Incidental Mutation 'R0419:Esrp2'
| ID |
36927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrp2
|
| Ensembl Gene |
ENSMUSG00000084128 |
| Gene Name |
epithelial splicing regulatory protein 2 |
| Synonyms |
9530027K23Rik, Rbm35b |
| MMRRC Submission |
038621-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0419 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106856951-106863606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106861307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 164
(E164G)
|
| 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: E164G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: E164G
| 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: E164G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
AA Change: E164G
| 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: ENSMUST00000142050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140509
|
| Meta Mutation Damage Score |
0.2401 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
| 5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
| Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
| Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
| BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
| Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
| Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,244,373 (GRCm39) |
T472I |
probably benign |
Het |
| Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,884,207 (GRCm39) |
I500V |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,225 (GRCm39) |
R224Q |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
| Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,463 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
| Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
| Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
| Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
| Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
| Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
| Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
| Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,519 (GRCm39) |
V32A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAAGCAGGGCAAGAATCTTAC -3'
(R):5'- CAGGAAGGTATGTCATTGAGGGCAC -3'
Sequencing Primer
(F):5'- CCATTGGACCCTTCAAGTAGGTG -3'
(R):5'- TCATTGAGGGCACATGGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation