Mutagenetix > Incidental Mutation

Incidental Mutation 'R1977:Nr1h5'

221813

Institutional Source

Beutler Lab

Gene Symbol

Nr1h5

Ensembl Gene

ENSMUSG00000048938

Gene Name

nuclear receptor subfamily 1, group H, member 5

Synonyms

FXRB

MMRRC Submission

039990-MU

Accession Numbers

Essential gene?

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

Stock #

R1977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102846974-102871449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102855133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 323 (S323P)

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: S323P

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

SMART Domains

Protein: ENSMUSP00000052557
Gene: ENSMUSG00000048938
AA Change: S323P

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: S265P

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

SMART Domains

Protein: ENSMUSP00000143445
Gene: ENSMUSG00000048938
AA Change: S265P

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: S323P

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

SMART Domains

Protein: ENSMUSP00000142799
Gene: ENSMUSG00000048938
AA Change: S323P

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: S323P

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

SMART Domains

Protein: ENSMUSP00000143764
Gene: ENSMUSG00000048938
AA Change: S323P

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: S323P

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

SMART Domains

Protein: ENSMUSP00000142345
Gene: ENSMUSG00000048938
AA Change: S323P

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (66/67)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 123,508,272 (GRCm39)	C256F	probably damaging	Het
Adgra2	T	A	8: 27,605,789 (GRCm39)	V647D	possibly damaging	Het
AI593442	A	T	9: 52,589,492 (GRCm39)	S28R	probably damaging	Het
Akr1c21	G	C	13: 4,624,211 (GRCm39)	G22R	probably damaging	Het
Ampd3	T	C	7: 110,402,369 (GRCm39)	W458R	probably damaging	Het
Arhgap23	G	T	11: 97,342,273 (GRCm39)	R185L	possibly damaging	Het
Arhgap45	A	T	10: 79,856,652 (GRCm39)	I67F	probably damaging	Het
Asah1	A	G	8: 41,796,554 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,160,019 (GRCm39)	Y56H	probably damaging	Het
Carf	A	T	1: 60,185,295 (GRCm39)	I447F	probably damaging	Het
Crmp1	A	G	5: 37,433,627 (GRCm39)	N162S	probably damaging	Het
Cyp2a5	A	G	7: 26,535,347 (GRCm39)	E103G	probably benign	Het
Cyp2c40	T	C	19: 39,766,485 (GRCm39)	D370G	probably damaging	Het
Dhrs2	T	A	14: 55,472,112 (GRCm39)	M1K	probably null	Het
Dnah17	T	C	11: 118,003,417 (GRCm39)	E810G	possibly damaging	Het
E2f5	T	A	3: 14,652,416 (GRCm39)	I84N	probably damaging	Het
Eif2ak4	A	T	2: 118,292,238 (GRCm39)	K1185*	probably null	Het
Eif4ebp1	T	A	8: 27,765,129 (GRCm39)	M115K	probably damaging	Het
Evi5	A	T	5: 107,947,005 (GRCm39)	L505*	probably null	Het
Fbxw25	T	A	9: 109,481,924 (GRCm39)	Y254F	possibly damaging	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gps1	A	G	11: 120,676,652 (GRCm39)	T124A	probably damaging	Het
Hopx	T	C	5: 77,265,463 (GRCm39)		probably benign	Het
Hoxd3	A	G	2: 74,574,620 (GRCm39)	S89G	possibly damaging	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Izumo4	A	G	10: 80,538,955 (GRCm39)	Y106C	probably damaging	Het
Lama2	A	T	10: 26,866,796 (GRCm39)		probably null	Het
Lcorl	A	C	5: 45,932,762 (GRCm39)	S123R	probably null	Het
Lgr4	A	T	2: 109,842,273 (GRCm39)	I729F	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Matn3	T	A	12: 9,011,110 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,161,822 (GRCm39)	S912T	probably benign	Het
Mgam	G	A	6: 40,641,814 (GRCm39)	V556I	probably benign	Het
Myom2	A	T	8: 15,135,263 (GRCm39)	I489F	possibly damaging	Het
Nfatc2	G	A	2: 168,346,379 (GRCm39)	T905I	possibly damaging	Het
Nme6	G	A	9: 109,664,409 (GRCm39)	R6Q	probably damaging	Het
Nr4a3	C	A	4: 48,056,539 (GRCm39)	R364S	probably damaging	Het
Obox7	A	T	7: 14,398,323 (GRCm39)	D79V	probably damaging	Het
Or1ab2	G	A	8: 72,863,698 (GRCm39)	G96D	probably benign	Het
Or2a51	T	A	6: 43,178,914 (GRCm39)	V112D	possibly damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Parp8	T	A	13: 117,047,449 (GRCm39)	I208F	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Polk	T	C	13: 96,625,736 (GRCm39)	E436G	probably damaging	Het
Pramel7	A	G	2: 87,321,465 (GRCm39)	V190A	probably benign	Het
Rplp2	T	C	7: 141,028,694 (GRCm39)		probably benign	Het
Sec23ip	T	A	7: 128,367,997 (GRCm39)	S670T	probably damaging	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sh2d2a	C	T	3: 87,759,123 (GRCm39)	Q242*	probably null	Het
Sh3pxd2b	A	C	11: 32,372,138 (GRCm39)	N435T	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Stx17	G	A	4: 48,181,553 (GRCm39)	V241M	probably benign	Het
Taok3	A	T	5: 117,403,989 (GRCm39)	K721N	probably damaging	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Tmem87a	G	A	2: 120,204,985 (GRCm39)	A377V	probably benign	Het
Topaz1	C	T	9: 122,576,427 (GRCm39)	T6M	unknown	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Vmn2r125	A	G	4: 156,707,162 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Wdr59	A	T	8: 112,185,270 (GRCm39)	C888S	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
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
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'- GAGACATTTGTTCCTACACTAACTG -3'
(R):5'- CTATTGTTATTCCCCAGAAGCAC -3'

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

Posted On

2014-08-25