Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:Nr1h4'

735169

Institutional Source

Beutler Lab

Gene Symbol

Nr1h4

Ensembl Gene

ENSMUSG00000047638

Gene Name

nuclear receptor subfamily 1, group H, member 4

Synonyms

Rxrip14, FXR, HRR1, Fxr, RIP14

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R9800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89454234-89533585 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89454756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 474 (D474G)

Ref Sequence

ENSEMBL: ENSMUSP00000100933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058126] [ENSMUST00000105296] [ENSMUST00000105297]

AlphaFold

Q60641

Predicted Effect

probably damaging
Transcript: ENSMUST00000058126
AA Change: D470G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053092
Gene: ENSMUSG00000047638
AA Change: D470G

Domain	Start	End	E-Value	Type
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: D474G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100933
Gene: ENSMUSG00000047638
AA Change: D474G

Domain	Start	End	E-Value	Type
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: D460G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100934
Gene: ENSMUSG00000047638
AA Change: D460G

Domain	Start	End	E-Value	Type
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: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,520,060	I1009N	possibly damaging	Het
Adcy8	T	A	15: 64,699,246	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,753,868	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,272	N277K	probably damaging	Het
Ank2	A	T	3: 126,946,500	S1912T	unknown	Het
Ank3	T	A	10: 69,898,127	N740K	unknown	Het
Atp13a3	A	C	16: 30,340,233	I800S	probably benign	Het
AU041133	T	A	10: 82,150,845	C111S	probably damaging	Het
Azi2	T	A	9: 118,055,856	I211N	probably benign	Het
Btbd11	C	A	10: 85,388,215	A296E	unknown	Het
Camk2b	T	C	11: 5,972,408	N480S	probably damaging	Het
Card6	A	G	15: 5,099,220	V898A	probably benign	Het
Copb2	T	A	9: 98,579,028	M381K	probably damaging	Het
Crisp1	A	T	17: 40,305,180	M102K	probably damaging	Het
Dcxr	A	T	11: 120,727,258		probably benign	Het
Dennd5a	C	A	7: 109,901,167	R917L	probably benign	Het
Egflam	T	A	15: 7,250,044	T494S	probably benign	Het
Fkbpl	T	A	17: 34,645,717	M153K	probably benign	Het
Helz2	A	T	2: 181,240,823	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,749,992	T194A	probably benign	Het
Lman1l	T	C	9: 57,615,777	D133G	probably damaging	Het
Lrrc27	T	C	7: 139,227,997	M340T	probably benign	Het
Lum	T	A	10: 97,568,295	S17R	probably benign	Het
Malrd1	A	G	2: 15,842,594	K1182E	unknown	Het
Map3k2	A	T	18: 32,200,016	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,861,743	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,903,050	V387L	probably benign	Het
Nup205	T	C	6: 35,186,533	I144T	possibly damaging	Het
Olfr1122	G	T	2: 87,388,164	C153F	probably damaging	Het
Olfr1309	G	A	2: 111,983,849	S75L	possibly damaging	Het
Olfr23	C	A	11: 73,941,160	L305I	probably benign	Het
Olfr444	A	T	6: 42,956,157	I220F	probably damaging	Het
Olfr566	T	C	7: 102,856,886	Y132C	probably benign	Het
Olfr732	G	A	14: 50,282,244	T3I	probably benign	Het
Pkn3	C	T	2: 30,083,278	R371*	probably null	Het
Plin2	A	T	4: 86,668,505	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 147,016,271	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,118,083	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,131,352	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,298,568	V316L	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Spata31d1d	T	C	13: 59,726,823	H966R	possibly damaging	Het
Speg	C	A	1: 75,422,714	D2268E	probably benign	Het
Srp54c	A	G	12: 55,250,026	I170V	probably benign	Het
Syde2	A	G	3: 145,998,609	R439G	probably benign	Het
Tcof1	T	C	18: 60,816,486	K1155R	unknown	Het
Tmem184c	T	C	8: 77,596,458	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,710,212	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,743,250	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,002,538	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,401,425	V711E	probably damaging	Het
Vps16	T	C	2: 130,440,485	F413L	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	Het
Wasf1	T	C	10: 40,936,697	I494T	unknown	Het
Wdr36	A	G	18: 32,852,647	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,335,437	C134*	probably null	Het

Other mutations in Nr1h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Nr1h4	APN	10	89478807	missense	probably benign	0.42
IGL02628:Nr1h4	APN	10	89473839	missense	probably damaging	1.00
Aeronaut	UTSW	10	89498229	nonsense	probably null
I1329:Nr1h4	UTSW	10	89483362	splice site	probably benign
IGL02837:Nr1h4	UTSW	10	89516480	missense	probably benign	0.00
R0590:Nr1h4	UTSW	10	89456567	missense	probably damaging	0.99
R0645:Nr1h4	UTSW	10	89506528	missense	probably benign	0.08
R1887:Nr1h4	UTSW	10	89454867	missense	possibly damaging	0.64
R1905:Nr1h4	UTSW	10	89480559	missense	possibly damaging	0.85
R2471:Nr1h4	UTSW	10	89473894	missense	probably damaging	1.00
R2921:Nr1h4	UTSW	10	89498361	missense	probably damaging	1.00
R3177:Nr1h4	UTSW	10	89478788	missense	possibly damaging	0.89
R3277:Nr1h4	UTSW	10	89478788	missense	possibly damaging	0.89
R4656:Nr1h4	UTSW	10	89498253	missense	probably benign	0.00
R4676:Nr1h4	UTSW	10	89473874	missense	probably damaging	1.00
R4901:Nr1h4	UTSW	10	89478797	missense	possibly damaging	0.68
R4993:Nr1h4	UTSW	10	89498180	missense	probably benign	0.01
R5117:Nr1h4	UTSW	10	89478422	missense	probably damaging	1.00
R5131:Nr1h4	UTSW	10	89483455	missense	probably damaging	0.99
R5176:Nr1h4	UTSW	10	89498255	missense	probably benign	0.02
R5241:Nr1h4	UTSW	10	89483489	missense	probably damaging	1.00
R5580:Nr1h4	UTSW	10	89516440	missense	probably benign	0.16
R6114:Nr1h4	UTSW	10	89478816	missense	possibly damaging	0.61
R6814:Nr1h4	UTSW	10	89454745	missense	probably damaging	0.98
R6888:Nr1h4	UTSW	10	89456542	missense	probably damaging	1.00
R6990:Nr1h4	UTSW	10	89454930	missense	probably benign	0.18
R7141:Nr1h4	UTSW	10	89498229	nonsense	probably null
R7427:Nr1h4	UTSW	10	89498405	missense	probably benign	0.00
R7428:Nr1h4	UTSW	10	89498405	missense	probably benign	0.00
R7560:Nr1h4	UTSW	10	89498261	missense	probably benign
R7986:Nr1h4	UTSW	10	89454772	missense	possibly damaging	0.46
R8881:Nr1h4	UTSW	10	89483489	missense	probably damaging	1.00
R9365:Nr1h4	UTSW	10	89483453	missense	probably damaging	0.96
R9423:Nr1h4	UTSW	10	89473826	missense	possibly damaging	0.81
R9659:Nr1h4	UTSW	10	89478776	critical splice donor site	probably null
R9776:Nr1h4	UTSW	10	89483449	missense	probably damaging	1.00
R9788:Nr1h4	UTSW	10	89478776	critical splice donor site	probably null
R9792:Nr1h4	UTSW	10	89478789	missense	probably benign	0.02
R9795:Nr1h4	UTSW	10	89478789	missense	probably benign	0.02
X0023:Nr1h4	UTSW	10	89454844	missense	possibly damaging	0.45
Z1176:Nr1h4	UTSW	10	89498350	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTACAACCGTGGGAGGTG -3'
(R):5'- GCCATTGCCATAATTACCCCTG -3'

Sequencing Primer
(F):5'- CAACCGTGGGAGGTGTATAATTGC -3'
(R):5'- CATTGCCATAATTACCCCTGATTAC -3'

Posted On

2022-11-14