Incidental Mutation 'R3761:Esrp2'
| ID |
270537 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106856951-106863606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106860254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 301
(D301G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109308]
[ENSMUST00000115979]
[ENSMUST00000146940]
|
| 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 damaging
Transcript: ENSMUST00000115979
AA Change: D302G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: D302G
| 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 |
noncoding transcript
Transcript: ENSMUST00000139559
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146940
AA Change: D301G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
AA Change: D301G
| 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: ENSMUST00000155164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140509
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
G |
9: 110,727,202 (GRCm39) |
T923A |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,464,200 (GRCm39) |
D216V |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,434,835 (GRCm39) |
V360A |
possibly damaging |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Eif3e |
C |
T |
15: 43,124,480 (GRCm39) |
R346H |
probably damaging |
Het |
| Fam174a |
G |
T |
1: 95,241,971 (GRCm39) |
V144F |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,287,169 (GRCm39) |
W135R |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,137,071 (GRCm39) |
S150P |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,300,093 (GRCm39) |
L400S |
possibly damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,662 (GRCm39) |
I226N |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,585,258 (GRCm39) |
F2776S |
probably benign |
Het |
| Sema3d |
T |
C |
5: 12,621,004 (GRCm39) |
Y537H |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,372,750 (GRCm39) |
V639A |
probably benign |
Het |
| Slc39a10 |
A |
G |
1: 46,851,285 (GRCm39) |
V735A |
possibly damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,800 (GRCm39) |
Y268N |
probably benign |
Het |
| Tmco5 |
A |
G |
2: 116,717,787 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,631,085 (GRCm39) |
H649Q |
probably damaging |
Het |
|
| Other mutations in Esrp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01527:Esrp2
|
APN |
8 |
106,858,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCTATGGGCACACTCAC -3'
(R):5'- TGGCAATCATCAGACCAGG -3'
Sequencing Primer
(F):5'- ACCCCCTGCAATCTTTACGAATTC -3'
(R):5'- GCTCGATTCTTCAAAGGGCTCAAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation