Incidental Mutation 'R0027:Prl6a1'
ID |
15068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prl6a1
|
Ensembl Gene |
ENSMUSG00000069259 |
Gene Name |
prolactin family 6, subfamily a, member 1 |
Synonyms |
PLP-B, Prlpb |
MMRRC Submission |
038322-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R0027 (G1)
of strain
730
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
27496610-27503235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 27502011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 126
(L126Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091679]
[ENSMUST00000091680]
|
AlphaFold |
O35257 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091679
AA Change: L131Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089268 Gene: ENSMUSG00000069259 AA Change: L131Q
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
Pfam:Hormone_1
|
21 |
235 |
8e-65 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091680
AA Change: L126Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089269 Gene: ENSMUSG00000069259 AA Change: L126Q
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
16 |
230 |
1.1e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119758
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 77.1%
- 3x: 64.8%
- 10x: 37.0%
- 20x: 19.3%
|
Validation Efficiency |
92% (60/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
T |
15: 11,285,959 (GRCm39) |
I723F |
probably damaging |
Het |
Anapc1 |
G |
T |
2: 128,483,431 (GRCm39) |
D1221E |
possibly damaging |
Het |
Arhgef28 |
T |
A |
13: 98,082,204 (GRCm39) |
E1201V |
possibly damaging |
Het |
Cdkl3 |
C |
T |
11: 51,923,176 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Fam131b |
T |
A |
6: 42,295,182 (GRCm39) |
M304L |
probably benign |
Het |
Ints15 |
G |
A |
5: 143,293,817 (GRCm39) |
T220I |
probably damaging |
Het |
Kif11 |
C |
T |
19: 37,395,431 (GRCm39) |
|
probably benign |
Het |
Lrpprc |
G |
A |
17: 85,074,435 (GRCm39) |
R491* |
probably null |
Het |
Mbtd1 |
T |
C |
11: 93,815,375 (GRCm39) |
V321A |
possibly damaging |
Het |
Mon2 |
G |
A |
10: 122,871,953 (GRCm39) |
S357L |
possibly damaging |
Het |
Nopchap1 |
G |
A |
10: 83,200,393 (GRCm39) |
|
probably benign |
Het |
Papola |
A |
C |
12: 105,799,395 (GRCm39) |
S675R |
probably benign |
Het |
Pcdh9 |
T |
A |
14: 94,126,081 (GRCm39) |
I30F |
probably null |
Het |
Rad9b |
A |
G |
5: 122,489,786 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
T |
A |
4: 130,262,066 (GRCm39) |
H151Q |
probably damaging |
Het |
Stard9 |
A |
T |
2: 120,533,982 (GRCm39) |
Q3413L |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,127,704 (GRCm39) |
N567K |
probably damaging |
Het |
|
Other mutations in Prl6a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01124:Prl6a1
|
APN |
13 |
27,500,347 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01688:Prl6a1
|
APN |
13 |
27,501,969 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01922:Prl6a1
|
APN |
13 |
27,499,343 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02059:Prl6a1
|
APN |
13 |
27,499,348 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03170:Prl6a1
|
APN |
13 |
27,499,406 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0027:Prl6a1
|
UTSW |
13 |
27,502,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Prl6a1
|
UTSW |
13 |
27,501,980 (GRCm39) |
missense |
probably damaging |
0.99 |
R0606:Prl6a1
|
UTSW |
13 |
27,498,177 (GRCm39) |
intron |
probably benign |
|
R0944:Prl6a1
|
UTSW |
13 |
27,502,149 (GRCm39) |
splice site |
probably benign |
|
R1518:Prl6a1
|
UTSW |
13 |
27,502,911 (GRCm39) |
missense |
probably null |
0.19 |
R1518:Prl6a1
|
UTSW |
13 |
27,502,910 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1566:Prl6a1
|
UTSW |
13 |
27,499,410 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1621:Prl6a1
|
UTSW |
13 |
27,501,993 (GRCm39) |
missense |
probably benign |
0.01 |
R2011:Prl6a1
|
UTSW |
13 |
27,499,352 (GRCm39) |
missense |
probably benign |
0.00 |
R2058:Prl6a1
|
UTSW |
13 |
27,503,081 (GRCm39) |
missense |
probably benign |
0.05 |
R2937:Prl6a1
|
UTSW |
13 |
27,499,303 (GRCm39) |
missense |
probably damaging |
0.98 |
R3079:Prl6a1
|
UTSW |
13 |
27,502,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4685:Prl6a1
|
UTSW |
13 |
27,500,307 (GRCm39) |
missense |
probably benign |
0.00 |
R4856:Prl6a1
|
UTSW |
13 |
27,502,983 (GRCm39) |
missense |
probably damaging |
0.98 |
R4886:Prl6a1
|
UTSW |
13 |
27,502,983 (GRCm39) |
missense |
probably damaging |
0.98 |
R5495:Prl6a1
|
UTSW |
13 |
27,496,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5923:Prl6a1
|
UTSW |
13 |
27,500,346 (GRCm39) |
missense |
probably benign |
0.08 |
R6772:Prl6a1
|
UTSW |
13 |
27,503,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R7411:Prl6a1
|
UTSW |
13 |
27,502,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R7501:Prl6a1
|
UTSW |
13 |
27,500,282 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7549:Prl6a1
|
UTSW |
13 |
27,502,954 (GRCm39) |
missense |
probably damaging |
0.96 |
R7563:Prl6a1
|
UTSW |
13 |
27,498,221 (GRCm39) |
critical splice donor site |
probably null |
|
R7773:Prl6a1
|
UTSW |
13 |
27,502,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Prl6a1
|
UTSW |
13 |
27,502,678 (GRCm39) |
intron |
probably benign |
|
R8994:Prl6a1
|
UTSW |
13 |
27,499,417 (GRCm39) |
missense |
probably benign |
0.01 |
R9129:Prl6a1
|
UTSW |
13 |
27,502,064 (GRCm39) |
missense |
|
|
R9395:Prl6a1
|
UTSW |
13 |
27,499,400 (GRCm39) |
missense |
possibly damaging |
0.71 |
Z1177:Prl6a1
|
UTSW |
13 |
27,499,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-12 |