Incidental Mutation 'R0543:Nherf4'
ID 50062
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 038735-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0543 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44158609-44162761 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44160231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 324 (H324Q)
Ref Sequence ENSEMBL: ENSMUSP00000034618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000034621] [ENSMUST00000092426] [ENSMUST00000168499] [ENSMUST00000169651] [ENSMUST00000213891] [ENSMUST00000215711] [ENSMUST00000217510] [ENSMUST00000217221] [ENSMUST00000215554] [ENSMUST00000216632]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034618
AA Change: H324Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105
AA Change: H324Q

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: ENSMUST00000213891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216047
Predicted Effect probably benign
Transcript: ENSMUST00000215711
Predicted Effect probably benign
Transcript: ENSMUST00000217510
Predicted Effect probably benign
Transcript: ENSMUST00000217221
Predicted Effect probably benign
Transcript: ENSMUST00000215554
Predicted Effect probably benign
Transcript: ENSMUST00000216632
Meta Mutation Damage Score 0.5892 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 T A 6: 116,431,278 (GRCm39) probably null Het
Apol9b A G 15: 77,619,840 (GRCm39) N212S probably damaging Het
Ash1l T A 3: 88,971,085 (GRCm39) probably null Het
Bltp1 G A 3: 37,050,607 (GRCm39) S2981N probably benign Het
Ccdc180 A T 4: 45,900,041 (GRCm39) K200* probably null Het
Ccser2 A T 14: 36,662,149 (GRCm39) M345K probably benign Het
Cdcp2 A T 4: 106,954,873 (GRCm39) probably null Het
Clca3a1 T C 3: 144,454,155 (GRCm39) probably benign Het
Cntn3 G A 6: 102,246,051 (GRCm39) probably benign Het
Col28a1 T A 6: 8,075,326 (GRCm39) probably benign Het
Dock2 A G 11: 34,244,325 (GRCm39) F1035S probably damaging Het
Dsg1a A T 18: 20,473,920 (GRCm39) S998C probably damaging Het
Ecrg4 C A 1: 43,781,449 (GRCm39) N110K possibly damaging Het
Enox1 T C 14: 77,744,399 (GRCm39) probably benign Het
Fgfr3 A G 5: 33,887,054 (GRCm39) M1V probably null Het
Fuca2 T A 10: 13,378,870 (GRCm39) Y5N probably damaging Het
Git2 G T 5: 114,883,592 (GRCm39) H42Q probably damaging Het
Gm7964 G A 7: 83,405,602 (GRCm39) noncoding transcript Het
Hars2 G A 18: 36,922,477 (GRCm39) E337K probably damaging Het
Hells A G 19: 38,956,194 (GRCm39) R797G probably benign Het
Hnf1a G A 5: 115,088,803 (GRCm39) S571L probably benign Het
Hoxa5 T C 6: 52,181,320 (GRCm39) Y4C probably damaging Het
Inpp4a G A 1: 37,408,573 (GRCm39) probably benign Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Itpr1 T C 6: 108,492,709 (GRCm39) probably benign Het
Itprid2 T A 2: 79,474,850 (GRCm39) S270T possibly damaging Het
Kcnt2 C A 1: 140,537,352 (GRCm39) P1037T probably damaging Het
Lyg2 T A 1: 37,950,188 (GRCm39) M47L possibly damaging Het
Macf1 G T 4: 123,270,171 (GRCm39) A4648D probably damaging Het
Mcf2l T C 8: 13,046,728 (GRCm39) probably null Het
Mcm9 C T 10: 53,417,694 (GRCm39) R3H probably damaging Het
Met T A 6: 17,491,969 (GRCm39) Y244N probably damaging Het
Mettl14 A T 3: 123,168,411 (GRCm39) C210S possibly damaging Het
Mrgpra4 T C 7: 47,631,058 (GRCm39) Y181C probably benign Het
Mtch2 T C 2: 90,680,026 (GRCm39) V86A possibly damaging Het
Mttp A T 3: 137,817,457 (GRCm39) I446N possibly damaging Het
Muc4 T A 16: 32,577,120 (GRCm39) S2207T unknown Het
Muc5b A G 7: 141,405,522 (GRCm39) T944A unknown Het
Myo15a A T 11: 60,369,877 (GRCm39) H879L probably benign Het
Nkiras2 G A 11: 100,515,018 (GRCm39) probably benign Het
Nostrin T G 2: 69,019,475 (GRCm39) *507E probably null Het
Nup205 T C 6: 35,175,904 (GRCm39) V589A probably benign Het
Or12j3 A G 7: 139,953,307 (GRCm39) I72T probably benign Het
Or5b21 G T 19: 12,839,252 (GRCm39) V38F probably benign Het
Or5w17 C A 2: 87,583,994 (GRCm39) L114F probably damaging Het
Oxct2b T A 4: 123,010,782 (GRCm39) M234K possibly damaging Het
Pcdha1 A T 18: 37,318,121 (GRCm39) I945F probably damaging Het
Pik3ca G A 3: 32,504,410 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,887 (GRCm39) probably null Het
Plscr1 A T 9: 92,140,099 (GRCm39) probably null Het
Prkn G A 17: 11,286,066 (GRCm39) D20N probably damaging Het
Psd T C 19: 46,307,956 (GRCm39) E684G possibly damaging Het
Rab11fip3 T C 17: 26,213,199 (GRCm39) E870G probably damaging Het
Rpl22l1 C A 3: 28,861,423 (GRCm39) Y103* probably null Het
Semp2l2b T C 10: 21,942,823 (GRCm39) S386G possibly damaging Het
Slc38a4 A T 15: 96,914,720 (GRCm39) N44K possibly damaging Het
Slco6c1 T A 1: 97,055,623 (GRCm39) I93F probably damaging Het
Strip1 G A 3: 107,534,091 (GRCm39) T181M possibly damaging Het
Stxbp5l G A 16: 37,028,458 (GRCm39) A535V probably damaging Het
Tg A T 15: 66,601,446 (GRCm39) Q152L probably benign Het
Thada T C 17: 84,730,591 (GRCm39) T1036A probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tns1 T A 1: 73,991,856 (GRCm39) T941S probably benign Het
Tppp3 T C 8: 106,194,840 (GRCm39) D97G probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Trpm7 T C 2: 126,690,449 (GRCm39) I210V probably damaging Het
Ubr1 A G 2: 120,711,574 (GRCm39) L1440P probably damaging Het
Utp18 A T 11: 93,766,661 (GRCm39) Y317N probably damaging Het
Zdhhc5 T A 2: 84,522,824 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null 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
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
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'- AGCAGAGTCTGAATCCATAGCCACC -3'
(R):5'- TTCTCAGCATCCATGAGCGATGCC -3'

Sequencing Primer
(F):5'- TTCAACCGGAAGATCCTTGG -3'
(R):5'- AGCTTTCCATGCACTGTAGAG -3'
Posted On 2013-06-12