Mutagenetix > Incidental Mutation

Incidental Mutation 'R8933:Nr6a1'

680411

Institutional Source

Beutler Lab

Gene Symbol

Nr6a1

Ensembl Gene

ENSMUSG00000063972

Gene Name

nuclear receptor subfamily 6, group A, member 1

Synonyms

1700113M01Rik, NCNF, Gcnf

MMRRC Submission

068709-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8933 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38613381-38816473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38650400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 77 (I77V)

Ref Sequence

ENSEMBL: ENSMUSP00000108498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076275] [ENSMUST00000112877] [ENSMUST00000142113] [ENSMUST00000142130] [ENSMUST00000168098]

AlphaFold

Q64249

Predicted Effect

probably damaging
Transcript: ENSMUST00000076275
AA Change: I77V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075624
Gene: ENSMUSG00000063972
AA Change: I77V

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
ZnF_C4	72	143	9.35e-36	SMART
low complexity region	202	216	N/A	INTRINSIC
HOLI	304	466	3.19e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112877
AA Change: I77V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108498
Gene: ENSMUSG00000063972
AA Change: I77V

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
ZnF_C4	72	143	9.35e-36	SMART
low complexity region	202	216	N/A	INTRINSIC
HOLI	304	466	3.19e-29	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142113
AA Change: I20V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121234
Gene: ENSMUSG00000063972
AA Change: I20V

Domain	Start	End	E-Value	Type
ZnF_C4	15	86	9.35e-36	SMART
Blast:HOLI	105	235	6e-67	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142130
AA Change: I62V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115164
Gene: ENSMUSG00000063972
AA Change: I62V

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
ZnF_C4	57	128	9.35e-36	SMART
low complexity region	187	201	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168098
AA Change: I20V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126009
Gene: ENSMUSG00000063972
AA Change: I20V

Domain	Start	End	E-Value	Type
ZnF_C4	15	86	9.35e-36	SMART
low complexity region	145	159	N/A	INTRINSIC
HOLI	247	409	3.19e-29	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for targeted null mutations have cardiovascular abnormalities, defective trunk development, impaired somite formation, failure to turn, open neural tube and hindgut, protrusion of the tailbud outside the yolk sac and die by embryonic day 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,786 (GRCm39)	I1114N	probably damaging	Het
Ache	C	A	5: 137,288,449 (GRCm39)	R52S	possibly damaging	Het
AI182371	A	T	2: 34,975,714 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,406,325 (GRCm39)	S1453G	probably damaging	Het
Arvcf	A	G	16: 18,218,845 (GRCm39)	N508S	probably damaging	Het
Aurkc	A	C	7: 7,005,796 (GRCm39)	D136A	possibly damaging	Het
Bfsp2	A	G	9: 103,325,848 (GRCm39)	M265T	probably benign	Het
Bmpr1b	T	C	3: 141,562,369 (GRCm39)	T273A	probably damaging	Het
Cacnb1	T	C	11: 97,896,578 (GRCm39)	K406R	probably damaging	Het
Calcoco2	C	T	11: 95,998,252 (GRCm39)		probably benign	Het
Capza1	T	C	3: 104,748,209 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,251,265 (GRCm39)	I382F	probably damaging	Het
Cep350	A	T	1: 155,739,161 (GRCm39)	N2227K	probably benign	Het
Chia1	T	A	3: 106,036,333 (GRCm39)	Y304*	probably null	Het
Col5a2	G	A	1: 45,461,123 (GRCm39)	P258L		Het
Cyp21a1	A	G	17: 35,023,285 (GRCm39)	L30P	probably damaging	Het
Dennd4b	T	A	3: 90,186,523 (GRCm39)	H1351Q	probably benign	Het
Dnah9	T	A	11: 65,746,078 (GRCm39)	I4012F	possibly damaging	Het
Drd1	A	G	13: 54,207,290 (GRCm39)	I301T	possibly damaging	Het
Dzip1	T	A	14: 119,144,326 (GRCm39)	H369L	probably damaging	Het
Fgfrl1	T	A	5: 108,851,257 (GRCm39)	M58K	probably damaging	Het
Ftsj3	G	T	11: 106,141,660 (GRCm39)	D529E	probably benign	Het
Fut9	A	T	4: 25,619,861 (GRCm39)	W318R	probably damaging	Het
Gabrg3	A	G	7: 56,634,706 (GRCm39)	I159T	probably damaging	Het
Gabrr1	A	T	4: 33,146,972 (GRCm39)	D53V	probably benign	Het
Ggps1	A	G	13: 14,228,928 (GRCm39)	V85A	probably benign	Het
Gm5141	C	T	13: 62,924,854 (GRCm39)	W18*	probably null	Het
Grik5	T	A	7: 24,722,743 (GRCm39)	T518S	probably benign	Het
Hapln3	A	T	7: 78,767,378 (GRCm39)		probably benign	Het
Hbs1l	C	T	10: 21,243,584 (GRCm39)	Q646*	probably null	Het
Hmox1	T	C	8: 75,823,644 (GRCm39)	I104T	probably benign	Het
Ifit1bl1	T	C	19: 34,571,413 (GRCm39)	Y348C	probably damaging	Het
Igf2r	A	T	17: 12,920,131 (GRCm39)	S1403T	probably damaging	Het
Igf2r	G	A	17: 12,923,524 (GRCm39)	T1186M	probably damaging	Het
Igfbp1	T	C	11: 7,148,333 (GRCm39)		probably null	Het
Ikbip	C	A	10: 90,919,092 (GRCm39)	A35E	probably benign	Het
Isca1	C	T	13: 59,917,497 (GRCm39)	A8T	probably damaging	Het
Itgb2	T	C	10: 77,401,022 (GRCm39)	L754P	probably damaging	Het
Itgb6	C	T	2: 60,458,247 (GRCm39)	C502Y	probably damaging	Het
Kdm3a	A	G	6: 71,577,092 (GRCm39)	V741A	probably benign	Het
Kdsr	T	C	1: 106,680,949 (GRCm39)	D83G	possibly damaging	Het
Kiz	T	A	2: 146,784,037 (GRCm39)	N523K		Het
Kmt2a	T	C	9: 44,733,802 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,064 (GRCm39)	E191G	probably benign	Het
Lipn	A	G	19: 34,046,880 (GRCm39)	I61V	probably damaging	Het
Lmbr1l	T	A	15: 98,807,150 (GRCm39)		probably null	Het
Lrrc4c	A	G	2: 97,459,826 (GRCm39)	K151E	probably benign	Het
Mab21l3	T	C	3: 101,730,774 (GRCm39)	Q155R	probably benign	Het
Mtfr2	G	A	10: 20,233,274 (GRCm39)	R281H	possibly damaging	Het
Muc5ac	A	G	7: 141,343,493 (GRCm39)	Y35C	possibly damaging	Het
Myadm	C	T	7: 3,345,433 (GRCm39)	T65I	probably benign	Het
Nap1l1	T	C	10: 111,328,710 (GRCm39)	V213A	probably benign	Het
Nav2	A	G	7: 49,111,705 (GRCm39)	D737G	probably damaging	Het
Ndst4	T	A	3: 125,405,155 (GRCm39)	V470D	probably damaging	Het
Nek5	T	A	8: 22,601,226 (GRCm39)	Y165F	probably damaging	Het
Nek5	A	T	8: 22,610,859 (GRCm39)	V48E	probably damaging	Het
Nvl	A	T	1: 180,966,638 (GRCm39)	D93E	probably benign	Het
Or11a4	C	A	17: 37,536,346 (GRCm39)	T110K	possibly damaging	Het
Or2q1	A	G	6: 42,794,950 (GRCm39)	T182A	probably benign	Het
Or52e5	A	G	7: 104,718,599 (GRCm39)		probably benign	Het
Or52k2	A	T	7: 102,253,637 (GRCm39)	L25F	probably damaging	Het
Or52p1	A	T	7: 104,266,873 (GRCm39)	T4S	probably benign	Het
Or6c68	A	T	10: 129,158,259 (GRCm39)	I256F	probably damaging	Het
Pla2g4c	G	A	7: 13,073,627 (GRCm39)	V225I	probably benign	Het
Plppr4	T	A	3: 117,116,690 (GRCm39)	N331I	probably damaging	Het
Ptpn13	A	G	5: 103,727,671 (GRCm39)	R2051G	probably benign	Het
Rbm45	T	C	2: 76,209,068 (GRCm39)	S346P	probably damaging	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Slc15a1	C	T	14: 121,724,091 (GRCm39)	G172R	probably benign	Het
Slco3a1	G	T	7: 73,934,248 (GRCm39)	Y641*	probably null	Het
Srcap	G	A	7: 127,151,566 (GRCm39)	R2027H	probably damaging	Het
Stra8	A	T	6: 34,904,624 (GRCm39)		probably benign	Het
Syt11	T	C	3: 88,655,011 (GRCm39)	Y430C	probably damaging	Het
Tanc1	T	G	2: 59,615,800 (GRCm39)	V269G	possibly damaging	Het
Tead1	A	G	7: 112,497,818 (GRCm39)	N342S	probably benign	Het
Tenm3	C	T	8: 48,732,095 (GRCm39)	A1254T	possibly damaging	Het
Txlnb	A	T	10: 17,682,546 (GRCm39)	N156I	probably damaging	Het
Ufl1	A	T	4: 25,262,258 (GRCm39)	S409R	possibly damaging	Het
Usp17la	A	G	7: 104,510,307 (GRCm39)	H304R	probably benign	Het
Vmn1r203	T	A	13: 22,708,691 (GRCm39)	H157Q	possibly damaging	Het
Vmn1r37	C	T	6: 66,709,231 (GRCm39)	R249*	probably null	Het
Vmn2r96	A	G	17: 18,804,241 (GRCm39)	Q497R	probably benign	Het
Vps39	A	G	2: 120,169,066 (GRCm39)	S292P	probably benign	Het
Wnk1	A	G	6: 120,013,959 (GRCm39)	V212A	probably damaging	Het
Xbp1	T	C	11: 5,474,741 (GRCm39)	V161A	probably benign	Het
Zfp113	T	C	5: 138,143,092 (GRCm39)	Q386R	probably damaging	Het

Other mutations in Nr6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01566:Nr6a1	APN	2	38,617,901 (GRCm39)	missense	probably benign	0.06
IGL02245:Nr6a1	APN	2	38,630,565 (GRCm39)	missense	probably benign	0.04
IGL03195:Nr6a1	APN	2	38,632,948 (GRCm39)	missense	probably damaging	1.00
R0270:Nr6a1	UTSW	2	38,629,032 (GRCm39)	missense	possibly damaging	0.75
R0909:Nr6a1	UTSW	2	38,775,218 (GRCm39)	missense	probably benign	0.11
R1737:Nr6a1	UTSW	2	38,628,955 (GRCm39)	missense	probably benign	0.04
R5918:Nr6a1	UTSW	2	38,629,103 (GRCm39)	missense	probably damaging	1.00
R6210:Nr6a1	UTSW	2	38,619,509 (GRCm39)	missense	probably damaging	0.99
R6311:Nr6a1	UTSW	2	38,629,083 (GRCm39)	missense	possibly damaging	0.69
R6861:Nr6a1	UTSW	2	38,630,597 (GRCm39)	missense	possibly damaging	0.71
R6978:Nr6a1	UTSW	2	38,762,631 (GRCm39)	missense	probably benign
R7566:Nr6a1	UTSW	2	38,621,085 (GRCm39)	missense	possibly damaging	0.77
R8177:Nr6a1	UTSW	2	38,619,510 (GRCm39)	missense	probably benign	0.02
R8441:Nr6a1	UTSW	2	38,632,888 (GRCm39)	missense	probably benign	0.05
R8548:Nr6a1	UTSW	2	38,619,551 (GRCm39)	missense	probably damaging	1.00
R8548:Nr6a1	UTSW	2	38,619,550 (GRCm39)	missense	probably damaging	1.00
R8776:Nr6a1	UTSW	2	38,650,244 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Nr6a1	UTSW	2	38,650,244 (GRCm39)	missense	probably damaging	1.00
R8982:Nr6a1	UTSW	2	38,762,613 (GRCm39)	missense	probably benign	0.00
R9189:Nr6a1	UTSW	2	38,816,129 (GRCm39)	critical splice donor site	probably null
R9284:Nr6a1	UTSW	2	38,638,890 (GRCm39)	missense	probably damaging	1.00
R9505:Nr6a1	UTSW	2	38,630,485 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- CATCTGGAGACACTTGAGCAGG -3'
(R):5'- GCATGGAGTTACAAAAGCAACTC -3'

Sequencing Primer
(F):5'- GCGGCAGTACTGACATCTGTTC -3'
(R):5'- ACTCTTTCCCAAAGGCTAATGG -3'

Posted On

2021-08-31