Incidental Mutation 'R0574:Prl8a2'
| ID |
46586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl8a2
|
| Ensembl Gene |
ENSMUSG00000018259 |
| Gene Name |
prolactin family 8, subfamily a, member 2 |
| Synonyms |
D/tPRP, DPRP, mdPRP, Dtprp |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
27529656-27538199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27532883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 32
(C32S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018403]
[ENSMUST00000110363]
|
| AlphaFold |
O54832 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018403
AA Change: C33S
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018403
Gene: ENSMUSG00000018259
AA Change: C33S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
240 |
6.4e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110363
AA Change: C32S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105992
Gene: ENSMUSG00000018259
AA Change: C32S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
15 |
239 |
2.1e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223918
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit reduced pregnancy success when exposed to hypoxic conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
probably benign |
Het |
|
| Other mutations in Prl8a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02654:Prl8a2
|
APN |
13 |
27,536,780 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03268:Prl8a2
|
APN |
13 |
27,537,938 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0557:Prl8a2
|
UTSW |
13 |
27,536,875 (GRCm39) |
nonsense |
probably null |
|
|
R1166:Prl8a2
|
UTSW |
13 |
27,537,935 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1401:Prl8a2
|
UTSW |
13 |
27,537,979 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1875:Prl8a2
|
UTSW |
13 |
27,535,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2420:Prl8a2
|
UTSW |
13 |
27,532,896 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4152:Prl8a2
|
UTSW |
13 |
27,534,985 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5285:Prl8a2
|
UTSW |
13 |
27,534,116 (GRCm39) |
splice site |
probably null |
|
|
R6452:Prl8a2
|
UTSW |
13 |
27,536,780 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6906:Prl8a2
|
UTSW |
13 |
27,532,900 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7217:Prl8a2
|
UTSW |
13 |
27,534,998 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7490:Prl8a2
|
UTSW |
13 |
27,536,753 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8170:Prl8a2
|
UTSW |
13 |
27,536,794 (GRCm39) |
missense |
probably benign |
|
|
R9099:Prl8a2
|
UTSW |
13 |
27,536,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9099:Prl8a2
|
UTSW |
13 |
27,536,793 (GRCm39) |
nonsense |
probably null |
|
|
R9244:Prl8a2
|
UTSW |
13 |
27,534,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTAAGCTGCACTGTCCTTGTCC -3'
(R):5'- CCCCTAGTATCAGTAGTTGGTGCCTC -3'
Sequencing Primer
(F):5'- CTGGACTAAGTGCTCACAGTG -3'
(R):5'- GTGCCTCTTTTACCTATGAAGATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation