Mutagenetix > Incidental Mutation

Incidental Mutation 'R5617:Nr1h5'

439569

Institutional Source

Beutler Lab

Gene Symbol

Nr1h5

Ensembl Gene

ENSMUSG00000048938

Gene Name

nuclear receptor subfamily 1, group H, member 5

Synonyms

FXRB

MMRRC Submission

043276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102846974-102871449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102855145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 319 (L319I)

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: L319I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: L319I

Domain	Start	End	E-Value	Type
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: L261I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: L261I

Domain	Start	End	E-Value	Type
ZnF_C4	78	132	1.17e-7	SMART
HOLI	231	416	1.74e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000196983
AA Change: L319I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: L319I

Domain	Start	End	E-Value	Type
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: L319I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: L319I

Domain	Start	End	E-Value	Type
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: L319I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: L319I

Domain	Start	End	E-Value	Type
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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,227,891 (GRCm39)	L645F	probably benign	Het
Acss3	T	C	10: 106,787,851 (GRCm39)	Y522C	probably damaging	Het
Asb18	A	G	1: 89,882,184 (GRCm39)	V118A	possibly damaging	Het
Aste1	T	A	9: 105,275,034 (GRCm39)	C8S	probably benign	Het
Atp10a	A	G	7: 58,453,423 (GRCm39)	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,854 (GRCm39)	D105G	probably damaging	Het
Cenpb	T	C	2: 131,020,934 (GRCm39)	E288G	probably damaging	Het
Clcnka	C	T	4: 141,116,628 (GRCm39)	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407 (GRCm39)	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,182,933 (GRCm39)	S917P	probably benign	Het
Fam135b	A	T	15: 71,493,865 (GRCm39)	D21E	probably damaging	Het
Fam174a	T	C	1: 95,241,972 (GRCm39)	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,639,042 (GRCm39)	Y1087H	probably damaging	Het
Gm7275	A	T	16: 47,894,527 (GRCm39)		noncoding transcript	Het
Gm9271	G	T	7: 39,013,076 (GRCm39)		noncoding transcript	Het
Grm2	T	C	9: 106,528,275 (GRCm39)		probably null	Het
Htt	T	A	5: 35,028,150 (GRCm39)	V1802D	possibly damaging	Het
Ighv1-75	C	A	12: 115,797,874 (GRCm39)	G16V	probably benign	Het
Krt78	G	A	15: 101,856,044 (GRCm39)	T589I	probably damaging	Het
Lama3	T	C	18: 12,631,993 (GRCm39)		probably benign	Het
Lbr	A	T	1: 181,656,467 (GRCm39)	V227D	probably benign	Het
Lsamp	T	C	16: 41,954,786 (GRCm39)	V211A	probably damaging	Het
Map3k19	G	A	1: 127,750,703 (GRCm39)	R883C	probably damaging	Het
Marchf8	A	C	6: 116,380,481 (GRCm39)	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,689,167 (GRCm39)	M187K	probably benign	Het
Ncdn	G	A	4: 126,638,840 (GRCm39)	R660C	probably damaging	Het
Notum	A	T	11: 120,547,171 (GRCm39)	Y332*	probably null	Het
Or51q1	A	T	7: 103,628,921 (GRCm39)	H180L	possibly damaging	Het
Or8k35	T	A	2: 86,424,345 (GRCm39)	I276L	probably benign	Het
Osbpl5	T	C	7: 143,246,684 (GRCm39)	D765G	possibly damaging	Het
Parp3	C	T	9: 106,351,704 (GRCm39)	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,471,504 (GRCm39)		probably benign	Het
Pcdha9	T	G	18: 37,131,869 (GRCm39)	S313A	probably benign	Het
Pfkm	A	G	15: 98,020,107 (GRCm39)	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,727,765 (GRCm39)	R375*	probably null	Het
Phactr2	A	G	10: 13,349,809 (GRCm39)	S72P	possibly damaging	Het
Plaat1	A	T	16: 29,039,162 (GRCm39)	R81*	probably null	Het
Plec	A	G	15: 76,058,732 (GRCm39)	L3600P	probably damaging	Het
Pou6f1	G	A	15: 100,483,874 (GRCm39)	T208M	possibly damaging	Het
Rabep1	C	T	11: 70,808,355 (GRCm39)	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,301,489 (GRCm39)	F687C	probably damaging	Het
Ranbp6	A	G	19: 29,789,863 (GRCm39)	F163S	probably damaging	Het
Rcor3	T	C	1: 191,804,430 (GRCm39)	N240D	probably benign	Het
Samd13	C	A	3: 146,352,065 (GRCm39)	K95N	probably benign	Het
Slc25a17	G	T	15: 81,244,975 (GRCm39)		probably benign	Het
Slfn8	G	T	11: 82,895,547 (GRCm39)	H420N	probably benign	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Stim2	G	A	5: 54,267,075 (GRCm39)	E21K	probably damaging	Het
Tmem163	A	G	1: 127,479,067 (GRCm39)	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,834 (GRCm39)	I209T	probably benign	Het
Tubal3	T	A	13: 3,983,432 (GRCm39)	L404H	probably damaging	Het
Ubqln3	A	G	7: 103,791,640 (GRCm39)	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,901 (GRCm39)	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 9,904,861 (GRCm39)	H326L	probably damaging	Het

Other mutations in Nr1h5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GACATTTGTTCCTACACTAACTGG -3'
(R):5'- TGCTGATAAAAGTGCCCCAAAATAG -3'

Sequencing Primer
(F):5'- AGCAGGGCTTTAAGATCCTCCTTAG -3'
(R):5'- GTTATTCCCCAGAAGCACT -3'

Posted On

2016-11-08