Incidental Mutation 'R2366:Nherf1'
ID 246344
Institutional Source Beutler Lab
Gene Symbol Nherf1
Ensembl Gene ENSMUSG00000020733
Gene Name NHERF family PDZ scaffold protein 1
Synonyms Slc9a3r1, sodium-hydrogen exchanger regulatory factor, NHERF1, NHE-RF, EBP-50
MMRRC Submission 040347-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R2366 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115054167-115072007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115054454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 35 (V35M)
Ref Sequence ENSEMBL: ENSMUSP00000021077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021076] [ENSMUST00000021077] [ENSMUST00000067754]
AlphaFold P70441
Predicted Effect probably benign
Transcript: ENSMUST00000021076
SMART Domains Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
RAB 31 194 9.38e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021077
AA Change: V35M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733
AA Change: V35M

DomainStartEndE-ValueType
PDZ 22 94 2.9e-20 SMART
PDZ 157 229 6.03e-18 SMART
Pfam:EBP50_C 230 355 1.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067754
SMART Domains Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732

DomainStartEndE-ValueType
RAB 23 187 1.27e-89 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]
PHENOTYPE: For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G A 7: 98,192,949 (GRCm39) noncoding transcript Het
Adamts5 C T 16: 85,659,646 (GRCm39) G882D probably damaging Het
Arl6ip6 T C 2: 53,082,379 (GRCm39) V82A probably benign Het
Brd10 A T 19: 29,731,035 (GRCm39) I726N probably damaging Het
Cd38 T G 5: 44,060,932 (GRCm39) probably benign Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col6a6 C A 9: 105,632,893 (GRCm39) G1457V probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Cyp2d12 T A 15: 82,439,355 (GRCm39) L3Q probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Drc1 A G 5: 30,523,894 (GRCm39) *754W probably null Het
Erbin G A 13: 103,981,417 (GRCm39) H503Y probably damaging Het
F3 G A 3: 121,526,194 (GRCm39) probably null Het
Gm10033 A T 8: 69,826,232 (GRCm39) M112K unknown Het
Gps1 A C 11: 120,678,945 (GRCm39) I404L probably damaging Het
Hc T C 2: 34,903,648 (GRCm39) N1002S probably benign Het
Impg2 T C 16: 56,080,236 (GRCm39) I571T probably benign Het
Knop1 C A 7: 118,451,751 (GRCm39) V323F possibly damaging Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lsm5 T C 6: 56,680,003 (GRCm39) D53G probably damaging Het
Lzts1 T C 8: 69,593,257 (GRCm39) probably null Het
Matr3 A T 18: 35,721,448 (GRCm39) N473I probably damaging Het
Med1 A G 11: 98,052,008 (GRCm39) V452A probably damaging Het
Napsa T A 7: 44,231,909 (GRCm39) D44E probably damaging Het
Nbeal1 T C 1: 60,290,511 (GRCm39) F1036S probably damaging Het
Ncapg2 G A 12: 116,384,349 (GRCm39) W270* probably null Het
Or5af1 C A 11: 58,722,039 (GRCm39) Q20K probably benign Het
Pik3ca G A 3: 32,516,943 (GRCm39) W1057* probably null Het
Pkd1l2 A T 8: 117,770,056 (GRCm39) D1133E probably benign Het
Pramel39-ps T C 5: 94,450,972 (GRCm39) K385E probably benign Het
Prox1 T A 1: 189,894,079 (GRCm39) E122V probably damaging Het
Rest C A 5: 77,416,034 (GRCm39) H83N probably benign Het
Rundc3a A G 11: 102,288,491 (GRCm39) I68V probably damaging Het
Stx6 A T 1: 155,077,706 (GRCm39) I238L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqln3 C A 7: 103,790,256 (GRCm39) Q611H probably damaging Het
Usp6nl T A 2: 6,445,770 (GRCm39) H559Q probably benign Het
Vipr1 T G 9: 121,494,250 (GRCm39) V277G probably benign Het
Zfp101 A T 17: 33,599,972 (GRCm39) C595S probably benign Het
Zfp398 C T 6: 47,840,143 (GRCm39) T124I possibly damaging Het
Other mutations in Nherf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Nherf1 APN 11 115,070,858 (GRCm39) missense probably benign 0.19
IGL02423:Nherf1 APN 11 115,054,539 (GRCm39) splice site probably null
IGL02712:Nherf1 APN 11 115,068,060 (GRCm39) missense possibly damaging 0.51
R2129:Nherf1 UTSW 11 115,067,270 (GRCm39) missense probably damaging 1.00
R2939:Nherf1 UTSW 11 115,071,270 (GRCm39) missense probably damaging 1.00
R4820:Nherf1 UTSW 11 115,070,918 (GRCm39) missense probably benign 0.01
R4960:Nherf1 UTSW 11 115,067,289 (GRCm39) missense probably benign
R5307:Nherf1 UTSW 11 115,054,587 (GRCm39) missense probably damaging 1.00
R7334:Nherf1 UTSW 11 115,054,593 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- AGAGCCCGGTTCGTGATTTC -3'
(R):5'- AGCTTCTTGAGACGCTCGTC -3'

Sequencing Primer
(F):5'- TTCTGGAACGCTCAGACG -3'
(R):5'- GACGCTCGTCGGTCTCC -3'
Posted On 2014-10-30