Incidental Mutation 'R6114:Nr1h4'
ID 485032
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 044263-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.758) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 89290096-89369447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89314678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 273 (N273Y)
Ref Sequence ENSEMBL: ENSMUSP00000053092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]
AlphaFold Q60641
Predicted Effect possibly damaging
Transcript: ENSMUST00000058126
AA Change: N273Y

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: N273Y

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 probably benign
Transcript: ENSMUST00000105296
AA Change: N277Y

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: N277Y

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: N263Y

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: N263Y

DomainStartEndE-ValueType
ZnF_C4 121 192 1.93e-37 SMART
Blast:HOLI 225 275 3e-19 BLAST
HOLI 291 446 9.43e-32 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably 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
R5117:Nr1h4 UTSW 10 89,314,284 (GRCm39) missense probably damaging 1.00
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
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'- TAGACCTGAGACTTCCTTTCCAATTG -3'
(R):5'- ACAGCTCTTGGAGGCTTTG -3'

Sequencing Primer
(F):5'- AGACTTCCTTTCCAATTGTTTAATGC -3'
(R):5'- GATCAGTGCACATACTGG -3'
Posted On 2017-08-16