Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Nr1h5'

505362

Institutional Source

Beutler Lab

Gene Symbol

Nr1h5

Ensembl Gene

ENSMUSG00000048938

Gene Name

nuclear receptor subfamily 1, group H, member 5

Synonyms

FXRB

MMRRC Submission

044365-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102846974-102871449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102856380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 300 (K300E)

Ref Sequence

ENSEMBL: ENSMUSP00000142799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058899] [ENSMUST00000196135] [ENSMUST00000196983] [ENSMUST00000197412] [ENSMUST00000198472]

AlphaFold

E9Q5A6

Predicted Effect

probably benign
Transcript: ENSMUST00000058899
AA Change: K300E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: K300E

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 benign
Transcript: ENSMUST00000196135
AA Change: K242E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: K242E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196983
AA Change: K300E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: K300E

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 benign
Transcript: ENSMUST00000197412
AA Change: K300E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: K300E

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 benign
Transcript: ENSMUST00000198472
AA Change: K300E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: K300E

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,450,809 (GRCm39)	S331P	probably damaging	Het
Akap9	T	G	5: 4,115,000 (GRCm39)		probably null	Het
Ankef1	A	G	2: 136,379,077 (GRCm39)	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,336,530 (GRCm39)	E788G	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,093,868 (GRCm39)	I220K	probably damaging	Het
Atg16l2	A	C	7: 100,941,536 (GRCm39)	*404E	probably null	Het
Atp4a	T	C	7: 30,415,382 (GRCm39)	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 106,292,495 (GRCm39)	E17G	probably benign	Het
Bcat2	T	C	7: 45,237,691 (GRCm39)	V279A	probably benign	Het
Birc6	T	G	17: 74,916,382 (GRCm39)	M459R	probably damaging	Het
Bsn	T	C	9: 107,984,760 (GRCm39)	Y3098C	unknown	Het
Btaf1	T	A	19: 36,958,520 (GRCm39)	M679K	probably benign	Het
Cirop	T	A	14: 54,933,216 (GRCm39)	R322S	probably damaging	Het
Col6a4	T	C	9: 105,890,589 (GRCm39)	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,064,740 (GRCm39)	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,446,288 (GRCm39)	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,550,277 (GRCm39)	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 25,761,044 (GRCm39)	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,986,131 (GRCm39)	V233E	probably benign	Het
Dnhd1	A	T	7: 105,301,216 (GRCm39)	H191L	probably damaging	Het
Dsg3	T	A	18: 20,672,781 (GRCm39)	D817E	probably damaging	Het
Dytn	T	C	1: 63,686,680 (GRCm39)	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,163,091 (GRCm39)	E123*	probably null	Het
Fchsd2	T	C	7: 100,921,016 (GRCm39)		probably benign	Het
Fmo9	T	C	1: 166,494,938 (GRCm39)	E270G	probably benign	Het
Folr1	T	A	7: 101,513,172 (GRCm39)	H41L	probably damaging	Het
Gm7298	A	G	6: 121,756,096 (GRCm39)	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,530,963 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,084,362 (GRCm39)	N285K	possibly damaging	Het
Lca5l	G	A	16: 95,980,112 (GRCm39)	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,439,604 (GRCm39)	H354R	probably benign	Het
Msh6	T	A	17: 88,290,999 (GRCm39)	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,351,182 (GRCm39)	T243I	probably benign	Het
Myo1h	T	A	5: 114,500,208 (GRCm39)	I195K	probably damaging	Het
Nuak2	T	C	1: 132,260,105 (GRCm39)	S628P	probably benign	Het
Nup214	G	T	2: 31,892,944 (GRCm39)	A721S	possibly damaging	Het
Or12e13	A	G	2: 87,663,385 (GRCm39)	M1V	probably null	Het
Or5d47	A	G	2: 87,804,931 (GRCm39)	V26A	probably benign	Het
Pclo	T	C	5: 14,726,457 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,065,320 (GRCm39)	S12G	probably benign	Het
Pik3r5	T	C	11: 68,382,826 (GRCm39)	Y289H	probably damaging	Het
Pld1	T	C	3: 28,149,954 (GRCm39)	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,846,299 (GRCm39)	Y182H	probably damaging	Het
Ppid	A	G	3: 79,510,373 (GRCm39)	I354V	probably benign	Het
Prss2	T	C	6: 41,501,387 (GRCm39)	V152A	probably benign	Het
Rab28	C	T	5: 41,793,223 (GRCm39)	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,472,877 (GRCm39)		probably null	Het
Rabl6	T	G	2: 25,475,415 (GRCm39)	S553R	probably damaging	Het
Rars1	A	G	11: 35,717,374 (GRCm39)	F170S	possibly damaging	Het
Ror2	T	A	13: 53,267,116 (GRCm39)	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph4a	A	T	10: 33,785,139 (GRCm39)	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,450,869 (GRCm39)	F204L	probably damaging	Het
Sertad4	T	C	1: 192,533,257 (GRCm39)		probably null	Het
Shisa3	C	T	5: 67,768,486 (GRCm39)	P129S	probably benign	Het
Slc13a2	G	A	11: 78,295,534 (GRCm39)	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stab2	T	A	10: 86,743,025 (GRCm39)	R1195W	probably damaging	Het
Syna	C	A	5: 134,588,968 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,030 (GRCm39)	D759E	probably benign	Het
Thoc5	A	G	11: 4,869,753 (GRCm39)	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,601 (GRCm39)	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,090,599 (GRCm39)	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,029,671 (GRCm39)	N43S	possibly damaging	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,610,818 (GRCm39)	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,947,211 (GRCm39)	T514A	probably benign	Het
Wrn	A	T	8: 33,774,682 (GRCm39)	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,083,184 (GRCm39)	Y550F	probably benign	Het
Zfp995	G	A	17: 22,099,269 (GRCm39)	P322S	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
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
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'- ATCTTTGGGCCAGAACGAG -3'
(R):5'- TCCATTGCTGGCAAGAAATAAC -3'

Sequencing Primer
(F):5'- TGGTAATTCACAGCCATCGG -3'
(R):5'- GCTGGCAAGAAATAACTTGTAATG -3'

Posted On

2018-02-28