Incidental Mutation 'R8913:Nherf2'
ID 678788
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 068702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8913 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24858255-24869279 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24863839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 12 (S12L)
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: S12L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504
AA Change: S12L

DomainStartEndE-ValueType
PDZ 48 120 8.79e-20 SMART
Pfam:EBP50_C-term 186 226 2.7e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 96% (65/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,303,972 (GRCm39) Y2102H probably damaging Het
Adam30 A T 3: 98,068,580 (GRCm39) I10F possibly damaging Het
Afap1l1 C T 18: 61,889,910 (GRCm39) probably null Het
Asz1 T C 6: 18,054,570 (GRCm39) D411G probably benign Het
Atp8b2 A G 3: 89,852,830 (GRCm39) L144P Het
Atxn7l3 G T 11: 102,185,787 (GRCm39) N13K probably damaging Het
Cap1 C A 4: 122,761,445 (GRCm39) probably null Het
Cd244a T A 1: 171,401,774 (GRCm39) Y167N probably damaging Het
Cd244a A T 1: 171,401,775 (GRCm39) Y167F probably damaging Het
Cd302 A G 2: 60,088,241 (GRCm39) F92S probably damaging Het
Cep128 C T 12: 91,331,221 (GRCm39) probably null Het
Csmd2 C A 4: 128,417,351 (GRCm39) P2770T Het
Cyp4f40 G T 17: 32,886,810 (GRCm39) D122Y probably benign Het
Dnah14 A G 1: 181,553,063 (GRCm39) E2583G probably benign Het
Dync1h1 T C 12: 110,624,602 (GRCm39) V3714A probably benign Het
Fam114a1 G T 5: 65,185,821 (GRCm39) A381S possibly damaging Het
Fzd8 A G 18: 9,213,869 (GRCm39) Y317C probably damaging Het
Igfn1 T C 1: 135,891,579 (GRCm39) K2312R possibly damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Klhl23 G A 2: 69,664,234 (GRCm39) E528K probably damaging Het
Lama4 T C 10: 38,982,039 (GRCm39) V1756A probably benign Het
Lcn2 C A 2: 32,277,158 (GRCm39) V53F possibly damaging Het
Lrp4 T C 2: 91,331,785 (GRCm39) S1633P probably benign Het
Map3k19 A G 1: 127,750,363 (GRCm39) V996A probably benign Het
Mettl9 T G 7: 120,675,539 (GRCm39) F313C probably damaging Het
Mios T A 6: 8,215,924 (GRCm39) H373Q probably benign Het
Mroh2b A G 15: 4,947,010 (GRCm39) probably benign Het
Myo1a T C 10: 127,541,710 (GRCm39) V83A probably benign Het
Naxe T C 3: 87,965,665 (GRCm39) T45A probably benign Het
Nckap1 A G 2: 80,401,564 (GRCm39) V40A possibly damaging Het
Nmt1 G T 11: 102,948,271 (GRCm39) R265L probably damaging Het
Nwd2 C A 5: 63,963,440 (GRCm39) A1008D possibly damaging Het
Obsl1 C T 1: 75,467,892 (GRCm39) A1334T probably benign Het
Oplah T C 15: 76,181,680 (GRCm39) M1114V Het
Or10a3n T C 7: 108,492,736 (GRCm39) R298G probably damaging Het
Or10a49 A T 7: 108,467,809 (GRCm39) V184E probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or2w6 A G 13: 21,843,274 (GRCm39) F73S probably damaging Het
Or4c29 A G 2: 88,739,991 (GRCm39) F249L probably benign Het
Pdlim5 A T 3: 141,950,666 (GRCm39) F582L probably damaging Het
Plcb2 A G 2: 118,544,365 (GRCm39) F671L probably damaging Het
Ppfibp1 T A 6: 146,923,947 (GRCm39) V725E probably damaging Het
Psmd11 C T 11: 80,362,338 (GRCm39) T396I probably damaging Het
Ptn C T 6: 36,718,276 (GRCm39) D130N probably benign Het
Rasgrf2 T C 13: 92,159,034 (GRCm39) D473G probably benign Het
Robo1 A C 16: 72,701,622 (GRCm39) I163L probably damaging Het
Ror1 A C 4: 100,265,027 (GRCm39) D167A possibly damaging Het
Rps6ka5 T C 12: 100,520,595 (GRCm39) D709G Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Runx2 T C 17: 44,919,169 (GRCm39) T472A probably benign Het
Scn11a T C 9: 119,623,094 (GRCm39) T582A probably damaging Het
Serpina3m C T 12: 104,355,477 (GRCm39) A48V probably benign Het
Smim8 T A 4: 34,769,056 (GRCm39) D76V possibly damaging Het
Sqor A G 2: 122,641,806 (GRCm39) K260R probably benign Het
Syde2 A T 3: 145,708,148 (GRCm39) I963F probably damaging Het
Tasor A T 14: 27,188,145 (GRCm39) N864Y probably damaging Het
Tenm4 G A 7: 96,351,952 (GRCm39) probably benign Het
Tm7sf3 A T 6: 146,527,621 (GRCm39) Y68* probably null Het
Tmtc2 T A 10: 105,158,887 (GRCm39) I569F probably damaging Het
Upf3a G A 8: 13,845,728 (GRCm39) V276M possibly damaging Het
Vmn1r174 G A 7: 23,453,375 (GRCm39) V14M possibly damaging Het
Vmn2r104 A G 17: 20,249,968 (GRCm39) S768P probably damaging Het
Vmn2r60 A T 7: 41,785,778 (GRCm39) T194S probably benign Het
Zfhx2 A G 14: 55,309,543 (GRCm39) M852T probably benign Het
Zfp207 T A 11: 80,276,744 (GRCm39) D19E probably damaging Het
Zfp318 G A 17: 46,722,699 (GRCm39) M1567I probably benign Het
Zfp407 T A 18: 84,578,653 (GRCm39) E820V probably damaging Het
Zfp512b A T 2: 181,227,282 (GRCm39) C46S 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
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
R9594:Nherf2 UTSW 17 24,868,922 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCATAGAGCTGGGCAAAC -3'
(R):5'- CCCAAAATGAGTCAGTCCCTATG -3'

Sequencing Primer
(F):5'- CAGATAAGGGGGTGCCCTG -3'
(R):5'- AAATGAGTCAGTCCCTATGTCCCC -3'
Posted On 2021-08-02