Incidental Mutation 'R5562:Nherf2'
| ID |
436682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nherf2
|
| Ensembl Gene |
ENSMUSG00000002504 |
| Gene Name |
NHERF family PDZ scaffold protein 2 |
| Synonyms |
2010007A20Rik, Slc9a3r2, 1200011K07Rik, Tka-1, Sip-1, Sip1, Octs2, E3karp, Nherf2, Sryip1, 0610011L07Rik |
| MMRRC Submission |
043119-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24858255-24869279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24860798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 137
(V137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002572]
[ENSMUST00000019684]
[ENSMUST00000047611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002572
AA Change: V248A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504
AA Change: V248A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
19 |
91 |
6.31e-21 |
SMART |
|
PDZ
|
159 |
231 |
8.79e-20 |
SMART |
|
Pfam:EBP50_C
|
232 |
284 |
5.1e-13 |
PFAM |
|
Pfam:EBP50_C
|
261 |
337 |
2.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019684
AA Change: V137A
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504
AA Change: V137A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
48 |
120 |
8.79e-20 |
SMART |
|
Pfam:EBP50_C-term
|
186 |
226 |
2.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047611
|
| SMART Domains |
Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
ENDO3c
|
126 |
276 |
1.06e-58 |
SMART |
|
FES
|
277 |
297 |
4.82e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal and display normal cAMP- and cGMP-activated CFTR transepithelial chloride transport and bicarbonate secretion in the small intestine. [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 |
|---|
| Aldh1a7 |
G |
A |
19: 20,679,628 (GRCm39) |
Q383* |
probably null |
Het |
| Alkbh3 |
A |
T |
2: 93,826,724 (GRCm39) |
|
probably null |
Het |
| Amotl1 |
G |
A |
9: 14,486,593 (GRCm39) |
P434S |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,214,971 (GRCm39) |
E1641G |
probably damaging |
Het |
| Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
| C7 |
A |
T |
15: 5,061,397 (GRCm39) |
Y317* |
probably null |
Het |
| Car4 |
A |
T |
11: 84,854,924 (GRCm39) |
M91L |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,785,266 (GRCm39) |
D98G |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,036,678 (GRCm39) |
M493V |
probably damaging |
Het |
| Cdhr3 |
C |
G |
12: 33,101,054 (GRCm39) |
R452T |
probably benign |
Het |
| Col6a2 |
G |
A |
10: 76,435,509 (GRCm39) |
Q909* |
probably null |
Het |
| Cyp2j8 |
A |
G |
4: 96,358,890 (GRCm39) |
I343T |
probably damaging |
Het |
| Dcstamp |
G |
A |
15: 39,617,798 (GRCm39) |
C69Y |
possibly damaging |
Het |
| Dnaaf8 |
C |
A |
16: 4,791,940 (GRCm39) |
|
noncoding transcript |
Het |
| Efhc1 |
C |
T |
1: 21,043,104 (GRCm39) |
T341I |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,338,772 (GRCm39) |
*276Q |
probably null |
Het |
| Fnip1 |
T |
A |
11: 54,380,168 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
G |
13: 31,991,573 (GRCm39) |
H128R |
probably damaging |
Het |
| Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Kif15 |
A |
T |
9: 122,807,081 (GRCm39) |
Q44H |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,283,917 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,400,975 (GRCm39) |
I530T |
unknown |
Het |
| Ncoa4-ps |
T |
A |
12: 119,225,957 (GRCm39) |
|
noncoding transcript |
Het |
| Nudt7 |
C |
A |
8: 114,874,723 (GRCm39) |
A93D |
probably damaging |
Het |
| Or5w1b |
T |
C |
2: 87,476,063 (GRCm39) |
I135V |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,024 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prnp |
A |
G |
2: 131,778,951 (GRCm39) |
D201G |
probably damaging |
Het |
| Serinc1 |
G |
A |
10: 57,400,147 (GRCm39) |
Q167* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,865 (GRCm39) |
V35A |
probably damaging |
Het |
| Slc30a6 |
C |
T |
17: 74,719,700 (GRCm39) |
T220I |
possibly damaging |
Het |
| Slc7a7 |
T |
A |
14: 54,646,269 (GRCm39) |
M65L |
probably benign |
Het |
| Speg |
T |
A |
1: 75,403,700 (GRCm39) |
L2627Q |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,552 (GRCm39) |
T363A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,389,029 (GRCm39) |
L478Q |
probably damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,317 (GRCm39) |
M123L |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,773 (GRCm39) |
V118A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,600,803 (GRCm39) |
Y17114N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,474,291 (GRCm39) |
T214A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,308,414 (GRCm39) |
V2021E |
probably damaging |
Het |
| Utp4 |
G |
A |
8: 107,649,557 (GRCm39) |
D669N |
probably benign |
Het |
| Zfp560 |
G |
T |
9: 20,261,883 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp64 |
A |
G |
2: 168,767,642 (GRCm39) |
S657P |
probably benign |
Het |
|
| Other mutations in Nherf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02676:Nherf2
|
APN |
17 |
24,860,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Nherf2
|
UTSW |
17 |
24,860,693 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2199:Nherf2
|
UTSW |
17 |
24,859,570 (GRCm39) |
missense |
probably null |
0.37 |
|
R2912:Nherf2
|
UTSW |
17 |
24,861,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Nherf2
|
UTSW |
17 |
24,863,873 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R5352:Nherf2
|
UTSW |
17 |
24,861,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Nherf2
|
UTSW |
17 |
24,860,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Nherf2
|
UTSW |
17 |
24,863,851 (GRCm39) |
missense |
probably benign |
|
|
R7231:Nherf2
|
UTSW |
17 |
24,869,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Nherf2
|
UTSW |
17 |
24,869,182 (GRCm39) |
start gained |
probably benign |
|
|
R7539:Nherf2
|
UTSW |
17 |
24,860,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8276:Nherf2
|
UTSW |
17 |
24,861,234 (GRCm39) |
nonsense |
probably null |
|
|
R8750:Nherf2
|
UTSW |
17 |
24,861,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8875:Nherf2
|
UTSW |
17 |
24,866,703 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8913:Nherf2
|
UTSW |
17 |
24,863,839 (GRCm39) |
missense |
probably benign |
|
|
R9594:Nherf2
|
UTSW |
17 |
24,868,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCTTCTATCATGTCTGG -3'
(R):5'- TAGGCCTTTCTGACCCTGTGTG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TGTGTGGGTGGCGGCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation