Incidental Mutation 'R4483:Prl7a2'
| ID |
331503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl7a2
|
| Ensembl Gene |
ENSMUSG00000046899 |
| Gene Name |
prolactin family 7, subfamily a, member 2 |
| Synonyms |
Prlpf, PLP-F |
| MMRRC Submission |
041739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4483 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
27842567-27852019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27844930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 152
(H152L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006660]
|
| AlphaFold |
O54831 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006660
AA Change: H152L
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006660
Gene: ENSMUSG00000046899
AA Change: H152L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
17 |
244 |
6.9e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,567,349 (GRCm39) |
G5275S |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,747,699 (GRCm39) |
S1563P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,680 (GRCm39) |
V229A |
probably damaging |
Het |
| AW112010 |
A |
G |
19: 11,027,757 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
A |
G |
5: 92,781,187 (GRCm39) |
S873P |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,802,214 (GRCm39) |
V1104A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,121,678 (GRCm39) |
A57V |
probably damaging |
Het |
| Cpa5 |
A |
G |
6: 30,624,625 (GRCm39) |
E155G |
probably damaging |
Het |
| Ctsq |
T |
C |
13: 61,186,726 (GRCm39) |
I93V |
probably benign |
Het |
| Dbi |
A |
T |
1: 120,048,535 (GRCm39) |
I37K |
probably benign |
Het |
| Defa35 |
T |
C |
8: 21,555,208 (GRCm39) |
S43P |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,534,781 (GRCm39) |
|
probably benign |
Het |
| Fbxl6 |
A |
G |
15: 76,422,129 (GRCm39) |
L180P |
probably damaging |
Het |
| Fkbpl |
T |
C |
17: 34,865,269 (GRCm39) |
F346L |
probably damaging |
Het |
| Gm11735 |
C |
A |
11: 116,632,101 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,866,321 (GRCm39) |
I373T |
possibly damaging |
Het |
| Golga4 |
T |
C |
9: 118,343,254 (GRCm39) |
S27P |
probably damaging |
Het |
| Gstm1 |
C |
T |
3: 107,923,834 (GRCm39) |
|
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,310 (GRCm39) |
I1092K |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Parp11 |
A |
G |
6: 127,448,568 (GRCm39) |
T62A |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,237,317 (GRCm39) |
L1323S |
probably damaging |
Het |
| Ppp2r1a |
C |
T |
17: 21,176,072 (GRCm39) |
T98I |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,622,410 (GRCm39) |
Y315F |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Tnfaip3 |
A |
T |
10: 18,887,375 (GRCm39) |
M50K |
probably damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp9x |
A |
G |
X: 12,987,687 (GRCm39) |
D638G |
possibly damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,487,141 (GRCm39) |
|
probably null |
Het |
| Zfp532 |
G |
T |
18: 65,789,636 (GRCm39) |
W1025L |
probably benign |
Het |
|
| Other mutations in Prl7a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Prl7a2
|
APN |
13 |
27,843,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02424:Prl7a2
|
APN |
13 |
27,851,953 (GRCm39) |
missense |
probably null |
0.08 |
|
IGL02734:Prl7a2
|
APN |
13 |
27,843,190 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02823:Prl7a2
|
APN |
13 |
27,846,734 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4260001:Prl7a2
|
UTSW |
13 |
27,843,259 (GRCm39) |
nonsense |
probably null |
|
|
R0733:Prl7a2
|
UTSW |
13 |
27,846,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Prl7a2
|
UTSW |
13 |
27,846,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1778:Prl7a2
|
UTSW |
13 |
27,843,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1857:Prl7a2
|
UTSW |
13 |
27,843,163 (GRCm39) |
nonsense |
probably null |
|
|
R2063:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2064:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2065:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2067:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2068:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2176:Prl7a2
|
UTSW |
13 |
27,843,089 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2213:Prl7a2
|
UTSW |
13 |
27,849,051 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4111:Prl7a2
|
UTSW |
13 |
27,849,050 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4459:Prl7a2
|
UTSW |
13 |
27,849,979 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4722:Prl7a2
|
UTSW |
13 |
27,844,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Prl7a2
|
UTSW |
13 |
27,843,143 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5778:Prl7a2
|
UTSW |
13 |
27,844,983 (GRCm39) |
nonsense |
probably null |
|
|
R6667:Prl7a2
|
UTSW |
13 |
27,845,024 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7107:Prl7a2
|
UTSW |
13 |
27,843,076 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7600:Prl7a2
|
UTSW |
13 |
27,843,264 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8298:Prl7a2
|
UTSW |
13 |
27,844,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8447:Prl7a2
|
UTSW |
13 |
27,849,941 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9009:Prl7a2
|
UTSW |
13 |
27,849,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Prl7a2
|
UTSW |
13 |
27,849,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Prl7a2
|
UTSW |
13 |
27,849,869 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGAATATCTACAAGTGAGATGC -3'
(R):5'- AGCAAATTCTTGGGCTCCC -3'
Sequencing Primer
(F):5'- GCTTCAAATTTTAATCTCTGTTGCAG -3'
(R):5'- GGGCTTGGAATGAAACTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation