Incidental Mutation 'R9395:Prl6a1'
ID |
710801 |
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 |
068965-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R9395 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
27496610-27503235 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27499400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 56
(H56L)
|
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: H61L
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000089268 Gene: ENSMUSG00000069259 AA Change: H61L
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: H56L
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000089269 Gene: ENSMUSG00000069259 AA Change: H56L
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
16 |
230 |
1.1e-61 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh7 |
A |
T |
3: 137,927,477 (GRCm39) |
I8F |
probably damaging |
Het |
Ak1 |
A |
G |
2: 32,523,708 (GRCm39) |
D207G |
probably damaging |
Het |
Arhgef28 |
TAA |
TA |
13: 98,103,692 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
Cgnl1 |
T |
C |
9: 71,539,954 (GRCm39) |
M1097V |
probably benign |
Het |
Chrm2 |
G |
A |
6: 36,501,196 (GRCm39) |
G351D |
possibly damaging |
Het |
Cntnap2 |
C |
A |
6: 45,978,244 (GRCm39) |
R300S |
probably damaging |
Het |
Cpa5 |
T |
C |
6: 30,631,280 (GRCm39) |
L398P |
probably damaging |
Het |
Csl |
T |
A |
10: 99,595,020 (GRCm39) |
N15I |
probably damaging |
Het |
Csrp3 |
A |
T |
7: 48,489,231 (GRCm39) |
V17D |
probably damaging |
Het |
Cyb5d1 |
T |
C |
11: 69,284,531 (GRCm39) |
N207S |
probably benign |
Het |
Ecel1 |
A |
T |
1: 87,082,350 (GRCm39) |
I121N |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,477,822 (GRCm39) |
S407P |
probably benign |
Het |
Gad2 |
T |
C |
2: 22,514,879 (GRCm39) |
L119P |
probably damaging |
Het |
Gpr139 |
A |
T |
7: 118,743,811 (GRCm39) |
M258K |
probably benign |
Het |
Hhipl1 |
A |
G |
12: 108,285,009 (GRCm39) |
Y454C |
probably damaging |
Het |
Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
Lpl |
T |
A |
8: 69,353,952 (GRCm39) |
I431N |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,274,584 (GRCm39) |
W1235R |
possibly damaging |
Het |
Nacc2 |
A |
G |
2: 25,950,128 (GRCm39) |
V536A |
probably damaging |
Het |
Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
Neu4 |
T |
A |
1: 93,950,218 (GRCm39) |
L59Q |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,946,871 (GRCm39) |
I4088F |
probably damaging |
Het |
Or8b37 |
T |
C |
9: 37,959,136 (GRCm39) |
V206A |
probably damaging |
Het |
Otof |
G |
A |
5: 30,532,976 (GRCm39) |
R1589C |
probably damaging |
Het |
Pla2g3 |
C |
T |
11: 3,440,952 (GRCm39) |
Q306* |
probably null |
Het |
Pramel12 |
A |
G |
4: 143,145,605 (GRCm39) |
E358G |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,735,219 (GRCm39) |
|
probably null |
Het |
Rims2 |
T |
A |
15: 39,155,664 (GRCm39) |
F115Y |
probably damaging |
Het |
Spcs2 |
T |
C |
7: 99,488,924 (GRCm39) |
T221A |
probably benign |
Het |
Stmn1 |
C |
T |
4: 134,200,146 (GRCm39) |
A73V |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,261,728 (GRCm39) |
K2250I |
probably damaging |
Het |
Tcf7l2 |
C |
T |
19: 55,920,200 (GRCm39) |
Q578* |
probably null |
Het |
Tgtp2 |
A |
T |
11: 48,950,083 (GRCm39) |
M163K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,542,006 (GRCm39) |
N33660S |
probably benign |
Het |
Txndc11 |
A |
G |
16: 10,902,683 (GRCm39) |
F655L |
probably benign |
Het |
Ubtf |
G |
A |
11: 102,205,026 (GRCm39) |
T86I |
probably damaging |
Het |
Vmn2r89 |
T |
A |
14: 51,693,783 (GRCm39) |
W378R |
probably damaging |
Het |
Zic1 |
T |
A |
9: 91,247,070 (GRCm39) |
M1L |
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 |
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 |
|
|
Z1177:Prl6a1
|
UTSW |
13 |
27,499,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGTGGTAGATGTTTTCTTACCAC -3'
(R):5'- CCCTTCTGAATTAAGGATGCTTTC -3'
Sequencing Primer
(F):5'- CCTCAAAGGAATGAATCTCATCCTAG -3'
(R):5'- CTTGGAGGCCCATTTTGT -3'
|
Posted On |
2022-04-18 |