Incidental Mutation 'R3079:Wbp2'
| ID |
265349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wbp2
|
| Ensembl Gene |
ENSMUSG00000034341 |
| Gene Name |
WW domain binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
040569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3079 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115969399-115977821 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 115970534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074628]
[ENSMUST00000075036]
[ENSMUST00000106444]
[ENSMUST00000106450]
[ENSMUST00000106451]
[ENSMUST00000173345]
[ENSMUST00000153408]
[ENSMUST00000156545]
[ENSMUST00000174822]
|
| AlphaFold |
P97765 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074628
|
| SMART Domains |
Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GRAM
|
1 |
84 |
1.2e-19 |
PFAM |
|
Pfam:WWbp
|
100 |
204 |
1.3e-20 |
PFAM |
|
low complexity region
|
247 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075036
|
| SMART Domains |
Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
C2
|
111 |
261 |
5.31e-11 |
SMART |
|
PDB:3SWH|B
|
585 |
735 |
8e-6 |
PDB |
|
low complexity region
|
738 |
751 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
785 |
892 |
1.9e-25 |
PFAM |
|
C2
|
923 |
1031 |
7.93e-10 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106444
|
| SMART Domains |
Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GRAM
|
1 |
84 |
2.3e-19 |
PFAM |
|
Pfam:WWbp
|
100 |
212 |
5.3e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106450
|
| SMART Domains |
Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
C2
|
111 |
261 |
5.31e-11 |
SMART |
|
PDB:3SWH|B
|
587 |
737 |
8e-6 |
PDB |
|
low complexity region
|
740 |
753 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
787 |
894 |
1.9e-25 |
PFAM |
|
C2
|
925 |
1033 |
7.93e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106451
|
| SMART Domains |
Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
C2
|
111 |
261 |
5.31e-11 |
SMART |
|
PDB:3SWH|B
|
587 |
737 |
8e-6 |
PDB |
|
low complexity region
|
740 |
753 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
788 |
838 |
7.1e-10 |
PFAM |
|
Pfam:Membr_traf_MHD
|
830 |
893 |
1.4e-15 |
PFAM |
|
C2
|
925 |
1033 |
7.93e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173345
|
| SMART Domains |
Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
C2
|
111 |
261 |
5.31e-11 |
SMART |
|
PDB:3SWH|B
|
587 |
737 |
5e-6 |
PDB |
|
low complexity region
|
740 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153408
|
| SMART Domains |
Protein: ENSMUSP00000115327
Gene: ENSMUSG00000057948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156545
|
| SMART Domains |
Protein: ENSMUSP00000118266
Gene: ENSMUSG00000057948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174822
|
| SMART Domains |
Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
C2
|
111 |
261 |
5.31e-11 |
SMART |
|
PDB:3SWH|B
|
585 |
735 |
8e-6 |
PDB |
|
low complexity region
|
738 |
751 |
N/A |
INTRINSIC |
|
Pfam:Membr_traf_MHD
|
785 |
892 |
1.9e-25 |
PFAM |
|
C2
|
923 |
1031 |
7.93e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a null allele show progressive high-frequency hearing loss, raised auditory brainstem response (ABR) thresholds, reduced ABR amplitudes, swelling of afferent terminals, inner hair cell synapse defects, and altered expression of AMPA receptor subunits and post-synaptic proteins. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,879 (GRCm39) |
L168H |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,984,392 (GRCm39) |
W1158R |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,386,795 (GRCm39) |
C134S |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,296,501 (GRCm39) |
Y855H |
probably damaging |
Het |
| Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,063,545 (GRCm39) |
D462G |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,631,422 (GRCm39) |
R1494G |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,611,750 (GRCm39) |
S109P |
possibly damaging |
Het |
| Elp4 |
T |
C |
2: 105,639,790 (GRCm39) |
K130E |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,036,345 (GRCm39) |
V666E |
probably damaging |
Het |
| Hba-x |
A |
G |
11: 32,227,616 (GRCm39) |
D62G |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,432,540 (GRCm39) |
Y474* |
probably null |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,227,539 (GRCm39) |
S591P |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,265,208 (GRCm39) |
E48G |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,155,505 (GRCm39) |
D916G |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,794 (GRCm39) |
R236G |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,467,467 (GRCm39) |
R1436S |
probably damaging |
Het |
| Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
| Or51a7 |
C |
T |
7: 102,622,254 (GRCm39) |
|
probably null |
Het |
| Padi2 |
T |
C |
4: 140,677,189 (GRCm39) |
V659A |
probably damaging |
Het |
| Pnpla6 |
T |
G |
8: 3,591,512 (GRCm39) |
S1169A |
probably benign |
Het |
| Pramel30 |
T |
G |
4: 144,058,098 (GRCm39) |
L235R |
probably damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,502,983 (GRCm39) |
D193G |
possibly damaging |
Het |
| Rce1 |
G |
T |
19: 4,674,750 (GRCm39) |
C138* |
probably null |
Het |
| Shoc1 |
G |
T |
4: 59,047,848 (GRCm39) |
T1257N |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,496,870 (GRCm39) |
T259A |
probably benign |
Het |
| Slc66a1 |
G |
T |
4: 139,033,829 (GRCm39) |
A30D |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn1 |
T |
C |
11: 83,011,986 (GRCm39) |
V34A |
probably benign |
Het |
| Syt4 |
A |
G |
18: 31,574,738 (GRCm39) |
V293A |
probably benign |
Het |
| Trh |
T |
C |
6: 92,219,551 (GRCm39) |
E255G |
possibly damaging |
Het |
| Ube4a |
G |
T |
9: 44,871,371 (GRCm39) |
N9K |
probably damaging |
Het |
| Uck1 |
A |
T |
2: 32,148,089 (GRCm39) |
|
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
G |
1: 63,346,636 (GRCm39) |
I1672V |
probably benign |
Het |
|
| Other mutations in Wbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Wbp2
|
APN |
11 |
115,972,066 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0006:Wbp2
|
UTSW |
11 |
115,970,614 (GRCm39) |
splice site |
probably null |
|
|
R0565:Wbp2
|
UTSW |
11 |
115,973,211 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1510:Wbp2
|
UTSW |
11 |
115,977,708 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1733:Wbp2
|
UTSW |
11 |
115,974,709 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1968:Wbp2
|
UTSW |
11 |
115,973,191 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1989:Wbp2
|
UTSW |
11 |
115,971,047 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2109:Wbp2
|
UTSW |
11 |
115,971,445 (GRCm39) |
nonsense |
probably null |
|
|
R2264:Wbp2
|
UTSW |
11 |
115,970,424 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4239:Wbp2
|
UTSW |
11 |
115,971,373 (GRCm39) |
unclassified |
probably benign |
|
|
R4647:Wbp2
|
UTSW |
11 |
115,973,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4831:Wbp2
|
UTSW |
11 |
115,971,463 (GRCm39) |
nonsense |
probably null |
|
|
R6146:Wbp2
|
UTSW |
11 |
115,974,728 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6367:Wbp2
|
UTSW |
11 |
115,974,741 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6455:Wbp2
|
UTSW |
11 |
115,970,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6823:Wbp2
|
UTSW |
11 |
115,977,736 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9216:Wbp2
|
UTSW |
11 |
115,974,724 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1088:Wbp2
|
UTSW |
11 |
115,977,739 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTATACTCAGGCCTGGGGAAGAAC -3'
(R):5'- TTCTCGCCTACAAATGGGCC -3'
Sequencing Primer
(F):5'- TGGAATCCCAGATGCAGC -3'
(R):5'- CTACAAATGGGCCTAGGAGCTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation