Incidental Mutation 'R6320:Nherf4'
ID 510103
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 044475-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6320 (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 G at 44159980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 380 (V380A)
Ref Sequence ENSEMBL: ENSMUSP00000034618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000034621] [ENSMUST00000092426] [ENSMUST00000168499] [ENSMUST00000169651] [ENSMUST00000215711] [ENSMUST00000217221] [ENSMUST00000215554] [ENSMUST00000213891] [ENSMUST00000216632] [ENSMUST00000217510]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034618
AA Change: V380A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
AA Change: V380A

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 noncoding transcript
Transcript: ENSMUST00000213186
Predicted Effect probably benign
Transcript: ENSMUST00000215711
Predicted Effect probably benign
Transcript: ENSMUST00000217221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216047
Predicted Effect probably benign
Transcript: ENSMUST00000215554
Predicted Effect probably benign
Transcript: ENSMUST00000213891
Predicted Effect probably benign
Transcript: ENSMUST00000216632
Predicted Effect probably benign
Transcript: ENSMUST00000217510
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (63/63)
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
Agtr1b G T 3: 20,369,943 (GRCm39) A221D probably benign Het
Aldh18a1 A T 19: 40,559,005 (GRCm39) D280E probably benign Het
Apob G A 12: 8,039,194 (GRCm39) D475N probably benign Het
Bmi1 C T 2: 18,689,186 (GRCm39) T290I probably benign Het
Brd8 A T 18: 34,746,292 (GRCm39) D139E possibly damaging Het
Cacna1e C A 1: 154,317,270 (GRCm39) V1467F possibly damaging Het
Cdh15 A G 8: 123,591,086 (GRCm39) D445G probably benign Het
Ceacam5 T A 7: 17,481,123 (GRCm39) L290H probably damaging Het
Celsr1 G T 15: 85,785,160 (GRCm39) Q3025K probably benign Het
Chi3l1 T A 1: 134,109,996 (GRCm39) M1K probably null Het
Crybg2 T C 4: 133,808,737 (GRCm39) S1404P probably damaging Het
Cubn C A 2: 13,285,006 (GRCm39) C3470F probably damaging Het
Cyp20a1 T C 1: 60,391,331 (GRCm39) probably null Het
Cyp24a1 G T 2: 170,328,704 (GRCm39) T408K probably benign Het
Cyp2a12 A T 7: 26,730,577 (GRCm39) I181F possibly damaging Het
Dnm1l A T 16: 16,149,952 (GRCm39) I268N probably damaging Het
Eif2a A G 3: 58,464,517 (GRCm39) probably null Het
Epg5 T C 18: 78,005,613 (GRCm39) F701S probably damaging Het
Fbxo46 T C 7: 18,870,466 (GRCm39) S362P possibly damaging Het
Fgf22 A G 10: 79,592,830 (GRCm39) probably benign Het
Fhod1 A C 8: 106,063,982 (GRCm39) probably benign Het
Flnc T A 6: 29,459,062 (GRCm39) V2448D probably damaging Het
Gm2696 G T 10: 77,671,972 (GRCm39) probably benign Het
Gmpr T C 13: 45,685,874 (GRCm39) S214P possibly damaging Het
Krt6a A G 15: 101,600,744 (GRCm39) V308A probably damaging Het
Lig3 T A 11: 82,684,833 (GRCm39) probably null Het
Lrrc37a T A 11: 103,394,877 (GRCm39) N183Y probably benign Het
Mapk8ip3 C A 17: 25,125,879 (GRCm39) G422V probably damaging Het
Mks1 T C 11: 87,746,325 (GRCm39) S97P probably benign Het
Mphosph9 A T 5: 124,463,024 (GRCm39) V7E probably damaging Het
Msh5 A G 17: 35,248,900 (GRCm39) L711P probably damaging Het
Naga T A 15: 82,216,404 (GRCm39) probably null Het
Nlrp10 T A 7: 108,524,953 (GRCm39) T176S possibly damaging Het
Nqo1 T C 8: 108,115,582 (GRCm39) N232D probably benign Het
Or1j21 C G 2: 36,683,585 (GRCm39) N112K possibly damaging Het
Or2b6 T A 13: 21,823,418 (GRCm39) I92L probably damaging Het
P2ry6 A G 7: 100,587,603 (GRCm39) F252S probably damaging Het
P3h3 G A 6: 124,831,835 (GRCm39) R317W probably benign Het
Pakap T A 4: 57,710,173 (GRCm39) C373S probably damaging Het
Phkb T A 8: 86,602,327 (GRCm39) D39E probably benign Het
Psg16 G A 7: 16,822,112 (GRCm39) G23D probably damaging Het
Ptgr2 T A 12: 84,349,111 (GRCm39) I150K probably benign Het
Ptprf A G 4: 118,070,011 (GRCm39) V1457A probably benign Het
Sart3 A T 5: 113,889,301 (GRCm39) Y508N probably benign Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Ska3 A T 14: 58,054,148 (GRCm39) N267K probably benign Het
Slc26a7 A G 4: 14,524,498 (GRCm39) I462T probably benign Het
Slu7 C T 11: 43,332,316 (GRCm39) A244V probably benign Het
Smarca4 C T 9: 21,548,671 (GRCm39) P319L probably damaging Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Strc T A 2: 121,205,439 (GRCm39) D25V probably benign Het
Syne2 T G 12: 76,108,424 (GRCm39) V936G probably damaging Het
Tbc1d7 C T 13: 43,306,409 (GRCm39) probably benign Het
Terb1 C A 8: 105,173,831 (GRCm39) D751Y probably damaging Het
Trpc1 A G 9: 95,603,303 (GRCm39) Y410H probably damaging Het
Ush2a A G 1: 188,089,043 (GRCm39) N333D probably benign Het
Usp34 T C 11: 23,402,520 (GRCm39) S2438P probably damaging Het
Vps35l T C 7: 118,353,072 (GRCm39) V189A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp7 G A 15: 76,774,810 (GRCm39) G284D possibly damaging Het
Zfyve26 A G 12: 79,286,776 (GRCm39) S2271P probably damaging Het
Zscan18 G A 7: 12,509,147 (GRCm39) probably benign 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
R6688:Nherf4 UTSW 9 44,159,527 (GRCm39) critical splice donor site probably null
R7625:Nherf4 UTSW 9 44,161,594 (GRCm39) missense probably damaging 1.00
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'- CTGGCAGTGTAAGGGGATAC -3'
(R):5'- TCAGCATGGTATGTGACTGG -3'

Sequencing Primer
(F):5'- TTCTACGGCTGGGCAGACTG -3'
(R):5'- AGCATGGTATGTGACTGGGTTGG -3'
Posted On 2018-04-02