Incidental Mutation 'R7235:Nr1h5'
ID 562745
Institutional Source Beutler Lab
Gene Symbol Nr1h5
Ensembl Gene ENSMUSG00000048938
Gene Name nuclear receptor subfamily 1, group H, member 5
Synonyms FXRB
MMRRC Submission 045305-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R7235 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 102846974-102871449 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 102856358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000052557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058899] [ENSMUST00000196135] [ENSMUST00000196983] [ENSMUST00000197412] [ENSMUST00000198472]
AlphaFold E9Q5A6
Predicted Effect probably null
Transcript: ENSMUST00000058899
SMART Domains Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938

DomainStartEndE-ValueType
Blast:HOLI 2 47 5e-9 BLAST
ZnF_C4 119 190 2.51e-36 SMART
HOLI 289 474 1.74e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000196135
SMART Domains Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938

DomainStartEndE-ValueType
ZnF_C4 78 132 1.17e-7 SMART
HOLI 231 416 1.74e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000196983
SMART Domains Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938

DomainStartEndE-ValueType
Blast:HOLI 2 47 5e-9 BLAST
ZnF_C4 119 190 2.51e-36 SMART
HOLI 289 466 1.76e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197412
SMART Domains Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938

DomainStartEndE-ValueType
Blast:HOLI 2 47 4e-9 BLAST
ZnF_C4 119 190 1e-38 SMART
Pfam:Hormone_recep 274 362 6e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198472
SMART Domains Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938

DomainStartEndE-ValueType
Blast:HOLI 2 47 4e-9 BLAST
ZnF_C4 119 190 1e-38 SMART
Pfam:Hormone_recep 273 367 5.8e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (61/62)
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,852 (GRCm39) M3712K unknown Het
Bri3bp A G 5: 125,518,748 (GRCm39) E8G unknown Het
Brip1 C T 11: 86,029,701 (GRCm39) R611Q possibly damaging Het
Carm1 T G 9: 21,498,701 (GRCm39) probably benign Het
Catsper4 A T 4: 133,939,892 (GRCm39) probably null Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cip2a T A 16: 48,821,422 (GRCm39) L176H probably damaging Het
Clk4 A G 11: 51,167,012 (GRCm39) D330G probably damaging Het
Dcdc2c A G 12: 28,520,718 (GRCm39) S453P Het
Ddx46 G A 13: 55,811,053 (GRCm39) V550I probably benign Het
Dennd1a T C 2: 37,691,073 (GRCm39) N676D probably benign Het
Dnah3 T C 7: 119,631,893 (GRCm39) N1365S probably damaging Het
Dsg1b T C 18: 20,532,480 (GRCm39) V508A probably benign Het
Dus2 T C 8: 106,742,587 (GRCm39) V39A possibly damaging Het
Dync1li1 T C 9: 114,544,231 (GRCm39) V301A possibly damaging Het
Efcc1 T G 6: 87,730,780 (GRCm39) S513A probably benign Het
Eif3f T C 7: 108,537,295 (GRCm39) V167A possibly damaging Het
Ephb2 A G 4: 136,421,139 (GRCm39) Y404H probably damaging Het
Eqtn A T 4: 94,811,936 (GRCm39) D152E probably damaging Het
Ercc5 A C 1: 44,217,363 (GRCm39) K902T possibly damaging Het
Erlec1 T A 11: 30,900,751 (GRCm39) E139V possibly damaging Het
Evl G A 12: 108,614,719 (GRCm39) G38R probably damaging Het
Fads2b T G 2: 85,330,563 (GRCm39) H248P probably damaging Het
Foxd2 T C 4: 114,765,468 (GRCm39) N184S unknown Het
Frem3 T C 8: 81,417,354 (GRCm39) Y2020H probably benign Het
Ganc T C 2: 120,264,198 (GRCm39) F384L probably damaging Het
Grin2a A G 16: 9,397,129 (GRCm39) L986P probably damaging Het
Ift140 A T 17: 25,239,619 (GRCm39) D92V possibly damaging Het
Inpp5b A G 4: 124,645,185 (GRCm39) K158E probably benign Het
Iscu T A 5: 113,914,943 (GRCm39) S152T probably benign Het
Isl2 C T 9: 55,451,455 (GRCm39) T115I probably benign Het
Kalrn T A 16: 33,996,131 (GRCm39) T1542S probably benign Het
Kat6a A G 8: 23,404,285 (GRCm39) D454G possibly damaging Het
Kcnj10 T C 1: 172,196,993 (GRCm39) I169T probably damaging Het
Klk12 T C 7: 43,422,723 (GRCm39) S217P probably damaging Het
Lancl1 T C 1: 67,077,694 (GRCm39) N14S probably benign Het
Map2 A G 1: 66,453,807 (GRCm39) Y899C probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Nup98 T C 7: 101,774,491 (GRCm39) T1515A probably damaging Het
Obscn A C 11: 58,971,666 (GRCm39) V2183G probably damaging Het
Or52n2 C T 7: 104,541,926 (GRCm39) R303Q probably benign Het
Osbpl8 A G 10: 111,105,288 (GRCm39) T248A probably benign Het
Pias3 T A 3: 96,611,679 (GRCm39) S533T probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plxna1 A G 6: 89,317,573 (GRCm39) Y680H probably damaging Het
Pnliprp2 A G 19: 58,763,659 (GRCm39) N436S probably benign Het
Pold1 T A 7: 44,191,244 (GRCm39) M196L probably benign Het
Prkdc G A 16: 15,532,127 (GRCm39) V1464I probably benign Het
Ptk2b G A 14: 66,394,536 (GRCm39) Q857* probably null Het
Qars1 T A 9: 108,387,331 (GRCm39) L185Q probably damaging Het
Rabep1 A G 11: 70,831,290 (GRCm39) N859S probably benign Het
Rnf19b A G 4: 128,977,571 (GRCm39) H156R Het
Sart3 T C 5: 113,891,703 (GRCm39) Q423R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc6a21 C T 7: 44,930,182 (GRCm39) H194Y probably damaging Het
Tcf4 G A 18: 69,790,866 (GRCm39) V420I probably damaging Het
Tjp1 T C 7: 64,968,321 (GRCm39) D701G probably benign Het
Trim42 T C 9: 97,251,761 (GRCm39) D46G probably damaging Het
Usp19 C T 9: 108,372,123 (GRCm39) R429* probably null Het
Uxs1 T C 1: 43,804,087 (GRCm39) N276S probably damaging Het
Vps50 A G 6: 3,588,078 (GRCm39) I684V probably benign Het
Yars2 T A 16: 16,122,556 (GRCm39) D307E probably benign Het
Zfp934 A T 13: 62,665,964 (GRCm39) C258S Het
Other mutations in Nr1h5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01829:Nr1h5 APN 3 102,856,395 (GRCm39) missense probably benign 0.02
IGL02021:Nr1h5 APN 3 102,855,058 (GRCm39) intron probably benign
IGL02025:Nr1h5 APN 3 102,856,942 (GRCm39) splice site probably benign
IGL02094:Nr1h5 APN 3 102,859,512 (GRCm39) nonsense probably null
R0035:Nr1h5 UTSW 3 102,856,889 (GRCm39) nonsense probably null
R0035:Nr1h5 UTSW 3 102,856,889 (GRCm39) nonsense probably null
R1200:Nr1h5 UTSW 3 102,855,178 (GRCm39) missense probably damaging 1.00
R1977:Nr1h5 UTSW 3 102,855,133 (GRCm39) missense probably damaging 1.00
R4173:Nr1h5 UTSW 3 102,859,546 (GRCm39) missense probably damaging 1.00
R4556:Nr1h5 UTSW 3 102,853,457 (GRCm39) missense probably benign 0.28
R5018:Nr1h5 UTSW 3 102,855,111 (GRCm39) missense probably damaging 1.00
R5471:Nr1h5 UTSW 3 102,856,442 (GRCm39) missense possibly damaging 0.74
R5617:Nr1h5 UTSW 3 102,855,145 (GRCm39) missense probably damaging 1.00
R5822:Nr1h5 UTSW 3 102,856,644 (GRCm39) missense probably damaging 1.00
R6243:Nr1h5 UTSW 3 102,856,380 (GRCm39) missense probably benign 0.00
R6442:Nr1h5 UTSW 3 102,848,427 (GRCm39) missense probably damaging 1.00
R6754:Nr1h5 UTSW 3 102,856,913 (GRCm39) missense probably damaging 1.00
R6789:Nr1h5 UTSW 3 102,865,677 (GRCm39) missense possibly damaging 0.81
R7294:Nr1h5 UTSW 3 102,852,578 (GRCm39) missense probably benign 0.00
R7756:Nr1h5 UTSW 3 102,856,925 (GRCm39) missense probably benign 0.00
R7882:Nr1h5 UTSW 3 102,856,931 (GRCm39) missense possibly damaging 0.80
R8187:Nr1h5 UTSW 3 102,861,986 (GRCm39) missense probably benign 0.14
R8738:Nr1h5 UTSW 3 102,862,015 (GRCm39) missense probably benign
R9051:Nr1h5 UTSW 3 102,853,427 (GRCm39) missense probably null 0.00
R9549:Nr1h5 UTSW 3 102,848,337 (GRCm39) missense probably benign 0.00
X0061:Nr1h5 UTSW 3 102,852,564 (GRCm39) splice site probably null
X0067:Nr1h5 UTSW 3 102,856,442 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- GAAATCTTTGGGCCAGAACGAG -3'
(R):5'- CCATTGCTGGCAAGAAATAACTTG -3'

Sequencing Primer
(F):5'- TCAGCAGTTAAGAGCCTGTC -3'
(R):5'- GCTGGCAAGAAATAACTTGTAATG -3'
Posted On 2019-06-26