Incidental Mutation 'R1277:Prl3c1'
| ID |
150930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl3c1
|
| Ensembl Gene |
ENSMUSG00000017922 |
| Gene Name |
prolactin family 3, subfamily c, member 1 |
| Synonyms |
Prlpj, PLP I, PLP-J |
| MMRRC Submission |
039343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1277 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
27380643-27387732 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27387555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 180
(L180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018066]
[ENSMUST00000110364]
[ENSMUST00000178072]
|
| AlphaFold |
Q9QUN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018066
AA Change: L200P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018066
Gene: ENSMUSG00000017922
AA Change: L200P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
212 |
1.5e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110364
AA Change: L180P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105993
Gene: ENSMUSG00000017922
AA Change: L180P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
2 |
192 |
2.9e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178072
AA Change: L180P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136890
Gene: ENSMUSG00000017922
AA Change: L180P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
2 |
192 |
2.9e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Appl1 |
A |
C |
14: 26,649,813 (GRCm39) |
V571G |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Chd6 |
A |
T |
2: 160,809,735 (GRCm39) |
C1509S |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,158,016 (GRCm39) |
T7A |
probably benign |
Het |
| Crlf2 |
C |
T |
5: 109,705,466 (GRCm39) |
V30I |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,316,582 (GRCm39) |
H93R |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,615,957 (GRCm39) |
V3593A |
probably benign |
Het |
| Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,769 (GRCm39) |
Y33F |
possibly damaging |
Het |
| Pkd2 |
A |
G |
5: 104,650,225 (GRCm39) |
I862V |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,064,437 (GRCm39) |
V228A |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,500,594 (GRCm39) |
E118G |
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,433,319 (GRCm39) |
T51A |
possibly damaging |
Het |
| Zfp414 |
G |
T |
17: 33,849,449 (GRCm39) |
|
probably null |
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 |
|
IGL01105:Prl3c1
|
APN |
13 |
27,386,408 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGAAGTTTACTCAAGGGTGACCA -3'
(R):5'- GCAAAACTCCAGCATTTACACTCCTGTC -3'
Sequencing Primer
(F):5'- ggagggagagagagaggag -3'
(R):5'- tgttgttgttgttgttgtttgttg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation