Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Nr1h5'

663133

Institutional Source

Beutler Lab

Gene Symbol

Nr1h5

Ensembl Gene

ENSMUSG00000048938

Gene Name

nuclear receptor subfamily 1, group H, member 5

Synonyms

FXRB

MMRRC Submission

068585-MU

Accession Numbers

Essential gene?

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

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102846974-102871449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102862015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 85 (S85P)

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: S85P

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

SMART Domains

Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: S85P

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: S85P

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

SMART Domains

Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: S85P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196983
AA Change: S85P

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: S85P

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: S85P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: S85P

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

possibly damaging
Transcript: ENSMUST00000198472
AA Change: S85P

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: S85P

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,196,214 (GRCm39)	T283M	probably damaging	Het
Abca9	A	G	11: 110,056,817 (GRCm39)	M1T	probably null	Het
Ackr1	T	C	1: 173,159,952 (GRCm39)	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,304,264 (GRCm39)	D303G	probably benign	Het
Arfgef2	A	T	2: 166,708,867 (GRCm39)	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,238,414 (GRCm39)	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,306,674 (GRCm39)	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,007,584 (GRCm39)	D495V	probably benign	Het
Brpf3	T	A	17: 29,040,214 (GRCm39)	D878E	probably benign	Het
C3	A	G	17: 57,511,015 (GRCm39)	*1664R	probably null	Het
Cap2	A	G	13: 46,684,548 (GRCm39)	T73A	probably benign	Het
Ccr6	A	T	17: 8,475,394 (GRCm39)	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,274,221 (GRCm39)	G1021R	probably benign	Het
Cidea	C	A	18: 67,499,485 (GRCm39)	S124*	probably null	Het
Cnst	C	A	1: 179,420,274 (GRCm39)	T135K	probably benign	Het
Crebbp	A	T	16: 3,936,952 (GRCm39)	M805K	probably benign	Het
Crybb1	A	G	5: 112,411,439 (GRCm39)	Y119C	probably damaging	Het
Cux1	G	T	5: 136,402,220 (GRCm39)	T121K	probably damaging	Het
Dnah11	A	T	12: 118,049,384 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,900,677 (GRCm39)	T48A	probably damaging	Het
Dysf	G	A	6: 84,171,353 (GRCm39)	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,258,096 (GRCm39)	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429 (GRCm39)	R170S	probably damaging	Het
Gm16686	A	T	4: 88,673,775 (GRCm39)	M18K	unknown	Het
Gm36864	C	T	7: 43,886,304 (GRCm39)	Q179*	probably null	Het
Golgb1	A	G	16: 36,736,675 (GRCm39)	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,324,374 (GRCm39)	L30P	probably damaging	Het
Herc2	A	G	7: 55,798,402 (GRCm39)	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,372,132 (GRCm39)	D37E	probably damaging	Het
Igha	A	G	12: 113,223,144 (GRCm39)	V161A	probably damaging	Het
Isl2	T	G	9: 55,452,722 (GRCm39)	S327A	probably benign	Het
Itk	A	G	11: 46,231,539 (GRCm39)	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,780,648 (GRCm39)	S507P	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,171,034 (GRCm39)	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,243,261 (GRCm39)	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,162,257 (GRCm39)	E159*	probably null	Het
Map3k13	A	G	16: 21,745,008 (GRCm39)	T856A	probably damaging	Het
Mcm8	A	G	2: 132,665,141 (GRCm39)	T206A	probably benign	Het
Megf6	A	G	4: 154,352,436 (GRCm39)	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,202,648 (GRCm39)	Y26H	probably benign	Het
Mug1	T	C	6: 121,817,208 (GRCm39)		probably benign	Het
Mysm1	C	T	4: 94,856,196 (GRCm39)	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,440,216 (GRCm39)	I598L	probably benign	Het
Npas2	A	T	1: 39,331,797 (GRCm39)	I71F	possibly damaging	Het
Nrcam	T	A	12: 44,619,075 (GRCm39)	V868D	possibly damaging	Het
Oas1a	A	G	5: 121,040,019 (GRCm39)	F191L	probably damaging	Het
Or14j8	A	T	17: 38,263,673 (GRCm39)	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778 (GRCm39)	L125H	possibly damaging	Het
Osbpl7	A	G	11: 96,946,903 (GRCm39)	E402G	possibly damaging	Het
Otof	G	A	5: 30,545,968 (GRCm39)	Q462*	probably null	Het
Phlda2	A	C	7: 143,055,959 (GRCm39)	I90S	probably damaging	Het
Plin3	C	T	17: 56,593,490 (GRCm39)	V75I	probably benign	Het
Pms1	A	T	1: 53,321,195 (GRCm39)	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,236,732 (GRCm39)	K504E	probably damaging	Het
Rflna	A	T	5: 125,087,541 (GRCm39)	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,414,805 (GRCm39)	M193L	probably benign	Het
Sema3e	A	T	5: 14,214,169 (GRCm39)	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,271,500 (GRCm39)	N90K	probably damaging	Het
Sfswap	A	G	5: 129,620,345 (GRCm39)	D538G	possibly damaging	Het
Snx14	A	T	9: 88,289,453 (GRCm39)	D266E	possibly damaging	Het
Stat4	C	T	1: 52,115,711 (GRCm39)	T217M	possibly damaging	Het
Taf13	T	C	3: 108,485,444 (GRCm39)	M40T	probably damaging	Het
Tenm4	A	G	7: 96,523,047 (GRCm39)	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 155,007,710 (GRCm39)	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,484,718 (GRCm39)	W60R	probably damaging	Het
Tph2	A	T	10: 115,015,614 (GRCm39)		probably benign	Het
Unc13b	A	T	4: 43,177,564 (GRCm39)	K2797N	unknown	Het
Upf1	C	G	8: 70,785,973 (GRCm39)	M995I	probably benign	Het
Upf1	G	A	8: 70,785,972 (GRCm39)	P996S	probably benign	Het
Vcan	C	T	13: 89,840,439 (GRCm39)	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,077,020 (GRCm39)	D382G	probably benign	Het
Xxylt1	C	T	16: 30,899,964 (GRCm39)	A64T	probably benign	Het
Zcchc8	A	G	5: 123,841,070 (GRCm39)	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,317,187 (GRCm39)	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,931,745 (GRCm39)		probably null	Het
Zfp691	A	G	4: 119,027,861 (GRCm39)	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,089,450 (GRCm39)	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,625,550 (GRCm39)	Q70P	probably benign	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
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
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'- ACCCCTCACAAGTAAGTGCATTG -3'
(R):5'- CTATTGTGCTGGACGGCAAG -3'

Sequencing Primer
(F):5'- CCCTCACAAGTAAGTGCATTGTAGTG -3'
(R):5'- TGCCAGAACAATTCCATTATCAGCTG -3'

Posted On

2021-03-08