Incidental Mutation 'IGL01527:Esrp2'
ID |
89608 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Esrp2
|
Ensembl Gene |
ENSMUSG00000084128 |
Gene Name |
epithelial splicing regulatory protein 2 |
Synonyms |
9530027K23Rik, Rbm35b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01527
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106856951-106863606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106858865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 591
(T591A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109308]
[ENSMUST00000115979]
[ENSMUST00000146940]
[ENSMUST00000212742]
[ENSMUST00000211991]
|
AlphaFold |
Q8K0G8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109308
|
SMART Domains |
Protein: ENSMUSP00000104931 Gene: ENSMUSG00000031902
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
182 |
N/A |
INTRINSIC |
low complexity region
|
205 |
225 |
N/A |
INTRINSIC |
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
Pfam:RHD_DNA_bind
|
434 |
593 |
4.9e-25 |
PFAM |
IPT
|
600 |
699 |
1.19e-20 |
SMART |
low complexity region
|
713 |
722 |
N/A |
INTRINSIC |
low complexity region
|
917 |
938 |
N/A |
INTRINSIC |
low complexity region
|
954 |
967 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115979
AA Change: T591A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000111639 Gene: ENSMUSG00000084128 AA Change: T591A
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
RRM
|
248 |
320 |
2.58e-1 |
SMART |
RRM
|
349 |
424 |
2.67e-2 |
SMART |
low complexity region
|
439 |
459 |
N/A |
INTRINSIC |
RRM
|
466 |
541 |
4.17e-3 |
SMART |
low complexity region
|
549 |
575 |
N/A |
INTRINSIC |
low complexity region
|
593 |
614 |
N/A |
INTRINSIC |
low complexity region
|
644 |
660 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131020
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139319
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146940
AA Change: T590A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123114 Gene: ENSMUSG00000084128 AA Change: T590A
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
RRM
|
247 |
319 |
2.58e-1 |
SMART |
RRM
|
348 |
423 |
2.67e-2 |
SMART |
low complexity region
|
438 |
458 |
N/A |
INTRINSIC |
RRM
|
465 |
540 |
4.17e-3 |
SMART |
low complexity region
|
548 |
574 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145343
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142050
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211991
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150527
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140509
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155164
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] PHENOTYPE: Homozygous null mice exhibit defects in hepatic maturation, and decreased serum albumin levels and total serum protein levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
G |
T |
17: 35,878,730 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,240,788 (GRCm39) |
W884R |
possibly damaging |
Het |
Ahi1 |
T |
C |
10: 20,835,984 (GRCm39) |
|
probably benign |
Het |
Ankfn1 |
G |
T |
11: 89,282,465 (GRCm39) |
P394Q |
probably benign |
Het |
Cacnb2 |
T |
C |
2: 14,989,081 (GRCm39) |
I393T |
possibly damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,778,880 (GRCm39) |
E269G |
probably damaging |
Het |
Cyp24a1 |
A |
G |
2: 170,338,486 (GRCm39) |
L70P |
probably damaging |
Het |
Cyp8b1 |
T |
C |
9: 121,744,061 (GRCm39) |
K424E |
probably damaging |
Het |
Dicer1 |
G |
A |
12: 104,657,869 (GRCm39) |
Q1902* |
probably null |
Het |
Dst |
T |
A |
1: 34,286,734 (GRCm39) |
L544Q |
probably damaging |
Het |
Gap43 |
C |
T |
16: 42,112,516 (GRCm39) |
E82K |
probably benign |
Het |
Ift70a1 |
T |
C |
2: 75,810,860 (GRCm39) |
I408V |
probably benign |
Het |
Kif17 |
G |
A |
4: 137,996,397 (GRCm39) |
V125I |
probably benign |
Het |
Lancl2 |
T |
C |
6: 57,709,307 (GRCm39) |
S370P |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,386,953 (GRCm39) |
I203V |
possibly damaging |
Het |
Mphosph9 |
A |
G |
5: 124,421,687 (GRCm39) |
|
probably benign |
Het |
Ncapg |
A |
G |
5: 45,829,726 (GRCm39) |
I143V |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,619,690 (GRCm39) |
V199A |
probably benign |
Het |
Obscn |
T |
A |
11: 58,955,243 (GRCm39) |
N3890I |
possibly damaging |
Het |
Or2g7 |
A |
G |
17: 38,378,986 (GRCm39) |
N308S |
probably benign |
Het |
Or2h2c |
A |
T |
17: 37,422,701 (GRCm39) |
Y58N |
probably damaging |
Het |
Or52n5 |
T |
A |
7: 104,588,198 (GRCm39) |
V155E |
possibly damaging |
Het |
Or8g32 |
A |
G |
9: 39,305,114 (GRCm39) |
H6R |
probably benign |
Het |
Palmd |
C |
A |
3: 116,720,837 (GRCm39) |
E166* |
probably null |
Het |
Pdzd2 |
T |
C |
15: 12,445,750 (GRCm39) |
E327G |
probably damaging |
Het |
Pex13 |
T |
C |
11: 23,606,111 (GRCm39) |
T40A |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,646,750 (GRCm39) |
|
probably benign |
Het |
Plb1 |
A |
G |
5: 32,474,467 (GRCm39) |
T643A |
probably damaging |
Het |
Prlr |
T |
A |
15: 10,329,257 (GRCm39) |
D577E |
probably benign |
Het |
Rimoc1 |
T |
C |
15: 4,018,165 (GRCm39) |
Y170C |
probably damaging |
Het |
Slc44a3 |
A |
G |
3: 121,320,777 (GRCm39) |
C75R |
probably damaging |
Het |
Susd6 |
A |
T |
12: 80,921,093 (GRCm39) |
N230I |
possibly damaging |
Het |
Tbx10 |
A |
G |
19: 4,048,227 (GRCm39) |
R251G |
probably damaging |
Het |
Uap1l1 |
A |
G |
2: 25,253,816 (GRCm39) |
|
probably null |
Het |
Ugt2b5 |
A |
G |
5: 87,284,068 (GRCm39) |
V308A |
possibly damaging |
Het |
Usp28 |
C |
A |
9: 48,937,173 (GRCm39) |
H147Q |
probably benign |
Het |
Vmn1r203 |
T |
C |
13: 22,708,447 (GRCm39) |
I76T |
possibly damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,263,158 (GRCm39) |
I101T |
possibly damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,601,006 (GRCm39) |
L768H |
probably damaging |
Het |
|
Other mutations in Esrp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0419:Esrp2
|
UTSW |
8 |
106,861,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Esrp2
|
UTSW |
8 |
106,860,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Esrp2
|
UTSW |
8 |
106,860,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1528:Esrp2
|
UTSW |
8 |
106,863,384 (GRCm39) |
missense |
unknown |
|
R1598:Esrp2
|
UTSW |
8 |
106,859,905 (GRCm39) |
missense |
probably damaging |
0.97 |
R1817:Esrp2
|
UTSW |
8 |
106,861,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Esrp2
|
UTSW |
8 |
106,858,453 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1886:Esrp2
|
UTSW |
8 |
106,860,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R2323:Esrp2
|
UTSW |
8 |
106,860,934 (GRCm39) |
missense |
probably benign |
0.27 |
R3761:Esrp2
|
UTSW |
8 |
106,860,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R4598:Esrp2
|
UTSW |
8 |
106,859,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Esrp2
|
UTSW |
8 |
106,859,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R5091:Esrp2
|
UTSW |
8 |
106,859,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R5114:Esrp2
|
UTSW |
8 |
106,858,820 (GRCm39) |
missense |
probably benign |
0.42 |
R5162:Esrp2
|
UTSW |
8 |
106,859,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R5678:Esrp2
|
UTSW |
8 |
106,858,750 (GRCm39) |
missense |
probably damaging |
0.97 |
R5947:Esrp2
|
UTSW |
8 |
106,859,565 (GRCm39) |
unclassified |
probably benign |
|
R7713:Esrp2
|
UTSW |
8 |
106,860,908 (GRCm39) |
missense |
probably benign |
0.01 |
R7760:Esrp2
|
UTSW |
8 |
106,860,102 (GRCm39) |
missense |
probably benign |
0.03 |
R8348:Esrp2
|
UTSW |
8 |
106,858,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Esrp2
|
UTSW |
8 |
106,858,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8494:Esrp2
|
UTSW |
8 |
106,861,350 (GRCm39) |
missense |
probably damaging |
0.96 |
R9245:Esrp2
|
UTSW |
8 |
106,858,775 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Posted On |
2013-12-03 |