Mutagenetix > Incidental Mutation

Incidental Mutation 'R7294:Nr1h5'

566607

Institutional Source

Beutler Lab

Gene Symbol

Nr1h5

Ensembl Gene

ENSMUSG00000048938

Gene Name

nuclear receptor subfamily 1, group H, member 5

Synonyms

FXRB

MMRRC Submission

045399-MU

Accession Numbers

Essential gene?

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

Stock #

R7294 (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 102852578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 419 (T419A)

Ref Sequence

ENSEMBL: ENSMUSP00000052557 (fasta)

Gene Model

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

AlphaFold

E9Q5A6

Predicted Effect

probably benign
Transcript: ENSMUST00000058899
AA Change: T419A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: T419A

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

probably benign
Transcript: ENSMUST00000196135
AA Change: T361A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: T361A

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: T411A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: T411A

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

SMART Domains

Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938

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

SMART Domains

Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (49/52)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,650,541 (GRCm39)	Y1216*	probably null	Het
Abca17	G	A	17: 24,539,983 (GRCm39)	T415M	not run	Het
Adam1a	G	T	5: 121,658,068 (GRCm39)	C408*	probably null	Het
Adamts9	G	A	6: 92,871,270 (GRCm39)	T603M	probably damaging	Het
Amdhd1	T	C	10: 93,370,301 (GRCm39)	E179G	probably benign	Het
Bcan	T	C	3: 87,902,831 (GRCm39)	T316A	possibly damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C5ar1	T	C	7: 15,982,950 (GRCm39)	I23M	probably benign	Het
Cd109	A	T	9: 78,619,917 (GRCm39)	E1386D	probably damaging	Het
Cdcp1	C	T	9: 123,006,986 (GRCm39)	C587Y	probably benign	Het
Cdh22	A	C	2: 164,984,013 (GRCm39)	V413G	possibly damaging	Het
Cfap44	A	G	16: 44,225,256 (GRCm39)		probably benign	Het
Col2a1	A	G	15: 97,885,168 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,756,005 (GRCm39)	Y95N	probably damaging	Het
Dusp13b	A	G	14: 21,783,782 (GRCm39)	S178P	possibly damaging	Het
Fhod3	A	G	18: 25,266,037 (GRCm39)	E1575G	probably damaging	Het
Gfpt2	C	T	11: 49,709,435 (GRCm39)	R209*	probably null	Het
Heg1	T	C	16: 33,546,859 (GRCm39)	S573P	probably damaging	Het
Hinfp	A	G	9: 44,210,567 (GRCm39)	C152R	probably damaging	Het
Hmgcs2	C	T	3: 98,198,211 (GRCm39)	T38I	probably benign	Het
Jakmip1	T	C	5: 37,274,804 (GRCm39)	F441L	possibly damaging	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kpna4	A	C	3: 68,999,956 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,022,848 (GRCm39)	I456F	possibly damaging	Het
Leprotl1	A	T	8: 34,606,006 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,835 (GRCm39)	T42S	possibly damaging	Het
Naa80	T	G	9: 107,460,182 (GRCm39)	F26V	possibly damaging	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or4c12	A	C	2: 89,774,068 (GRCm39)	Y130*	probably null	Het
Or52b3	T	A	7: 102,204,160 (GRCm39)	I223N	probably damaging	Het
Pax6	T	A	2: 105,515,246 (GRCm39)	C66*	probably null	Het
Pde10a	A	T	17: 8,975,853 (GRCm39)	N53Y	probably benign	Het
Pdgfra	A	G	5: 75,342,312 (GRCm39)	N711S	probably benign	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Slc26a1	G	T	5: 108,821,698 (GRCm39)	R80S	possibly damaging	Het
Slc2a4	T	C	11: 69,836,225 (GRCm39)	D262G	probably benign	Het
Specc1	T	A	11: 62,009,163 (GRCm39)	S226R	probably benign	Het
Srsf4	A	G	4: 131,627,772 (GRCm39)	S289G	unknown	Het
Stil	T	C	4: 114,864,480 (GRCm39)	V127A	probably benign	Het
Syne1	A	T	10: 5,047,483 (GRCm39)		probably null	Het
Tbc1d22a	T	A	15: 86,196,036 (GRCm39)	Y336N	possibly damaging	Het
Tbc1d8	C	T	1: 39,445,843 (GRCm39)	G116E	probably damaging	Het
Thrb	A	G	14: 17,826,963 (GRCm38)		probably benign	Het
Timd5	T	A	11: 46,426,439 (GRCm39)	I182K	probably benign	Het
Tln1	G	T	4: 43,534,399 (GRCm39)	H2253Q	probably benign	Het
Tmem131	A	C	1: 36,893,928 (GRCm39)	N158K	possibly damaging	Het
Toporsl	A	C	4: 52,611,903 (GRCm39)	T599P	probably benign	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Triobp	C	T	15: 78,858,176 (GRCm39)	A1259V	probably damaging	Het
Zfp40	A	G	17: 23,395,411 (GRCm39)	I392T	possibly 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
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
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'- CTGAAGGGCTCACAGGAAAC -3'
(R):5'- GTAGCCATCTTGAACCCCAC -3'

Sequencing Primer
(F):5'- GATAGCATGTCCTGAAGATCCTGAC -3'
(R):5'- TTACACTGTTTGAGAGAAGAAAAGAC -3'

Posted On

2019-06-26