Incidental Mutation 'R7713:Esrp2'
| ID |
594733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esrp2
|
| Ensembl Gene |
ENSMUSG00000084128 |
| Gene Name |
epithelial splicing regulatory protein 2 |
| Synonyms |
9530027K23Rik, Rbm35b |
| MMRRC Submission |
045771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106856951-106863606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106860908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 205
(T205A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111639
(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 benign
Transcript: ENSMUST00000115979
AA Change: T205A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: T205A
| 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 |
probably benign
Transcript: ENSMUST00000146940
AA Change: T205A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
AA Change: T205A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
| Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
| D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
| Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
| G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
| Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
| Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
| Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
| Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
| Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
| Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
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 |
|
R5678:Esrp2
|
UTSW |
8 |
106,858,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5947:Esrp2
|
UTSW |
8 |
106,859,565 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TGGCTTCGAGAACAACTGAC -3'
(R):5'- AGGTACATGTATGAACTGGGCC -3'
Sequencing Primer
(F):5'- TGGAGGAAGTCTCTCCACCAAG -3'
(R):5'- TGTATGAACTGGGCCACAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation