Incidental Mutation 'R3079:Prl6a1'
ID |
265351 |
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 |
040569-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R3079 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
27496610-27503235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27502983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 193
(D193G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089269
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091679]
[ENSMUST00000091680]
|
AlphaFold |
O35257 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091679
AA Change: D198G
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000089268 Gene: ENSMUSG00000069259 AA Change: D198G
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
Pfam:Hormone_1
|
21 |
235 |
8e-65 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091680
AA Change: D193G
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000089269 Gene: ENSMUSG00000069259 AA Change: D193G
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
16 |
230 |
1.1e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119758
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
T |
15: 102,248,879 (GRCm39) |
L168H |
probably damaging |
Het |
Abca15 |
T |
C |
7: 119,984,392 (GRCm39) |
W1158R |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
Aqp11 |
A |
T |
7: 97,386,795 (GRCm39) |
C134S |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,296,501 (GRCm39) |
Y855H |
probably damaging |
Het |
Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
Cit |
A |
G |
5: 116,063,545 (GRCm39) |
D462G |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,631,422 (GRCm39) |
R1494G |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,611,750 (GRCm39) |
S109P |
possibly damaging |
Het |
Elp4 |
T |
C |
2: 105,639,790 (GRCm39) |
K130E |
possibly damaging |
Het |
Gemin5 |
A |
T |
11: 58,036,345 (GRCm39) |
V666E |
probably damaging |
Het |
Hba-x |
A |
G |
11: 32,227,616 (GRCm39) |
D62G |
probably damaging |
Het |
Hnrnpul1 |
A |
T |
7: 25,432,540 (GRCm39) |
Y474* |
probably null |
Het |
Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
Mrc2 |
T |
C |
11: 105,227,539 (GRCm39) |
S591P |
probably damaging |
Het |
Msh5 |
T |
C |
17: 35,265,208 (GRCm39) |
E48G |
probably benign |
Het |
Mybpc2 |
T |
C |
7: 44,155,505 (GRCm39) |
D916G |
probably damaging |
Het |
Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,794 (GRCm39) |
R236G |
probably benign |
Het |
Obsl1 |
G |
T |
1: 75,467,467 (GRCm39) |
R1436S |
probably damaging |
Het |
Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
Or51a7 |
C |
T |
7: 102,622,254 (GRCm39) |
|
probably null |
Het |
Padi2 |
T |
C |
4: 140,677,189 (GRCm39) |
V659A |
probably damaging |
Het |
Pnpla6 |
T |
G |
8: 3,591,512 (GRCm39) |
S1169A |
probably benign |
Het |
Pramel30 |
T |
G |
4: 144,058,098 (GRCm39) |
L235R |
probably damaging |
Het |
Rce1 |
G |
T |
19: 4,674,750 (GRCm39) |
C138* |
probably null |
Het |
Shoc1 |
G |
T |
4: 59,047,848 (GRCm39) |
T1257N |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,496,870 (GRCm39) |
T259A |
probably benign |
Het |
Slc66a1 |
G |
T |
4: 139,033,829 (GRCm39) |
A30D |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Slfn1 |
T |
C |
11: 83,011,986 (GRCm39) |
V34A |
probably benign |
Het |
Syt4 |
A |
G |
18: 31,574,738 (GRCm39) |
V293A |
probably benign |
Het |
Trh |
T |
C |
6: 92,219,551 (GRCm39) |
E255G |
possibly damaging |
Het |
Ube4a |
G |
T |
9: 44,871,371 (GRCm39) |
N9K |
probably damaging |
Het |
Uck1 |
A |
T |
2: 32,148,089 (GRCm39) |
|
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
Wbp2 |
C |
T |
11: 115,970,534 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
G |
1: 63,346,636 (GRCm39) |
I1672V |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCACACTACTTTGGCATAGAGAC -3'
(R):5'- GTATTACAGGGTGAAATGAGATGTC -3'
Sequencing Primer
(F):5'- CATCCCAAGAGTTCTTTCAA -3'
(R):5'- AGACATCAACATGTTTAAAGAGTCTG -3'
|
Posted On |
2015-02-05 |