Incidental Mutation 'IGL01105:Prl3c1'
| ID |
52569 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prl3c1
|
| Ensembl Gene |
ENSMUSG00000017922 |
| Gene Name |
prolactin family 3, subfamily c, member 1 |
| Synonyms |
Prlpj, PLP I, PLP-J |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL01105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
27380643-27387732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27386408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 131
(V131A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018066]
[ENSMUST00000110364]
[ENSMUST00000178072]
|
| AlphaFold |
Q9QUN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018066
AA Change: V131A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000018066
Gene: ENSMUSG00000017922
AA Change: V131A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
212 |
1.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110364
AA Change: V111A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105993
Gene: ENSMUSG00000017922
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
2 |
192 |
2.9e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178072
AA Change: V111A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000136890
Gene: ENSMUSG00000017922
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
2 |
192 |
2.9e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility and a male reproductive tract phenotype that includes enlarged testes and seminal vesicles, increased sperm count, increased serum testosterone and luteinizing hormone levels, and abnormal adult Leydig cell differentiation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,885 (GRCm39) |
V302E |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,909,281 (GRCm39) |
D86G |
probably benign |
Het |
| Antxr2 |
G |
T |
5: 98,152,802 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,321,699 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,060 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
C |
T |
4: 109,518,823 (GRCm39) |
V44I |
probably damaging |
Het |
| Chodl |
T |
C |
16: 78,738,151 (GRCm39) |
Y40H |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,888,521 (GRCm39) |
D391G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,000,320 (GRCm39) |
T311A |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,358,294 (GRCm39) |
S620N |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,401,680 (GRCm39) |
S1096T |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,459 (GRCm39) |
I53M |
unknown |
Het |
| Limk2 |
G |
A |
11: 3,305,475 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,371,484 (GRCm39) |
R382* |
probably null |
Het |
| Mamdc2 |
T |
A |
19: 23,308,366 (GRCm39) |
D512V |
probably benign |
Het |
| Marchf1 |
A |
T |
8: 66,871,529 (GRCm39) |
T353S |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,219,567 (GRCm39) |
D312G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,678 (GRCm39) |
M627I |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,583,193 (GRCm39) |
I184N |
probably damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,428 (GRCm39) |
K246R |
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,056,922 (GRCm39) |
|
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,408,400 (GRCm39) |
E1035D |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,220,852 (GRCm39) |
D362E |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,388,873 (GRCm39) |
V1872L |
possibly damaging |
Het |
| Postn |
T |
G |
3: 54,270,131 (GRCm39) |
I70S |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,397,055 (GRCm39) |
S107P |
possibly damaging |
Het |
| Qsox2 |
A |
G |
2: 26,099,697 (GRCm39) |
V609A |
probably benign |
Het |
| Rhebl1 |
C |
A |
15: 98,776,379 (GRCm39) |
E139D |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,150 (GRCm39) |
S2848P |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,497 (GRCm39) |
I109N |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,857,630 (GRCm39) |
H460R |
probably damaging |
Het |
| Slc35f3 |
C |
A |
8: 127,025,553 (GRCm39) |
P10Q |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,031 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
G |
T |
11: 32,527,740 (GRCm39) |
V163L |
probably benign |
Het |
| Tssk6 |
A |
G |
8: 70,355,462 (GRCm39) |
T169A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,921,550 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
|
| Other mutations in Prl3c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Prl3c1
|
APN |
13 |
27,384,746 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00567:Prl3c1
|
APN |
13 |
27,384,695 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02985:Prl3c1
|
APN |
13 |
27,383,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03013:Prl3c1
|
APN |
13 |
27,383,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
G1Funyon:Prl3c1
|
UTSW |
13 |
27,383,168 (GRCm39) |
unclassified |
probably benign |
|
|
H8930:Prl3c1
|
UTSW |
13 |
27,384,689 (GRCm39) |
nonsense |
probably null |
|
|
R0437:Prl3c1
|
UTSW |
13 |
27,383,447 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0630:Prl3c1
|
UTSW |
13 |
27,384,674 (GRCm39) |
splice site |
probably benign |
|
|
R1277:Prl3c1
|
UTSW |
13 |
27,387,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Prl3c1
|
UTSW |
13 |
27,380,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2121:Prl3c1
|
UTSW |
13 |
27,383,325 (GRCm39) |
splice site |
probably null |
|
|
R4752:Prl3c1
|
UTSW |
13 |
27,387,508 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4959:Prl3c1
|
UTSW |
13 |
27,386,471 (GRCm39) |
splice site |
probably null |
|
|
R5863:Prl3c1
|
UTSW |
13 |
27,387,593 (GRCm39) |
makesense |
probably null |
|
|
R7912:Prl3c1
|
UTSW |
13 |
27,383,367 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7913:Prl3c1
|
UTSW |
13 |
27,383,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8157:Prl3c1
|
UTSW |
13 |
27,383,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Prl3c1
|
UTSW |
13 |
27,383,168 (GRCm39) |
unclassified |
probably benign |
|
|
R8352:Prl3c1
|
UTSW |
13 |
27,386,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8452:Prl3c1
|
UTSW |
13 |
27,386,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8898:Prl3c1
|
UTSW |
13 |
27,387,578 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Prl3c1
|
UTSW |
13 |
27,387,484 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2013-06-21 |
Incidental Mutation