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) question?
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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