Incidental Mutation 'R5616:Pelp1'
| ID |
439538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pelp1
|
| Ensembl Gene |
ENSMUSG00000018921 |
| Gene Name |
proline, glutamic acid and leucine rich protein 1 |
| Synonyms |
4930563C04Rik, MNAR |
| MMRRC Submission |
043159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R5616 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70283709-70300857 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70285688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 727
(P727S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019065]
|
| AlphaFold |
Q9DBD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019065
AA Change: P727S
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000019065
Gene: ENSMUSG00000018921
AA Change: P727S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
45 |
N/A |
INTRINSIC |
|
Pfam:RIX1
|
63 |
232 |
7.5e-30 |
PFAM |
|
low complexity region
|
264 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
386 |
N/A |
INTRINSIC |
|
Pfam:NUC202
|
424 |
490 |
8.6e-30 |
PFAM |
|
Pfam:NUC202
|
570 |
644 |
6e-19 |
PFAM |
|
low complexity region
|
748 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
834 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
877 |
N/A |
INTRINSIC |
|
SCOP:d1sig__
|
892 |
958 |
9e-6 |
SMART |
|
low complexity region
|
974 |
989 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1021 |
N/A |
INTRINSIC |
|
low complexity region
|
1070 |
1090 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,175 (GRCm39) |
V271E |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,500,722 (GRCm39) |
R707H |
probably damaging |
Het |
| Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
| Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
| Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,410,517 (GRCm39) |
V273E |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
| Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,366 (GRCm39) |
V60A |
probably benign |
Het |
| Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
| Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
| Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
| Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,921,937 (GRCm39) |
E406G |
probably damaging |
Het |
| Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,084 (GRCm39) |
I162V |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pelp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Pelp1
|
APN |
11 |
70,285,638 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00819:Pelp1
|
APN |
11 |
70,285,444 (GRCm39) |
missense |
unknown |
|
|
IGL01017:Pelp1
|
APN |
11 |
70,287,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01347:Pelp1
|
APN |
11 |
70,286,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01460:Pelp1
|
APN |
11 |
70,284,790 (GRCm39) |
missense |
unknown |
|
|
IGL02022:Pelp1
|
APN |
11 |
70,297,153 (GRCm39) |
splice site |
probably benign |
|
|
IGL02188:Pelp1
|
APN |
11 |
70,300,718 (GRCm39) |
missense |
unknown |
|
|
ANU74:Pelp1
|
UTSW |
11 |
70,285,913 (GRCm39) |
missense |
probably damaging |
0.97 |
|
F5770:Pelp1
|
UTSW |
11 |
70,288,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0056:Pelp1
|
UTSW |
11 |
70,284,658 (GRCm39) |
missense |
unknown |
|
|
R0201:Pelp1
|
UTSW |
11 |
70,286,530 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0637:Pelp1
|
UTSW |
11 |
70,286,530 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0879:Pelp1
|
UTSW |
11 |
70,286,123 (GRCm39) |
splice site |
probably benign |
|
|
R1073:Pelp1
|
UTSW |
11 |
70,287,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Pelp1
|
UTSW |
11 |
70,285,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Pelp1
|
UTSW |
11 |
70,284,541 (GRCm39) |
splice site |
probably null |
|
|
R1958:Pelp1
|
UTSW |
11 |
70,289,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3613:Pelp1
|
UTSW |
11 |
70,286,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3722:Pelp1
|
UTSW |
11 |
70,289,026 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4176:Pelp1
|
UTSW |
11 |
70,287,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Pelp1
|
UTSW |
11 |
70,285,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5253:Pelp1
|
UTSW |
11 |
70,292,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Pelp1
|
UTSW |
11 |
70,287,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5938:Pelp1
|
UTSW |
11 |
70,285,693 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6461:Pelp1
|
UTSW |
11 |
70,287,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Pelp1
|
UTSW |
11 |
70,287,425 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7625:Pelp1
|
UTSW |
11 |
70,286,260 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7694:Pelp1
|
UTSW |
11 |
70,285,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Pelp1
|
UTSW |
11 |
70,285,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Pelp1
|
UTSW |
11 |
70,285,146 (GRCm39) |
missense |
unknown |
|
|
R8719:Pelp1
|
UTSW |
11 |
70,292,789 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8910:Pelp1
|
UTSW |
11 |
70,287,461 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8918:Pelp1
|
UTSW |
11 |
70,296,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9632:Pelp1
|
UTSW |
11 |
70,284,835 (GRCm39) |
missense |
unknown |
|
|
V7580:Pelp1
|
UTSW |
11 |
70,288,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7581:Pelp1
|
UTSW |
11 |
70,288,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7582:Pelp1
|
UTSW |
11 |
70,288,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7583:Pelp1
|
UTSW |
11 |
70,288,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Pelp1
|
UTSW |
11 |
70,287,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pelp1
|
UTSW |
11 |
70,287,920 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCGCTTTCCAAGGAGATCTC -3'
(R):5'- TGAGGCCCCATCTTCATTCAG -3'
Sequencing Primer
(F):5'- GCTTTCCAAGGAGATCTCTACATCAG -3'
(R):5'- ATCTTCATTCAGGGCCCCGG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation