Incidental Mutation 'R0708:Prl8a8'
| ID |
63865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl8a8
|
| Ensembl Gene |
ENSMUSG00000021346 |
| Gene Name |
prolactin family 8, subfamily a, member 81 |
| Synonyms |
1600032B14Rik, Prlpc3, PLP-Cgamma |
| MMRRC Submission |
038891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0708 (G1)
|
| Quality Score |
95 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
27690951-27697200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27695528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 72
(M72K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018389]
[ENSMUST00000110350]
[ENSMUST00000223621]
[ENSMUST00000224072]
|
| AlphaFold |
Q9DAS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018389
AA Change: M34K
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000018389
Gene: ENSMUSG00000021346
AA Change: M34K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
240 |
2.8e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110350
AA Change: M35K
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105979
Gene: ENSMUSG00000021346
AA Change: M35K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
17 |
241 |
3.1e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223621
AA Change: M73K
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224072
AA Change: M72K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
A |
T |
5: 107,506,766 (GRCm39) |
K450* |
probably null |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,276,342 (GRCm39) |
Q750L |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,189,605 (GRCm39) |
S14R |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,830,352 (GRCm39) |
N319S |
probably benign |
Het |
| Frs2 |
G |
A |
10: 116,909,997 (GRCm39) |
T455M |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
T |
C |
1: 75,419,218 (GRCm39) |
F375S |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,424,526 (GRCm39) |
|
probably null |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Insc |
T |
A |
7: 114,444,381 (GRCm39) |
V456E |
probably damaging |
Het |
| Ints14 |
G |
A |
9: 64,891,266 (GRCm39) |
V416I |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,647,152 (GRCm39) |
F29L |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,765,673 (GRCm39) |
L79F |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,788,571 (GRCm39) |
V33E |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,597,368 (GRCm39) |
I224N |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,614,616 (GRCm39) |
F111L |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,990,992 (GRCm39) |
D291G |
probably null |
Het |
| Ptpn7 |
C |
A |
1: 135,062,285 (GRCm39) |
T77K |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,251 (GRCm39) |
S462P |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,866,755 (GRCm39) |
V245A |
probably benign |
Het |
| Sgcb |
A |
T |
5: 73,798,225 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
T |
A |
9: 64,855,172 (GRCm39) |
K578N |
unknown |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Tecr |
A |
T |
8: 84,299,738 (GRCm39) |
I101N |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,179,984 (GRCm39) |
F277L |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,586,152 (GRCm39) |
L343H |
probably benign |
Het |
| Thbs4 |
C |
A |
13: 92,909,694 (GRCm39) |
G368W |
probably damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,123 (GRCm39) |
S222G |
possibly damaging |
Het |
|
| Other mutations in Prl8a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Prl8a8
|
APN |
13 |
27,693,593 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0117:Prl8a8
|
UTSW |
13 |
27,692,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0515:Prl8a8
|
UTSW |
13 |
27,692,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0602:Prl8a8
|
UTSW |
13 |
27,692,533 (GRCm39) |
splice site |
probably benign |
|
|
R1824:Prl8a8
|
UTSW |
13 |
27,692,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Prl8a8
|
UTSW |
13 |
27,695,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Prl8a8
|
UTSW |
13 |
27,694,463 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6107:Prl8a8
|
UTSW |
13 |
27,695,447 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6146:Prl8a8
|
UTSW |
13 |
27,694,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6398:Prl8a8
|
UTSW |
13 |
27,692,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Prl8a8
|
UTSW |
13 |
27,691,335 (GRCm39) |
nonsense |
probably null |
|
|
R7069:Prl8a8
|
UTSW |
13 |
27,695,450 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7104:Prl8a8
|
UTSW |
13 |
27,695,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Prl8a8
|
UTSW |
13 |
27,695,418 (GRCm39) |
splice site |
probably null |
|
|
R8147:Prl8a8
|
UTSW |
13 |
27,695,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCACAGGGGTAATGGATACACAT -3'
(R):5'- GGCACTCAGTGCTTAGAGTGACTTGAT -3'
Sequencing Primer
(F):5'- Gtctctctctctctctctctctctc -3'
(R):5'- TAGCAGTGAAAAAAGGAAAATCAAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation