Incidental Mutation 'R0035:Nr1h5'
ID 19397
Institutional Source Beutler Lab
Gene Symbol Nr1h5
Ensembl Gene ENSMUSG00000048938
Gene Name nuclear receptor subfamily 1, group H, member 5
Synonyms FXRB
MMRRC Submission 038329-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R0035 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 3
Chromosomal Location 102846974-102871449 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 102856889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 208 (K208*)
Ref Sequence ENSEMBL: ENSMUSP00000142345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058899] [ENSMUST00000196135] [ENSMUST00000196983] [ENSMUST00000197412] [ENSMUST00000198472]
AlphaFold E9Q5A6
Predicted Effect probably null
Transcript: ENSMUST00000058899
AA Change: K208*
SMART Domains Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: K208*

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 noncoding transcript
Transcript: ENSMUST00000083774
Predicted Effect probably null
Transcript: ENSMUST00000196135
AA Change: K150*
SMART Domains Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: K150*

DomainStartEndE-ValueType
ZnF_C4 78 132 1.17e-7 SMART
HOLI 231 416 1.74e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000196983
AA Change: K208*
SMART Domains Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: K208*

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 null
Transcript: ENSMUST00000197412
AA Change: K208*
SMART Domains Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: K208*

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 null
Transcript: ENSMUST00000198472
AA Change: K208*
SMART Domains Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: K208*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 99% (70/71)
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040N11Rik T C 7: 81,438,297 (GRCm39) T20A probably benign Het
Aadacl4 A G 4: 144,344,511 (GRCm39) T96A probably damaging Het
Abcb6 A G 1: 75,151,651 (GRCm39) V473A possibly damaging Het
Abo C A 2: 26,733,385 (GRCm39) K273N possibly damaging Het
Acvr1c A G 2: 58,205,791 (GRCm39) probably benign Het
Adcy8 A T 15: 64,571,217 (GRCm39) V1142D probably benign Het
Akna T A 4: 63,300,682 (GRCm39) H591L probably benign Het
Aox1 T C 1: 58,393,581 (GRCm39) V1247A probably benign Het
Ap4b1 T C 3: 103,727,980 (GRCm39) probably benign Het
Armh3 A T 19: 45,879,679 (GRCm39) M558K probably damaging Het
Atm A G 9: 53,424,480 (GRCm39) V607A probably benign Het
Bltp1 T A 3: 37,041,747 (GRCm39) Y2708* probably null Het
Cass4 C T 2: 172,258,412 (GRCm39) P137S probably damaging Het
Cfap53 A G 18: 74,433,278 (GRCm39) E121G probably damaging Het
Chmp6 T C 11: 119,807,508 (GRCm39) V31A probably damaging Het
Clec4a3 T A 6: 122,944,508 (GRCm39) Y185N probably damaging Het
Clic5 A G 17: 44,586,200 (GRCm39) T230A probably damaging Het
Clspn G T 4: 126,458,796 (GRCm39) probably null Het
Cntn1 T A 15: 92,129,969 (GRCm39) probably benign Het
Col4a3 G A 1: 82,650,474 (GRCm39) G577R unknown Het
Defa21 T A 8: 21,515,784 (GRCm39) probably null Het
Deup1 T C 9: 15,511,117 (GRCm39) R221G possibly damaging Het
Dnah8 A T 17: 30,902,595 (GRCm39) probably benign Het
Dnase1l2 A G 17: 24,660,049 (GRCm39) V273A probably damaging Het
Gm5134 T A 10: 75,829,698 (GRCm39) F328Y probably benign Het
Golph3 A T 15: 12,339,776 (GRCm39) E96D probably damaging Het
Hspd1 A G 1: 55,122,942 (GRCm39) V151A probably benign Het
Htr1f A C 16: 64,746,860 (GRCm39) I144S probably damaging Het
Il23r A G 6: 67,450,772 (GRCm39) probably benign Het
Il25 A G 14: 55,170,553 (GRCm39) E42G probably damaging Het
Il36b A T 2: 24,049,890 (GRCm39) H167L probably benign Het
Klrb1-ps1 C T 6: 129,106,306 (GRCm39) A149V possibly damaging Het
Kmt2e T A 5: 23,690,619 (GRCm39) probably benign Het
Ktn1 A G 14: 47,967,836 (GRCm39) N1167D probably benign Het
Lama4 T A 10: 38,948,734 (GRCm39) D832E probably benign Het
Map1b A G 13: 99,571,846 (GRCm39) S292P probably damaging Het
Map6 C T 7: 98,966,815 (GRCm39) T345I probably damaging Het
Mark2 A T 19: 7,262,017 (GRCm39) probably benign Het
Me3 C A 7: 89,500,967 (GRCm39) H559Q probably benign Het
Myo1b A G 1: 51,817,541 (GRCm39) F574L probably damaging Het
Nos2 T C 11: 78,836,553 (GRCm39) S431P probably damaging Het
Nup214 T C 2: 31,880,379 (GRCm39) probably null Het
Obp2b T C 2: 25,628,645 (GRCm39) L133P probably damaging Het
Or14a259 T C 7: 86,013,395 (GRCm39) D50G possibly damaging Het
Or5k1 A T 16: 58,617,485 (GRCm39) C241* probably null Het
Osbp2 C T 11: 3,667,997 (GRCm39) probably benign Het
Ptafr C A 4: 132,306,864 (GRCm39) L85I probably benign Het
Ptprk T A 10: 28,139,504 (GRCm39) Y76* probably null Het
Rad50 A G 11: 53,545,854 (GRCm39) probably benign Het
Rasef G T 4: 73,681,091 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Tbc1d1 T A 5: 64,414,080 (GRCm39) I18N probably damaging Het
Tbc1d17 T C 7: 44,490,832 (GRCm39) N587D probably benign Het
Trank1 A T 9: 111,195,844 (GRCm39) K1289N probably benign Het
Tspyl3 A G 2: 153,066,240 (GRCm39) S333P probably damaging Het
Ush2a G A 1: 188,089,085 (GRCm39) V347I probably benign Het
Usp17le G T 7: 104,418,269 (GRCm39) S291* probably null Het
Usp24 T A 4: 106,225,224 (GRCm39) S619T probably benign Het
Vmn2r10 T C 5: 109,145,467 (GRCm39) probably benign Het
Vmn2r78 A G 7: 86,569,413 (GRCm39) E102G probably benign Het
Vwa3b G A 1: 37,204,770 (GRCm39) V85I possibly damaging Het
Wwp1 A C 4: 19,631,116 (GRCm39) I639R probably damaging Het
Xpo5 A G 17: 46,551,101 (GRCm39) T1001A probably benign Het
Zc3h12c A T 9: 52,055,047 (GRCm39) M235K probably benign Het
Zfp619 G A 7: 39,186,706 (GRCm39) G912D probably damaging 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
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
R7235:Nr1h5 UTSW 3 102,856,358 (GRCm39) critical splice donor site probably null
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'- AGTCCCTTGGTAAACTTCATTAGCCCTT -3'
(R):5'- AGGAAATTTAATAGATGCAGACATGCACGA -3'

Sequencing Primer
(F):5'- GTATTCAGAAGCCGATGTTCC -3'
(R):5'- ACAGTGTTGTTTTCCGAGCC -3'
Posted On 2013-04-11