Incidental Mutation 'R8276:Nherf2'
ID |
637999 |
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 |
067699-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8276 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24858255-24869279 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 24861234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 175
(Y175*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002572]
[ENSMUST00000019684]
[ENSMUST00000047611]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000002572
AA Change: Y175*
|
SMART Domains |
Protein: ENSMUSP00000002572 Gene: ENSMUSG00000002504 AA Change: Y175*
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 null
Transcript: ENSMUST00000019684
AA Change: Y64*
|
SMART Domains |
Protein: ENSMUSP00000019684 Gene: ENSMUSG00000002504 AA Change: Y64*
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (44/45) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,385,885 (GRCm39) |
R27W |
probably damaging |
Het |
Acbd5 |
A |
G |
2: 22,959,563 (GRCm39) |
D39G |
probably benign |
Het |
Amdhd2 |
C |
G |
17: 24,382,574 (GRCm39) |
R22P |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,814,531 (GRCm39) |
I325M |
probably benign |
Het |
Cyld |
A |
G |
8: 89,461,556 (GRCm39) |
I664M |
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,179,614 (GRCm39) |
M716T |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,505,998 (GRCm39) |
T1743S |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,399,092 (GRCm39) |
S947P |
probably benign |
Het |
Ep300 |
C |
G |
15: 81,534,229 (GRCm39) |
N2095K |
possibly damaging |
Het |
Evi2a |
T |
A |
11: 79,418,316 (GRCm39) |
N98I |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Far2 |
G |
T |
6: 148,075,399 (GRCm39) |
V420L |
probably benign |
Het |
Gng5 |
A |
G |
3: 146,206,258 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,098,968 (GRCm39) |
R1311* |
probably null |
Het |
Hhipl2 |
A |
T |
1: 183,217,328 (GRCm39) |
K478M |
possibly damaging |
Het |
Hs3st1 |
A |
T |
5: 39,772,146 (GRCm39) |
Y166N |
probably damaging |
Het |
Jcad |
T |
A |
18: 4,674,318 (GRCm39) |
S693R |
probably damaging |
Het |
Kcnmb3 |
A |
G |
3: 32,536,572 (GRCm39) |
L52P |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,751,880 (GRCm39) |
I254T |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,943,273 (GRCm39) |
K1644R |
possibly damaging |
Het |
Nlrp2 |
G |
A |
7: 5,320,494 (GRCm39) |
T881M |
probably benign |
Het |
Or11h23 |
T |
A |
14: 50,948,287 (GRCm39) |
S167T |
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,522 (GRCm39) |
Y132F |
probably damaging |
Het |
Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,506,484 (GRCm39) |
G1026D |
probably damaging |
Het |
Rbm46 |
A |
G |
3: 82,771,895 (GRCm39) |
V240A |
probably damaging |
Het |
Rrm1 |
G |
A |
7: 102,110,059 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,470,962 (GRCm39) |
D4637G |
probably damaging |
Het |
Selenos |
G |
A |
7: 65,729,552 (GRCm39) |
|
probably benign |
Het |
Serpina1e |
G |
T |
12: 103,913,428 (GRCm39) |
T364K |
probably damaging |
Het |
Shroom3 |
A |
T |
5: 93,088,339 (GRCm39) |
Q363L |
probably damaging |
Het |
Slc9b1 |
A |
C |
3: 135,077,658 (GRCm39) |
E139D |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 64,993,544 (GRCm39) |
|
probably benign |
Het |
Tmcc3 |
A |
T |
10: 94,418,170 (GRCm39) |
T344S |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,764,918 (GRCm39) |
S807T |
probably benign |
Het |
Trav7-6 |
A |
T |
14: 53,954,695 (GRCm39) |
H95L |
probably benign |
Het |
Trmu |
T |
A |
15: 85,766,932 (GRCm39) |
V47D |
possibly damaging |
Het |
Uba6 |
C |
A |
5: 86,290,509 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 102,968,122 (GRCm39) |
D116G |
possibly damaging |
Het |
Vmn2r93 |
G |
A |
17: 18,525,649 (GRCm39) |
|
probably null |
Het |
Zfp541 |
A |
T |
7: 15,813,009 (GRCm39) |
H554L |
possibly damaging |
Het |
Zfp618 |
A |
G |
4: 63,051,193 (GRCm39) |
H658R |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,948,051 (GRCm39) |
Y107N |
probably damaging |
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 |
R5562:Nherf2
|
UTSW |
17 |
24,860,798 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
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'- TATTCATCGAAGCCACCAGC -3'
(R):5'- ATGAAACCTGGGATTGGTTCC -3'
Sequencing Primer
(F):5'- GAAGCAAGAAGAGTGCCAGCTC -3'
(R):5'- AAACCTGGGATTGGTTCCTTAGAGC -3'
|
Posted On |
2020-07-28 |