Incidental Mutation 'R5117:Nr1h4'
ID 392692
Institutional Source Beutler Lab
Gene Symbol Nr1h4
Ensembl Gene ENSMUSG00000047638
Gene Name nuclear receptor subfamily 1, group H, member 4
Synonyms Rxrip14, HRR1, RIP14, Fxr, FXR
MMRRC Submission 042705-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # R5117 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 89290096-89369447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89314284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 295 (N295D)
Ref Sequence ENSEMBL: ENSMUSP00000053092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]
AlphaFold Q60641
Predicted Effect probably damaging
Transcript: ENSMUST00000058126
AA Change: N295D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: N295D

DomainStartEndE-ValueType
ZnF_C4 135 206 1.93e-37 SMART
Blast:HOLI 235 285 4e-19 BLAST
HOLI 301 456 9.43e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105296
AA Change: N299D

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: N299D

DomainStartEndE-ValueType
ZnF_C4 135 206 1.93e-37 SMART
Blast:HOLI 239 289 4e-19 BLAST
HOLI 305 460 9.43e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105297
AA Change: N285D

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: N285D

DomainStartEndE-ValueType
ZnF_C4 121 192 1.93e-37 SMART
Blast:HOLI 225 275 3e-19 BLAST
HOLI 291 446 9.43e-32 SMART
Meta Mutation Damage Score 0.1690 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit increased bile salts and abnormal liver morphology and physiology. Mice homozygous for one knock-out allele also exhibit abnormal lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G A 9: 124,055,715 (GRCm39) T403I probably benign Het
4921509C19Rik T C 2: 151,314,460 (GRCm39) E406G probably benign Het
Abca8b T C 11: 109,857,629 (GRCm39) E641G probably damaging Het
Agrn T C 4: 156,270,010 (GRCm39) N49S probably benign Het
Cacna1b A G 2: 24,622,340 (GRCm39) S215P probably damaging Het
Cacna1g T A 11: 94,323,329 (GRCm39) I1292F probably damaging Het
Card14 T A 11: 119,229,076 (GRCm39) I662N probably damaging Het
Cep135 A G 5: 76,779,276 (GRCm39) K762R probably benign Het
Ces1b A G 8: 93,799,837 (GRCm39) probably null Het
Erich6 T G 3: 58,530,626 (GRCm39) I448L probably benign Het
Fads3 T G 19: 10,019,322 (GRCm39) probably null Het
Fam234a A G 17: 26,432,512 (GRCm39) F546L probably benign Het
Fbxl9 T A 8: 106,039,492 (GRCm39) R595* probably null Het
Gm10717 T C 9: 3,025,625 (GRCm39) L70S probably benign Het
Gm11787 G T 4: 3,509,524 (GRCm39) noncoding transcript Het
Gm5519 A G 19: 33,802,471 (GRCm39) *171W probably null Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Hmcn2 T G 2: 31,348,061 (GRCm39) C4902W possibly damaging Het
Hsp90aa1 T C 12: 110,661,698 (GRCm39) N106S possibly damaging Het
Il18 A T 9: 50,492,809 (GRCm39) N125I possibly damaging Het
Ints9 G T 14: 65,230,540 (GRCm39) E156* probably null Het
Kalrn T C 16: 33,853,971 (GRCm39) probably null Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Lipo3 A T 19: 33,536,952 (GRCm39) M256K probably benign Het
Mapk6 C A 9: 75,305,017 (GRCm39) M133I possibly damaging Het
Med21 T A 6: 146,548,781 (GRCm39) probably benign Het
Myrf T A 19: 10,189,857 (GRCm39) E984V probably damaging Het
Naga A C 15: 82,221,657 (GRCm39) M28R probably damaging Het
Nphp4 T G 4: 152,608,689 (GRCm39) probably null Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Or13n4 A T 7: 106,422,869 (GRCm39) I288N probably damaging Het
Or55b3 T C 7: 102,126,709 (GRCm39) M123V probably damaging Het
Parp9 C A 16: 35,792,202 (GRCm39) probably null Het
Pax4 T C 6: 28,446,278 (GRCm39) I72V probably benign Het
Pcdh7 A G 5: 57,879,090 (GRCm39) I542V probably benign Het
Pcdhgb7 C T 18: 37,885,939 (GRCm39) R370W probably damaging Het
Pik3r1 G A 13: 101,828,744 (GRCm39) T18I probably benign Het
Ppara A G 15: 85,661,962 (GRCm39) I68V probably benign Het
Ptch2 T A 4: 116,963,146 (GRCm39) I211N probably damaging Het
Senp6 G A 9: 80,038,028 (GRCm39) V715M probably damaging Het
Serf2 C T 2: 121,281,184 (GRCm39) P41L possibly damaging Het
Serpina12 T C 12: 104,004,009 (GRCm39) I208V possibly damaging Het
Serpinf2 T C 11: 75,323,326 (GRCm39) D460G probably benign Het
Sh3d21 T C 4: 126,045,665 (GRCm39) E338G probably damaging Het
Slc7a11 T C 3: 50,333,599 (GRCm39) D384G probably damaging Het
Snx15 A G 19: 6,174,181 (GRCm39) probably null Het
Supt16 A G 14: 52,420,549 (GRCm39) F84L probably damaging Het
Tamalin A G 15: 101,128,418 (GRCm39) D152G probably damaging Het
Thoc2l A G 5: 104,668,121 (GRCm39) Y881C probably damaging Het
Tm9sf2 C A 14: 122,380,913 (GRCm39) Q169K probably benign Het
Trim56 A T 5: 137,142,832 (GRCm39) V228E probably benign Het
Triqk T A 4: 12,980,390 (GRCm39) probably null Het
Ttc21a T A 9: 119,795,631 (GRCm39) I1155N possibly damaging Het
Ube3b T G 5: 114,557,692 (GRCm39) Y1059D probably damaging Het
Vmn2r14 T C 5: 109,363,961 (GRCm39) T652A probably benign Het
Wdr4 A G 17: 31,718,798 (GRCm39) V304A probably benign Het
Wwp2 T C 8: 108,280,694 (GRCm39) S646P possibly damaging Het
Zfand5 T A 19: 21,257,009 (GRCm39) S130T probably benign Het
Zfp599 A T 9: 22,161,396 (GRCm39) Y256* probably null Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 T A 13: 92,642,197 (GRCm39) I1209L possibly damaging Het
Other mutations in Nr1h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Nr1h4 APN 10 89,314,669 (GRCm39) missense probably benign 0.42
IGL02628:Nr1h4 APN 10 89,309,701 (GRCm39) missense probably damaging 1.00
Aeronaut UTSW 10 89,334,091 (GRCm39) nonsense probably null
I1329:Nr1h4 UTSW 10 89,319,224 (GRCm39) splice site probably benign
IGL02837:Nr1h4 UTSW 10 89,352,342 (GRCm39) missense probably benign 0.00
R0590:Nr1h4 UTSW 10 89,292,429 (GRCm39) missense probably damaging 0.99
R0645:Nr1h4 UTSW 10 89,342,390 (GRCm39) missense probably benign 0.08
R1887:Nr1h4 UTSW 10 89,290,729 (GRCm39) missense possibly damaging 0.64
R1905:Nr1h4 UTSW 10 89,316,421 (GRCm39) missense possibly damaging 0.85
R2471:Nr1h4 UTSW 10 89,309,756 (GRCm39) missense probably damaging 1.00
R2921:Nr1h4 UTSW 10 89,334,223 (GRCm39) missense probably damaging 1.00
R3177:Nr1h4 UTSW 10 89,314,650 (GRCm39) missense possibly damaging 0.89
R3277:Nr1h4 UTSW 10 89,314,650 (GRCm39) missense possibly damaging 0.89
R4656:Nr1h4 UTSW 10 89,334,115 (GRCm39) missense probably benign 0.00
R4676:Nr1h4 UTSW 10 89,309,736 (GRCm39) missense probably damaging 1.00
R4901:Nr1h4 UTSW 10 89,314,659 (GRCm39) missense possibly damaging 0.68
R4993:Nr1h4 UTSW 10 89,334,042 (GRCm39) missense probably benign 0.01
R5131:Nr1h4 UTSW 10 89,319,317 (GRCm39) missense probably damaging 0.99
R5176:Nr1h4 UTSW 10 89,334,117 (GRCm39) missense probably benign 0.02
R5241:Nr1h4 UTSW 10 89,319,351 (GRCm39) missense probably damaging 1.00
R5580:Nr1h4 UTSW 10 89,352,302 (GRCm39) missense probably benign 0.16
R6114:Nr1h4 UTSW 10 89,314,678 (GRCm39) missense possibly damaging 0.61
R6814:Nr1h4 UTSW 10 89,290,607 (GRCm39) missense probably damaging 0.98
R6888:Nr1h4 UTSW 10 89,292,404 (GRCm39) missense probably damaging 1.00
R6990:Nr1h4 UTSW 10 89,290,792 (GRCm39) missense probably benign 0.18
R7141:Nr1h4 UTSW 10 89,334,091 (GRCm39) nonsense probably null
R7427:Nr1h4 UTSW 10 89,334,267 (GRCm39) missense probably benign 0.00
R7428:Nr1h4 UTSW 10 89,334,267 (GRCm39) missense probably benign 0.00
R7560:Nr1h4 UTSW 10 89,334,123 (GRCm39) missense probably benign
R7986:Nr1h4 UTSW 10 89,290,634 (GRCm39) missense possibly damaging 0.46
R8881:Nr1h4 UTSW 10 89,319,351 (GRCm39) missense probably damaging 1.00
R9365:Nr1h4 UTSW 10 89,319,315 (GRCm39) missense probably damaging 0.96
R9423:Nr1h4 UTSW 10 89,309,688 (GRCm39) missense possibly damaging 0.81
R9659:Nr1h4 UTSW 10 89,314,638 (GRCm39) critical splice donor site probably null
R9776:Nr1h4 UTSW 10 89,319,311 (GRCm39) missense probably damaging 1.00
R9788:Nr1h4 UTSW 10 89,314,638 (GRCm39) critical splice donor site probably null
R9792:Nr1h4 UTSW 10 89,314,651 (GRCm39) missense probably benign 0.02
R9795:Nr1h4 UTSW 10 89,314,651 (GRCm39) missense probably benign 0.02
R9800:Nr1h4 UTSW 10 89,290,618 (GRCm39) missense probably benign 0.03
X0023:Nr1h4 UTSW 10 89,290,706 (GRCm39) missense possibly damaging 0.45
Z1176:Nr1h4 UTSW 10 89,334,212 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAATCCCGGGGATAGATCGG -3'
(R):5'- AGTCTCAGGTCTATCTTGTAAATGG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- CAGGTCTATCTTGTAAATGGTAATGG -3'
Posted On 2016-06-15