Incidental Mutation 'R5841:Nherf2'
ID 450469
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 044061-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5841 (G1)
Quality Score 220
Status Validated
Chromosome 17
Chromosomal Location 24858255-24869279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24863851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 8 (M8K)
Ref Sequence ENSEMBL: ENSMUSP00000019684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002572
SMART Domains Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504

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 benign
Transcript: ENSMUST00000019684
AA Change: M8K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504
AA Change: M8K

DomainStartEndE-ValueType
PDZ 48 120 8.79e-20 SMART
Pfam:EBP50_C-term 186 226 2.7e-27 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (67/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A T 1: 75,150,994 (GRCm39) F565L possibly damaging Het
Abhd6 T A 14: 8,049,596 (GRCm38) V188D probably benign Het
Bbs12 T G 3: 37,373,670 (GRCm39) N39K probably benign Het
Bend5 A G 4: 111,290,667 (GRCm39) Y221C probably damaging Het
Brd8 A G 18: 34,738,576 (GRCm39) S683P probably damaging Het
Caskin1 A G 17: 24,715,183 (GRCm39) D79G probably damaging Het
Cdyl T C 13: 36,056,544 (GRCm39) L509P probably damaging Het
Cenpf G T 1: 189,389,641 (GRCm39) T1397N possibly damaging Het
Ckap5 T A 2: 91,431,027 (GRCm39) M1479K probably benign Het
Cpsf2 T C 12: 101,951,497 (GRCm39) S145P probably damaging Het
Cyp4a12a A T 4: 115,183,899 (GRCm39) H235L probably benign Het
Cyp7b1 A T 3: 18,151,670 (GRCm39) F181Y probably damaging Het
Dennd5b T C 6: 148,946,253 (GRCm39) T453A probably benign Het
Dlgap3 A G 4: 127,089,193 (GRCm39) D263G probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dync2li1 G A 17: 84,940,990 (GRCm39) G69R probably damaging Het
Edc3 T C 9: 57,651,885 (GRCm39) V331A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ganc C T 2: 120,242,020 (GRCm39) T66I possibly damaging Het
Gm11595 C A 11: 99,663,143 (GRCm39) C179F unknown Het
Gnptg A G 17: 25,454,391 (GRCm39) S159P probably damaging Het
Gsdmc2 C T 15: 63,698,059 (GRCm39) V349I probably benign Het
Hydin T C 8: 111,259,846 (GRCm39) I2606T possibly damaging Het
Ino80d A G 1: 63,097,999 (GRCm39) S632P probably damaging Het
Kcnn2 G A 18: 45,692,463 (GRCm39) R13H probably benign Het
Klb A T 5: 65,536,667 (GRCm39) K666* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kpna7 T C 5: 144,930,766 (GRCm39) I360V possibly damaging Het
Lmbrd2 A G 15: 9,182,657 (GRCm39) K576E possibly damaging Het
Lrp2 T A 2: 69,310,497 (GRCm39) Y2692F probably benign Het
Meis2 T A 2: 115,889,145 (GRCm39) E202D probably benign Het
Mgat4c A T 10: 102,224,826 (GRCm39) T347S probably damaging Het
Mmp12 G A 9: 7,347,501 (GRCm39) C26Y possibly damaging Het
Mrpl24 G A 3: 87,830,292 (GRCm39) R145Q probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Mycbpap T A 11: 94,396,436 (GRCm39) R135W probably damaging Het
Myo1g T A 11: 6,457,000 (GRCm39) Y942F probably benign Het
Myrf T C 19: 10,200,911 (GRCm39) K52R probably null Het
Ncf2 A T 1: 152,697,269 (GRCm39) silent Het
Or51f1e T C 7: 102,747,161 (GRCm39) F71S probably damaging Het
Otx1 T C 11: 21,948,594 (GRCm39) probably benign Het
Pcnx1 T A 12: 81,965,429 (GRCm39) V532D possibly damaging Het
Pik3r5 T C 11: 68,383,096 (GRCm39) L305P probably damaging Het
Pira13 T A 7: 3,825,898 (GRCm39) R324* probably null Het
Polr3a A T 14: 24,500,766 (GRCm39) C1341S probably benign Het
Ppp1r3a T C 6: 14,718,983 (GRCm39) T644A probably benign Het
Pramel22 A G 4: 143,382,109 (GRCm39) S196P possibly damaging Het
Ptbp1 A G 10: 79,695,766 (GRCm39) D289G probably benign Het
Pwp2 A G 10: 78,007,952 (GRCm39) F868L probably benign Het
Rgs8 A G 1: 153,568,574 (GRCm39) E153G probably damaging Het
Rhbdf2 G A 11: 116,493,180 (GRCm39) probably benign Het
Sbf1 T C 15: 89,192,271 (GRCm39) H78R probably damaging Het
Sdr16c6 C T 4: 4,062,728 (GRCm39) A197T possibly damaging Het
Slc36a3 A T 11: 55,016,547 (GRCm39) Y349* probably null Het
Slc38a9 T C 13: 112,831,856 (GRCm39) L202P possibly damaging Het
Slc40a1 A T 1: 45,951,509 (GRCm39) M216K probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Srp54b A G 12: 55,299,614 (GRCm39) N315S probably benign Het
Strc A G 2: 121,196,358 (GRCm39) F1557L probably benign Het
Susd3 C A 13: 49,392,202 (GRCm39) probably benign Het
Usp54 G A 14: 20,600,351 (GRCm39) T1462I probably benign Het
Vmn1r11 T A 6: 57,114,787 (GRCm39) N150K probably damaging Het
Vwa8 C T 14: 79,231,958 (GRCm39) H606Y probably benign Het
Zmym6 A G 4: 126,994,463 (GRCm39) I206V possibly 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
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'- AGCCATAGAGCTGGGCAAAC -3'
(R):5'- GTTCAGTAACCACCCTGCTAC -3'

Sequencing Primer
(F):5'- GAGAAAGGCCCCCATTGTTTC -3'
(R):5'- TGCTACCCAAAATGAGTCAGTC -3'
Posted On 2016-12-20