Incidental Mutation 'R7625:Nherf4'
ID 589396
Institutional Source Beutler Lab
Gene Symbol Nherf4
Ensembl Gene ENSMUSG00000032105
Gene Name NHERF family PDZ scaffold protein 4
Synonyms NaPi-Cap2, sodium-phosphate cotransporter IIa C-terminal-associated protein 2, Pdzk2, Pdzd3
MMRRC Submission 045719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7625 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44158609-44162761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44161594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 95 (I95N)
Ref Sequence ENSEMBL: ENSMUSP00000034618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000034621] [ENSMUST00000092426] [ENSMUST00000168499] [ENSMUST00000169651] [ENSMUST00000213891] [ENSMUST00000215554] [ENSMUST00000215711] [ENSMUST00000216632] [ENSMUST00000217221] [ENSMUST00000217510]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034618
AA Change: I95N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
AA Change: I95N

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
PDZ 58 130 2.04e-15 SMART
PDZ 165 235 2.93e-7 SMART
PDZ 271 346 2.47e-14 SMART
PDZ 403 475 1.4e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034621
SMART Domains Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109

DomainStartEndE-ValueType
Pfam:NACHT 160 325 1.1e-22 PFAM
low complexity region 543 556 N/A INTRINSIC
LRR 695 722 1.66e2 SMART
LRR 749 776 3.59e1 SMART
LRR 778 805 6.23e-2 SMART
LRR 806 833 1.13e0 SMART
LRR 834 861 1.99e1 SMART
LRR 862 885 8.11e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092426
SMART Domains Protein: ENSMUSP00000090082
Gene: ENSMUSG00000070306

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
coiled coil region 26 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168499
SMART Domains Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109

DomainStartEndE-ValueType
Pfam:NACHT 160 325 1.3e-23 PFAM
low complexity region 543 556 N/A INTRINSIC
LRR 695 722 1.66e2 SMART
LRR 749 776 3.59e1 SMART
LRR 778 805 6.23e-2 SMART
LRR 806 833 1.13e0 SMART
LRR 834 861 1.99e1 SMART
LRR 862 885 8.11e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169651
SMART Domains Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109

DomainStartEndE-ValueType
Pfam:NACHT 160 325 1.3e-23 PFAM
low complexity region 543 556 N/A INTRINSIC
LRR 695 722 1.66e2 SMART
LRR 749 776 3.59e1 SMART
LRR 778 805 6.23e-2 SMART
LRR 806 833 1.13e0 SMART
LRR 834 861 1.99e1 SMART
LRR 862 885 8.11e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213891
Predicted Effect probably benign
Transcript: ENSMUST00000215554
Predicted Effect probably benign
Transcript: ENSMUST00000215711
Predicted Effect probably benign
Transcript: ENSMUST00000216632
Predicted Effect probably benign
Transcript: ENSMUST00000217221
Predicted Effect probably benign
Transcript: ENSMUST00000217510
Meta Mutation Damage Score 0.6191 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,773,587 (GRCm39) V506E probably damaging Het
Acaa2 G T 18: 74,937,213 (GRCm39) V366F possibly damaging Het
Ago1 G A 4: 126,337,022 (GRCm39) R532C probably benign Het
Ank2 T G 3: 126,846,449 (GRCm39) D182A probably damaging Het
Anxa4 T C 6: 86,714,801 (GRCm39) D302G probably damaging Het
Apoa4 A T 9: 46,154,410 (GRCm39) E337V probably damaging Het
Atf1 A G 15: 100,152,158 (GRCm39) probably null Het
Atp8b3 A C 10: 80,355,980 (GRCm39) V1244G probably benign Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camk2a G A 18: 61,085,412 (GRCm39) V132M probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Chd8 G A 14: 52,474,534 (GRCm39) P166S probably benign Het
Chl1 T A 6: 103,706,086 (GRCm39) S1140R probably damaging Het
Clstn3 G T 6: 124,414,377 (GRCm39) S783* probably null Het
Col6a1 A G 10: 76,549,760 (GRCm39) S562P unknown Het
Cpb2 G A 14: 75,509,989 (GRCm39) V250M possibly damaging Het
Cyp2c38 T A 19: 39,451,368 (GRCm39) Q44L possibly damaging Het
Dgat1 T C 15: 76,387,395 (GRCm39) M325V possibly damaging Het
Dnah11 T A 12: 118,160,377 (GRCm39) M118L probably benign Het
Dpy19l3 T A 7: 35,452,106 (GRCm39) I13L probably benign Het
Enkd1 A G 8: 106,431,265 (GRCm39) probably null Het
Fam241b A G 10: 61,970,479 (GRCm39) probably benign Het
Fhit T A 14: 9,870,177 (GRCm38) probably null Het
Gp6 T C 7: 4,373,173 (GRCm39) E250G probably benign Het
Hmgb1 T C 5: 148,987,150 (GRCm39) E84G probably benign Het
Hscb T A 5: 110,977,012 (GRCm39) I227F probably damaging Het
Hspg2 T A 4: 137,292,249 (GRCm39) L4047Q probably damaging Het
Hsph1 A G 5: 149,541,901 (GRCm39) L775P probably benign Het
Hydin A T 8: 111,268,476 (GRCm39) S2947C probably benign Het
Intu T C 3: 40,652,029 (GRCm39) S829P probably benign Het
Kcnn3 C A 3: 89,516,977 (GRCm39) T462K probably damaging Het
Kndc1 G A 7: 139,517,930 (GRCm39) C1622Y possibly damaging Het
Lifr T C 15: 7,198,723 (GRCm39) Y318H probably damaging Het
Mier2 A G 10: 79,378,543 (GRCm39) S332P probably damaging Het
Mindy4 T C 6: 55,253,598 (GRCm39) I489T possibly damaging Het
Mmp8 A T 9: 7,566,218 (GRCm39) Q358L probably benign Het
Ms4a4a T A 19: 11,367,728 (GRCm39) probably null Het
Nav1 G C 1: 135,395,483 (GRCm39) S962C probably damaging Het
Nfe2l1 G A 11: 96,710,271 (GRCm39) R653C probably damaging Het
Nod2 A T 8: 89,391,906 (GRCm39) I738F probably damaging Het
Nrf1 G A 6: 30,116,230 (GRCm39) V301I probably benign Het
Oog1 T C 12: 87,655,082 (GRCm39) F410S probably benign Het
Or52a33 A G 7: 103,289,165 (GRCm39) Y61H probably damaging Het
Or6k4 G A 1: 173,964,733 (GRCm39) C141Y probably benign Het
Pcdhga8 G A 18: 37,859,954 (GRCm39) V337I probably benign Het
Pelp1 G T 11: 70,286,260 (GRCm39) N572K probably benign Het
Pikfyve T C 1: 65,307,036 (GRCm39) V1808A possibly damaging Het
Pirt A C 11: 66,816,769 (GRCm39) S27R probably damaging Het
Pramel20 A T 4: 143,298,821 (GRCm39) I255L probably benign Het
Rgs17 A T 10: 5,791,488 (GRCm39) D96E probably benign Het
Senp1 A G 15: 97,964,679 (GRCm39) F206L probably benign Het
Sh3rf1 T A 8: 61,825,756 (GRCm39) S584T probably benign Het
Tex44 A T 1: 86,354,459 (GRCm39) K123* probably null Het
Tpst2 C A 5: 112,455,887 (GRCm39) T142K probably damaging Het
Ttc28 G A 5: 111,433,085 (GRCm39) G2040R possibly damaging Het
Uggt2 T A 14: 119,263,905 (GRCm39) I1042F probably damaging Het
Vmn2r91 T C 17: 18,325,693 (GRCm39) S104P probably damaging Het
Wdfy3 T C 5: 102,003,252 (GRCm39) probably null Het
Zeb2 G A 2: 44,892,584 (GRCm39) A223V probably damaging Het
Zfp1002 T C 2: 150,096,520 (GRCm39) D303G probably benign Het
Zfp566 A G 7: 29,777,930 (GRCm39) S84P probably benign Het
Zfp994 T A 17: 22,420,736 (GRCm39) H71L possibly damaging Het
Other mutations in Nherf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Nherf4 APN 9 44,160,933 (GRCm39) missense possibly damaging 0.84
IGL01639:Nherf4 APN 9 44,159,976 (GRCm39) missense probably benign 0.41
IGL02210:Nherf4 APN 9 44,159,614 (GRCm39) missense probably benign
IGL02502:Nherf4 APN 9 44,160,948 (GRCm39) missense probably benign
IGL03082:Nherf4 APN 9 44,162,083 (GRCm39) missense possibly damaging 0.65
R0543:Nherf4 UTSW 9 44,160,231 (GRCm39) missense probably damaging 1.00
R1180:Nherf4 UTSW 9 44,160,543 (GRCm39) missense probably benign 0.38
R1919:Nherf4 UTSW 9 44,161,600 (GRCm39) missense possibly damaging 0.83
R4019:Nherf4 UTSW 9 44,162,117 (GRCm39) splice site probably null
R4020:Nherf4 UTSW 9 44,162,117 (GRCm39) splice site probably null
R4296:Nherf4 UTSW 9 44,160,158 (GRCm39) missense probably benign 0.01
R4430:Nherf4 UTSW 9 44,161,041 (GRCm39) missense probably benign
R4433:Nherf4 UTSW 9 44,159,285 (GRCm39) makesense probably null
R4567:Nherf4 UTSW 9 44,160,323 (GRCm39) missense possibly damaging 0.90
R4942:Nherf4 UTSW 9 44,159,915 (GRCm39) nonsense probably null
R5436:Nherf4 UTSW 9 44,159,652 (GRCm39) missense possibly damaging 0.79
R6320:Nherf4 UTSW 9 44,159,980 (GRCm39) missense probably benign 0.00
R6688:Nherf4 UTSW 9 44,159,527 (GRCm39) critical splice donor site probably null
R8142:Nherf4 UTSW 9 44,162,078 (GRCm39) critical splice donor site probably null
R8531:Nherf4 UTSW 9 44,159,670 (GRCm39) missense probably damaging 1.00
R8917:Nherf4 UTSW 9 44,160,141 (GRCm39) unclassified probably benign
R9147:Nherf4 UTSW 9 44,160,676 (GRCm39) missense probably damaging 1.00
R9148:Nherf4 UTSW 9 44,160,676 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTCTGTAGTTGCCTTCAC -3'
(R):5'- CAGGGTCTGCCAGTCTTTTG -3'

Sequencing Primer
(F):5'- GTCTGTAGTTGCCTTCACTCAATC -3'
(R):5'- TCCATTTGCAGCAGCATC -3'
Posted On 2019-10-24