Incidental Mutation 'R1200:Nr1h5'
ID 101285
Institutional Source Beutler Lab
Gene Symbol Nr1h5
Ensembl Gene ENSMUSG00000048938
Gene Name nuclear receptor subfamily 1, group H, member 5
Synonyms FXRB
MMRRC Submission 039270-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R1200 (G1)
Quality Score 172
Status Not validated
Chromosome 3
Chromosomal Location 102846974-102871449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102855178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 308 (F308L)
Ref Sequence ENSEMBL: ENSMUSP00000142345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058899] [ENSMUST00000196135] [ENSMUST00000196983] [ENSMUST00000197412] [ENSMUST00000198472]
AlphaFold E9Q5A6
Predicted Effect probably damaging
Transcript: ENSMUST00000058899
AA Change: F308L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: F308L

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 damaging
Transcript: ENSMUST00000196135
AA Change: F250L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: F250L

DomainStartEndE-ValueType
ZnF_C4 78 132 1.17e-7 SMART
HOLI 231 416 1.74e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196983
AA Change: F308L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: F308L

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 damaging
Transcript: ENSMUST00000197412
AA Change: F308L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: F308L

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 damaging
Transcript: ENSMUST00000198472
AA Change: F308L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: F308L

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: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.2%
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abcc2 A T 19: 43,822,426 (GRCm39) Q1421H probably damaging Het
Acat1 T A 9: 53,494,810 (GRCm39) I361F possibly damaging Het
Akp3 T A 1: 87,052,982 (GRCm39) I57N probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Axin2 C A 11: 108,822,376 (GRCm39) D309E probably damaging Het
Clstn3 G T 6: 124,436,129 (GRCm39) P207T probably damaging Het
Dip2b C A 15: 100,107,626 (GRCm39) A1212E probably benign Het
Dnah5 A G 15: 28,246,403 (GRCm39) I580M possibly damaging Het
Dpp3 T C 19: 4,973,157 (GRCm39) T146A probably benign Het
Fam227a A G 15: 79,496,738 (GRCm39) F613S possibly damaging Het
Fam83b T C 9: 76,399,594 (GRCm39) D503G probably damaging Het
Flot2 C T 11: 77,945,631 (GRCm39) T2M probably damaging Het
Herc1 T C 9: 66,393,406 (GRCm39) L4095S probably damaging Het
Kcnh7 T C 2: 62,607,739 (GRCm39) Y614C probably damaging Het
Lcp1 T A 14: 75,466,742 (GRCm39) F616L possibly damaging Het
Myh15 T A 16: 48,916,882 (GRCm39) Y401N probably damaging Het
Neb T C 2: 52,057,657 (GRCm39) Y6144C probably damaging Het
Ntn5 G T 7: 45,341,806 (GRCm39) V309L possibly damaging Het
Or51aa2 T A 7: 103,188,274 (GRCm39) T56S probably benign Het
Or8k21 A T 2: 86,145,477 (GRCm39) L51Q probably damaging Het
Pex1 G A 5: 3,656,411 (GRCm39) probably null Het
Pld1 A T 3: 28,103,435 (GRCm39) D380V probably damaging Het
Prdm1 A G 10: 44,326,126 (GRCm39) Y148H probably damaging Het
Ptchd3 T C 11: 121,722,087 (GRCm39) probably null Het
Rnf17 C T 14: 56,705,163 (GRCm39) T689I probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Twf1 A T 15: 94,484,239 (GRCm39) H94Q probably benign Het
Vmn2r13 T G 5: 109,322,068 (GRCm39) I210L probably damaging Het
Zbtb49 T C 5: 38,370,675 (GRCm39) E402G 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
R0035:Nr1h5 UTSW 3 102,856,889 (GRCm39) nonsense probably null
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'- TCTAAGGAGCACAGAAGCCCCA -3'
(R):5'- CCTAGTGCTGATAAAAGTGCCCCAAA -3'

Sequencing Primer
(F):5'- gtccccagcaccatagaag -3'
(R):5'- AAAGTGCCCCAAAATAGAAAAAAAG -3'
Posted On 2014-01-15