Incidental Mutation 'R5678:Esrp2'
| ID |
442888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrp2
|
| Ensembl Gene |
ENSMUSG00000084128 |
| Gene Name |
epithelial splicing regulatory protein 2 |
| Synonyms |
9530027K23Rik, Rbm35b |
| MMRRC Submission |
043317-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5678 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106856951-106863606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106858750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 629
(A629V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109308]
[ENSMUST00000115979]
[ENSMUST00000211991]
[ENSMUST00000212742]
[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: A629V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: A629V
| 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 |
noncoding transcript
Transcript: ENSMUST00000140509
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146940
|
| SMART Domains |
Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
| 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 |
|
| Meta Mutation Damage Score |
0.2446 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
C |
11: 23,466,529 (GRCm39) |
T168A |
probably damaging |
Het |
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| A530016L24Rik |
T |
G |
12: 112,463,306 (GRCm39) |
C43W |
probably damaging |
Het |
| Aatk |
T |
C |
11: 119,900,980 (GRCm39) |
T1082A |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,945,887 (GRCm39) |
F7I |
probably benign |
Het |
| Adgb |
T |
G |
10: 10,307,070 (GRCm39) |
S299R |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,041,494 (GRCm39) |
F738L |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,409 (GRCm39) |
Y51H |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,833,540 (GRCm39) |
Q2597* |
probably null |
Het |
| Atrn |
T |
C |
2: 130,811,936 (GRCm39) |
V627A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,947,317 (GRCm39) |
K1111E |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,398 (GRCm39) |
S67P |
possibly damaging |
Het |
| Cd164 |
T |
C |
10: 41,395,948 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
C |
9: 15,234,154 (GRCm39) |
D2214G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,284,199 (GRCm39) |
Y589C |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,536,239 (GRCm39) |
A998V |
unknown |
Het |
| Csrnp2 |
T |
C |
15: 100,379,685 (GRCm39) |
*535W |
probably null |
Het |
| Dhrs7 |
C |
T |
12: 72,704,106 (GRCm39) |
G130D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,677,074 (GRCm39) |
T477A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,592,100 (GRCm39) |
F725S |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,381,029 (GRCm39) |
V508A |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,879,053 (GRCm39) |
E595G |
probably damaging |
Het |
| Epha6 |
A |
T |
16: 59,639,342 (GRCm39) |
V844E |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,483,172 (GRCm39) |
S1009P |
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,894,706 (GRCm39) |
I28N |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,207 (GRCm39) |
E4G |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,310,855 (GRCm39) |
V455A |
probably damaging |
Het |
| Lamtor2 |
A |
G |
3: 88,458,101 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,156,855 (GRCm39) |
C92R |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,098,266 (GRCm39) |
V1406A |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,199 (GRCm39) |
V31A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,447,625 (GRCm39) |
F304L |
probably benign |
Het |
| Or4c108 |
A |
T |
2: 88,803,317 (GRCm39) |
L306* |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,979 (GRCm39) |
E43G |
possibly damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,691,135 (GRCm39) |
E2G |
unknown |
Het |
| Setd2 |
A |
G |
9: 110,431,254 (GRCm39) |
T5A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,300,249 (GRCm39) |
I40T |
probably damaging |
Het |
| Srpk2 |
TCA |
T |
5: 23,729,604 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,783,397 (GRCm39) |
|
probably null |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,933 (GRCm39) |
Q791L |
unknown |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,719,319 (GRCm39) |
D1989G |
unknown |
Het |
| Utp20 |
A |
T |
10: 88,644,979 (GRCm39) |
H582Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,317,762 (GRCm39) |
I554T |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,110,425 (GRCm39) |
R372* |
probably null |
Het |
| Zfp119a |
T |
C |
17: 56,175,336 (GRCm39) |
E53G |
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 |
|
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 |
|
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'- TGAACCCTCTGCCTCTACAGTG -3'
(R):5'- TGACTGTGGGCTCTCTATAATG -3'
Sequencing Primer
(F):5'- ACAGTGATATCCTCAGTCTGTTGGC -3'
(R):5'- GACTGTGGGCTCTCTATAATGTACTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation