Incidental Mutation 'R8847:Nphp4'
ID 674745
Institutional Source Beutler Lab
Gene Symbol Nphp4
Ensembl Gene ENSMUSG00000039577
Gene Name nephronophthisis 4 (juvenile) homolog (human)
Synonyms nmf192, 4930564O18Rik
MMRRC Submission 068735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R8847 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 152561163-152647640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152590863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 287 (R287C)
Ref Sequence ENSEMBL: ENSMUSP00000049920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056567] [ENSMUST00000081393]
AlphaFold P59240
Predicted Effect probably damaging
Transcript: ENSMUST00000056567
AA Change: R287C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
AA Change: R287C

DomainStartEndE-ValueType
low complexity region 317 333 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
low complexity region 473 484 N/A INTRINSIC
low complexity region 507 530 N/A INTRINSIC
low complexity region 896 909 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081393
AA Change: R287C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
AA Change: R287C

DomainStartEndE-ValueType
low complexity region 317 333 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
low complexity region 473 484 N/A INTRINSIC
low complexity region 507 530 N/A INTRINSIC
low complexity region 896 909 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,206,746 (GRCm39) R4T probably benign Het
Alk T A 17: 72,256,820 (GRCm39) I680F probably benign Het
Best3 A G 10: 116,824,572 (GRCm39) T13A possibly damaging Het
Ccdc7b A G 8: 129,872,082 (GRCm39) D59G Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cic G A 7: 24,970,631 (GRCm39) V121M probably damaging Het
Clasp1 C G 1: 118,506,705 (GRCm39) P1280R probably damaging Het
Col6a5 A T 9: 105,741,472 (GRCm39) N2482K possibly damaging Het
Crebbp A G 16: 3,902,891 (GRCm39) M2116T probably benign Het
Ddn T C 15: 98,704,794 (GRCm39) E166G possibly damaging Het
Dennd6a C T 14: 26,327,086 (GRCm39) T249I probably benign Het
Diaph1 A T 18: 37,987,590 (GRCm39) D1055E possibly damaging Het
Dnajc13 C A 9: 104,057,360 (GRCm39) G1547* probably null Het
Dvl1 C T 4: 155,942,611 (GRCm39) R626C possibly damaging Het
Fer1l6 A C 15: 58,414,012 (GRCm39) K13Q possibly damaging Het
Fry G A 5: 150,309,472 (GRCm39) E639K Het
Gm6408 G T 5: 146,420,602 (GRCm39) V161L probably benign Het
Gpatch8 A T 11: 102,372,010 (GRCm39) N509K unknown Het
Hycc2 G T 1: 58,595,713 (GRCm39) P55Q probably damaging Het
Ints13 T C 6: 146,457,631 (GRCm39) T416A probably benign Het
Iqcf6 A T 9: 106,504,650 (GRCm39) M105L probably damaging Het
Magi3 C A 3: 103,922,334 (GRCm39) R1461L probably benign Het
Map3k8 A T 18: 4,333,889 (GRCm39) L401Q Het
Miga2 G T 2: 30,273,990 (GRCm39) R542L probably damaging Het
Mphosph9 A T 5: 124,454,209 (GRCm39) V96E possibly damaging Het
Nek5 T C 8: 22,613,595 (GRCm39) S28G probably benign Het
Niban1 A G 1: 151,575,929 (GRCm39) E351G probably damaging Het
Notch4 A G 17: 34,803,962 (GRCm39) probably benign Het
Npc1 A G 18: 12,323,987 (GRCm39) L1275P probably damaging Het
Or10ak11 T C 4: 118,686,821 (GRCm39) D271G probably damaging Het
Or13a20 G C 7: 140,232,326 (GRCm39) A145P possibly damaging Het
Or1j13 G A 2: 36,369,483 (GRCm39) R220* probably null Het
Or1p1c C T 11: 74,160,443 (GRCm39) T76I probably damaging Het
Parn A T 16: 13,446,270 (GRCm39) L343* probably null Het
Pax5 T A 4: 44,691,865 (GRCm39) D127V probably benign Het
Peak1 C A 9: 56,114,427 (GRCm39) D1505Y probably damaging Het
Perm1 C T 4: 156,302,068 (GRCm39) T204I probably benign Het
Pid1 A T 1: 84,093,694 (GRCm39) S65T unknown Het
Pkn2 A G 3: 142,526,401 (GRCm39) V392A probably benign Het
Plekhh2 A G 17: 84,878,479 (GRCm39) D578G probably benign Het
Ppp4r4 T A 12: 103,562,747 (GRCm39) L572Q probably damaging Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rasa2 A G 9: 96,458,402 (GRCm39) V266A possibly damaging Het
Sirpb1c C T 3: 15,886,584 (GRCm39) W264* probably null Het
Slc35g3 A T 11: 69,651,399 (GRCm39) Y195* probably null Het
Slk T A 19: 47,607,632 (GRCm39) H289Q Het
Spef2 T C 15: 9,668,913 (GRCm39) S758G probably benign Het
Spon2 C T 5: 33,371,841 (GRCm39) A322T probably benign Het
Spred2 T C 11: 19,951,064 (GRCm39) L87P probably benign Het
Stk10 A G 11: 32,539,427 (GRCm39) D269G Het
Tex48 T A 4: 63,530,772 (GRCm39) probably benign Het
Themis2 T A 4: 132,513,509 (GRCm39) H239L probably damaging Het
Tle4 T A 19: 14,493,737 (GRCm39) R199* probably null Het
Tlr11 C T 14: 50,600,182 (GRCm39) H723Y possibly damaging Het
Trdj2 T A 14: 54,374,237 (GRCm39) S1T Het
Vdac1 T G 11: 52,267,230 (GRCm39) S44A Het
Vill C T 9: 118,897,514 (GRCm39) T647I probably damaging Het
Vmn1r61 A G 7: 5,613,817 (GRCm39) C166R probably damaging Het
Vmn2r114 T A 17: 23,528,986 (GRCm39) N372I probably damaging Het
Vmn2r120 T A 17: 57,816,217 (GRCm39) M713L probably benign Het
Vmn2r61 T C 7: 41,950,010 (GRCm39) V810A probably damaging Het
Vmn2r65 A T 7: 84,590,212 (GRCm39) L568Q probably damaging Het
Wdr7 T C 18: 63,872,293 (GRCm39) V409A probably damaging Het
Ylpm1 C A 12: 85,061,672 (GRCm39) N524K unknown Het
Zfp958 A C 8: 4,678,434 (GRCm39) H153P probably damaging Het
Other mutations in Nphp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Nphp4 APN 4 152,621,766 (GRCm39) splice site probably benign
IGL00963:Nphp4 APN 4 152,622,318 (GRCm39) missense probably benign 0.01
IGL01571:Nphp4 APN 4 152,640,839 (GRCm39) missense probably benign 0.21
IGL01707:Nphp4 APN 4 152,623,440 (GRCm39) missense probably benign 0.00
IGL01837:Nphp4 APN 4 152,573,338 (GRCm39) missense probably damaging 0.96
IGL02341:Nphp4 APN 4 152,639,926 (GRCm39) splice site probably benign
IGL02558:Nphp4 APN 4 152,639,988 (GRCm39) missense probably damaging 1.00
IGL02563:Nphp4 APN 4 152,640,677 (GRCm39) missense probably benign 0.00
IGL02712:Nphp4 APN 4 152,640,732 (GRCm39) missense probably damaging 1.00
IGL03023:Nphp4 APN 4 152,608,692 (GRCm39) splice site probably null
R0280:Nphp4 UTSW 4 152,636,393 (GRCm39) splice site probably benign
R0317:Nphp4 UTSW 4 152,636,388 (GRCm39) critical splice donor site probably null
R0410:Nphp4 UTSW 4 152,641,503 (GRCm39) missense probably benign
R0433:Nphp4 UTSW 4 152,602,629 (GRCm39) missense probably benign 0.00
R0706:Nphp4 UTSW 4 152,640,074 (GRCm39) missense probably damaging 0.98
R0785:Nphp4 UTSW 4 152,646,566 (GRCm39) missense possibly damaging 0.58
R0890:Nphp4 UTSW 4 152,582,677 (GRCm39) missense possibly damaging 0.93
R0930:Nphp4 UTSW 4 152,622,512 (GRCm39) missense probably benign 0.01
R1202:Nphp4 UTSW 4 152,573,186 (GRCm39) splice site probably null
R1203:Nphp4 UTSW 4 152,573,289 (GRCm39) missense probably damaging 0.96
R1366:Nphp4 UTSW 4 152,587,383 (GRCm39) missense probably damaging 0.96
R1452:Nphp4 UTSW 4 152,631,475 (GRCm39) missense probably damaging 0.99
R1598:Nphp4 UTSW 4 152,646,547 (GRCm39) missense probably benign 0.00
R1699:Nphp4 UTSW 4 152,581,121 (GRCm39) missense probably damaging 0.99
R2007:Nphp4 UTSW 4 152,639,111 (GRCm39) missense probably damaging 0.97
R2082:Nphp4 UTSW 4 152,643,821 (GRCm39) missense probably benign 0.38
R2264:Nphp4 UTSW 4 152,587,465 (GRCm39) splice site probably benign
R2280:Nphp4 UTSW 4 152,641,500 (GRCm39) missense possibly damaging 0.95
R2281:Nphp4 UTSW 4 152,641,500 (GRCm39) missense possibly damaging 0.95
R2926:Nphp4 UTSW 4 152,602,596 (GRCm39) missense probably damaging 0.99
R3764:Nphp4 UTSW 4 152,622,474 (GRCm39) splice site probably benign
R4084:Nphp4 UTSW 4 152,573,248 (GRCm39) missense probably damaging 1.00
R4091:Nphp4 UTSW 4 152,631,475 (GRCm39) missense probably damaging 0.97
R4240:Nphp4 UTSW 4 152,640,141 (GRCm39) missense probably benign 0.07
R4701:Nphp4 UTSW 4 152,581,116 (GRCm39) missense probably damaging 1.00
R4778:Nphp4 UTSW 4 152,640,748 (GRCm39) missense probably benign 0.44
R4783:Nphp4 UTSW 4 152,639,003 (GRCm39) missense probably benign 0.00
R4784:Nphp4 UTSW 4 152,639,003 (GRCm39) missense probably benign 0.00
R4974:Nphp4 UTSW 4 152,622,250 (GRCm39) missense probably damaging 1.00
R5053:Nphp4 UTSW 4 152,628,919 (GRCm39) splice site probably null
R5117:Nphp4 UTSW 4 152,608,689 (GRCm39) splice site probably null
R5128:Nphp4 UTSW 4 152,587,448 (GRCm39) missense probably benign 0.01
R5665:Nphp4 UTSW 4 152,590,942 (GRCm39) missense probably benign 0.25
R5890:Nphp4 UTSW 4 152,631,536 (GRCm39) missense probably benign 0.44
R6171:Nphp4 UTSW 4 152,628,906 (GRCm39) missense probably damaging 0.99
R6601:Nphp4 UTSW 4 152,587,464 (GRCm39) splice site probably null
R6772:Nphp4 UTSW 4 152,628,863 (GRCm39) missense probably benign 0.07
R6806:Nphp4 UTSW 4 152,622,558 (GRCm39) missense probably benign 0.02
R7006:Nphp4 UTSW 4 152,573,259 (GRCm39) missense probably benign 0.12
R7124:Nphp4 UTSW 4 152,640,141 (GRCm39) missense probably benign 0.07
R7381:Nphp4 UTSW 4 152,583,460 (GRCm39) missense possibly damaging 0.94
R7411:Nphp4 UTSW 4 152,639,174 (GRCm39) missense probably benign 0.25
R7638:Nphp4 UTSW 4 152,638,991 (GRCm39) missense probably benign 0.08
R7814:Nphp4 UTSW 4 152,628,860 (GRCm39) missense probably damaging 1.00
R7814:Nphp4 UTSW 4 152,608,729 (GRCm39) missense possibly damaging 0.93
R7841:Nphp4 UTSW 4 152,581,140 (GRCm39) missense probably benign 0.01
R8346:Nphp4 UTSW 4 152,645,778 (GRCm39) missense probably damaging 1.00
R8479:Nphp4 UTSW 4 152,608,747 (GRCm39) missense probably benign 0.01
R8995:Nphp4 UTSW 4 152,623,345 (GRCm39) missense probably damaging 1.00
R8997:Nphp4 UTSW 4 152,623,345 (GRCm39) missense probably damaging 1.00
R9075:Nphp4 UTSW 4 152,591,905 (GRCm39) missense probably damaging 1.00
R9089:Nphp4 UTSW 4 152,645,673 (GRCm39) missense possibly damaging 0.87
R9191:Nphp4 UTSW 4 152,640,687 (GRCm39) missense probably damaging 1.00
R9274:Nphp4 UTSW 4 152,640,056 (GRCm39) missense probably benign 0.05
R9311:Nphp4 UTSW 4 152,608,714 (GRCm39) missense probably damaging 0.99
R9383:Nphp4 UTSW 4 152,628,918 (GRCm39) critical splice donor site probably null
R9628:Nphp4 UTSW 4 152,568,966 (GRCm39) missense probably damaging 1.00
R9711:Nphp4 UTSW 4 152,623,434 (GRCm39) missense possibly damaging 0.77
R9712:Nphp4 UTSW 4 152,631,521 (GRCm39) missense probably benign 0.17
R9752:Nphp4 UTSW 4 152,621,737 (GRCm39) missense probably benign 0.00
R9790:Nphp4 UTSW 4 152,646,605 (GRCm39) missense probably null 0.64
R9791:Nphp4 UTSW 4 152,646,605 (GRCm39) missense probably null 0.64
T0970:Nphp4 UTSW 4 152,640,836 (GRCm39) missense probably damaging 1.00
X0058:Nphp4 UTSW 4 152,644,164 (GRCm39) missense possibly damaging 0.95
Z1177:Nphp4 UTSW 4 152,602,653 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTTCATTCACACTCGGTG -3'
(R):5'- TGACGGAAAAGCACAGCTCG -3'

Sequencing Primer
(F):5'- ACACTCGGTGTCCCTCCG -3'
(R):5'- AGCCTTTTATCACCCCGGG -3'
Posted On 2021-07-15