 |
13,360,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Prl2c5
|
UTSW |
13 |
13,357,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6307:Prl2c5
|
UTSW |
13 |
13,365,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6350:Prl2c5
|
UTSW |
13 |
13,357,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6927:Prl2c5
|
UTSW |
13 |
13,357,503 (GRCm39) |
splice site |
probably null |
|
|
R7397:Prl2c5
|
UTSW |
13 |
13,366,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7965:Prl2c5
|
UTSW |
13 |
13,360,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8084:Prl2c5
|
UTSW |
13 |
13,360,539 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8959:Prl2c5
|
UTSW |
13 |
13,365,392 (GRCm39) |
intron |
probably benign |
|
|
R8980:Prl2c5
|
UTSW |
13 |
13,360,470 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9258:Prl2c5
|
UTSW |
13 |
13,365,297 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9465:Prl2c5
|
UTSW |
13 |
13,360,531 (GRCm39) |
missense |
probably benign |
0.42 |
|
RF020:Prl2c5
|
UTSW |
13 |
13,360,497 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0025:Prl2c5
|
UTSW |
13 |
13,366,339 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGCTACCCTCACCAACATCATG -3'
(R):5'- TGTGTTGGTTGCACATCTAAC -3'
Sequencing Primer
(F):5'- ACAAATTTATTTAGCATTTAGGCACC -3'
(R):5'- GTGTTGGTTGCACATCTAACTTCAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation