Mutagenetix > Incidental Mutation

Incidental Mutation 'R7069:Rorc'

548733

Institutional Source

Beutler Lab

Gene Symbol

Rorc

Ensembl Gene

ENSMUSG00000028150

Gene Name

RAR-related orphan receptor gamma

Synonyms

Thor, RORgamma, thymus orphan receptor

MMRRC Submission

045165-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R7069 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94280101-94305583 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 94280214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 6 (Q6*)

Ref Sequence

ENSEMBL: ENSMUSP00000029795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029795] [ENSMUST00000197040] [ENSMUST00000200009]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000029795
AA Change: Q6*

SMART Domains

Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
AA Change: Q6*

Domain	Start	End	E-Value	Type
ZnF_C4	28	99	7.2e-37	SMART
low complexity region	116	133	N/A	INTRINSIC
HOLI	320	474	3.78e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197040

SMART Domains

Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150

Domain	Start	End	E-Value	Type
ZnF_C4	7	78	7.2e-37	SMART
low complexity region	95	112	N/A	INTRINSIC
HOLI	299	453	3.78e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200009

SMART Domains

Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150

Domain	Start	End	E-Value	Type
ZnF_C4	13	84	7.2e-37	SMART
low complexity region	101	118	N/A	INTRINSIC
PDB:3L0L\|B	243	309	1e-22	PDB

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lack of peripheral and mesenteric lymph nodes and Peyer's patches, reduced numbers of thymocytes, and increased apoptosis with loss of thymic expression of anti-apoptosic factor Bcl-xL. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,024,203 (GRCm39)	I991L	probably benign	Het
Abtb3	C	A	10: 85,223,520 (GRCm39)	R110S	unknown	Het
Actg2	C	A	6: 83,497,745 (GRCm39)	G96V	probably damaging	Het
Adh5	T	A	3: 138,156,812 (GRCm39)	L166*	probably null	Het
Akap13	A	G	7: 75,260,010 (GRCm39)	D75G	probably benign	Het
Ank2	T	C	3: 126,739,947 (GRCm39)		probably benign	Het
Arfgap1	T	A	2: 180,615,913 (GRCm39)	D197E	probably benign	Het
Aste1	T	C	9: 105,273,906 (GRCm39)		probably null	Het
Atp8b2	T	A	3: 89,861,878 (GRCm39)	N78I	probably damaging	Het
Cacna2d3	T	A	14: 28,691,260 (GRCm39)		probably benign	Het
Chrd	T	A	16: 20,558,183 (GRCm39)	W809R	probably damaging	Het
Col2a1	C	T	15: 97,896,469 (GRCm39)	G60D	unknown	Het
Coro7	T	A	16: 4,497,475 (GRCm39)	M1L	probably damaging	Het
Cracdl	A	T	1: 37,670,982 (GRCm39)	F97Y	probably damaging	Het
Dhx40	T	C	11: 86,688,569 (GRCm39)	I285V	probably benign	Het
Dop1a	T	C	9: 86,432,222 (GRCm39)		probably null	Het
Enox1	A	T	14: 77,848,764 (GRCm39)	R358S	probably damaging	Het
Ep400	A	G	5: 110,815,990 (GRCm39)	V2724A	probably damaging	Het
Fam221a	A	C	6: 49,355,432 (GRCm39)	Q178P	probably damaging	Het
Fcho1	A	C	8: 72,163,141 (GRCm39)		probably null	Het
Fndc1	A	T	17: 7,988,567 (GRCm39)	V1165D	unknown	Het
Gal3st2b	A	T	1: 93,868,341 (GRCm39)	N189Y	possibly damaging	Het
Ghr	T	A	15: 3,349,966 (GRCm39)	D404V	probably damaging	Het
Glis3	A	T	19: 28,508,919 (GRCm39)	V355D	probably damaging	Het
Gpr12	A	C	5: 146,520,349 (GRCm39)	V32G	possibly damaging	Het
Gspt1	T	A	16: 11,040,525 (GRCm39)	L593F	probably damaging	Het
H2-Q7	A	T	17: 35,659,007 (GRCm39)	T153S	probably damaging	Het
Hars2	A	G	18: 36,921,009 (GRCm39)	I194V	probably damaging	Het
Hdac9	T	A	12: 34,479,548 (GRCm39)	T202S	possibly damaging	Het
Hoxd13	T	C	2: 74,499,368 (GRCm39)	Y239H	probably damaging	Het
Insm2	C	T	12: 55,646,621 (GRCm39)	Q122*	probably null	Het
Insyn2b	T	A	11: 34,352,677 (GRCm39)	C240S	possibly damaging	Het
Ip6k1	T	A	9: 107,922,651 (GRCm39)		probably null	Het
Ippk	T	C	13: 49,615,219 (GRCm39)	V534A	probably damaging	Het
Itch	T	G	2: 155,051,914 (GRCm39)	F611C	probably damaging	Het
Itga1	A	T	13: 115,104,776 (GRCm39)	N1083K	probably damaging	Het
Itgae	A	C	11: 73,006,969 (GRCm39)	D405A	probably damaging	Het
Kif18a	T	C	2: 109,125,347 (GRCm39)	S255P	probably damaging	Het
Klhl24	C	G	16: 19,926,231 (GRCm39)	T253R	probably benign	Het
Krt81	T	A	15: 101,358,609 (GRCm39)	T307S	possibly damaging	Het
Lbr	A	T	1: 181,656,354 (GRCm39)	W265R	probably damaging	Het
Lgals3bp	T	C	11: 118,283,999 (GRCm39)	T527A	probably benign	Het
Lzts1	A	C	8: 69,593,397 (GRCm39)	V70G	probably damaging	Het
Map3k6	C	T	4: 132,979,023 (GRCm39)	P1154S	probably benign	Het
Masp1	T	C	16: 23,271,205 (GRCm39)	D681G	probably benign	Het
Mdga2	T	C	12: 66,533,526 (GRCm39)	N948D	probably benign	Het
Mettl4	A	T	17: 95,041,061 (GRCm39)	F364L	probably damaging	Het
Mosmo	T	C	7: 120,277,055 (GRCm39)	I23T	probably benign	Het
Mtg1	G	A	7: 139,723,657 (GRCm39)	V96I	probably benign	Het
Myh11	T	A	16: 14,036,803 (GRCm39)	R966S	possibly damaging	Het
Ncapg2	A	G	12: 116,388,337 (GRCm39)		probably null	Het
Nid1	G	A	13: 13,683,353 (GRCm39)	V1144I	probably benign	Het
Or4a77	T	C	2: 89,486,910 (GRCm39)	I292V	probably benign	Het
Or52a33	A	T	7: 103,289,167 (GRCm39)	M60K	probably damaging	Het
Or55b4	C	A	7: 102,133,979 (GRCm39)	C116F	possibly damaging	Het
Oscar	T	G	7: 3,614,238 (GRCm39)	Y167S	probably damaging	Het
Pa2g4	T	C	10: 128,396,559 (GRCm39)	T200A	probably benign	Het
Pcdh7	A	G	5: 57,877,126 (GRCm39)	D227G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plce1	G	A	19: 38,747,384 (GRCm39)	G1702R	probably damaging	Het
Plxna2	C	A	1: 194,476,212 (GRCm39)	T1144K	possibly damaging	Het
Prl8a8	G	A	13: 27,695,450 (GRCm39)	T99I	probably benign	Het
Prr29	C	A	11: 106,267,085 (GRCm39)	H83Q	probably damaging	Het
Raly	T	A	2: 154,701,664 (GRCm39)	I108N	possibly damaging	Het
Ranbp9	A	T	13: 43,573,098 (GRCm39)	S475R	probably benign	Het
Rogdi	C	A	16: 4,831,362 (GRCm39)		probably benign	Het
Sacs	T	C	14: 61,449,945 (GRCm39)	L3997S	probably damaging	Het
Scn2a	A	T	2: 65,594,950 (GRCm39)	Y1933F	probably benign	Het
Sik3	T	C	9: 46,122,041 (GRCm39)	L898P	probably damaging	Het
Sipa1l1	A	G	12: 82,388,180 (GRCm39)	I135M	probably damaging	Het
Slc26a3	C	A	12: 31,500,934 (GRCm39)	Q224K	probably damaging	Het
Sobp	G	T	10: 42,897,436 (GRCm39)	N716K	probably benign	Het
Spata16	A	G	3: 26,981,483 (GRCm39)	D513G	probably damaging	Het
Spata31h1	G	A	10: 82,125,777 (GRCm39)	T2411I	probably damaging	Het
Speer4a3	A	T	5: 26,154,842 (GRCm39)	S253T	possibly damaging	Het
Stac	T	C	9: 111,401,394 (GRCm39)	R351G	possibly damaging	Het
Tecta	T	A	9: 42,306,237 (GRCm39)	T64S	probably benign	Het
Tert	G	A	13: 73,776,529 (GRCm39)	V427M	probably damaging	Het
Tex15	G	A	8: 34,060,748 (GRCm39)	M333I	probably benign	Het
Tmbim4	A	T	10: 120,056,664 (GRCm39)	Q72L	probably benign	Het
Trav9n-4	T	C	14: 53,532,256 (GRCm39)	S37P	probably benign	Het
Trpv5	A	T	6: 41,652,894 (GRCm39)	M93K	possibly damaging	Het
Ulk4	T	C	9: 121,087,876 (GRCm39)	E272G	probably benign	Het
Ulk4	T	C	9: 121,095,583 (GRCm39)	T79A	probably benign	Het
Upb1	A	G	10: 75,248,602 (GRCm39)	N41D	probably benign	Het
Wls	A	T	3: 159,639,965 (GRCm39)	Y532F	probably damaging	Het
Zdhhc5	G	A	2: 84,545,355 (GRCm39)		probably benign	Het
Zfp109	T	C	7: 23,928,785 (GRCm39)	D216G	probably benign	Het
Zfp473	G	A	7: 44,381,798 (GRCm39)	A845V	probably damaging	Het

Other mutations in Rorc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Rorc	APN	3	94,296,094 (GRCm39)	missense	probably damaging	1.00
beto	UTSW	3	94,284,915 (GRCm39)	splice site	probably null
brazil	UTSW	3	94,296,826 (GRCm39)	missense	probably damaging	1.00
cashew	UTSW	3	94,298,460 (GRCm39)	missense	probably damaging	1.00
chestnut	UTSW	3	94,284,916 (GRCm39)	splice site	probably benign
macadamias	UTSW	3	94,304,609 (GRCm39)	nonsense	probably null
macadamias2	UTSW	3	94,294,500 (GRCm39)	missense	probably damaging	1.00
R0014:Rorc	UTSW	3	94,284,920 (GRCm39)	splice site	probably benign
R0115:Rorc	UTSW	3	94,284,916 (GRCm39)	splice site	probably benign
R0365:Rorc	UTSW	3	94,296,069 (GRCm39)	missense	probably damaging	1.00
R1470:Rorc	UTSW	3	94,304,609 (GRCm39)	nonsense	probably null
R1470:Rorc	UTSW	3	94,304,609 (GRCm39)	nonsense	probably null
R1914:Rorc	UTSW	3	94,298,480 (GRCm39)	missense	probably damaging	1.00
R1915:Rorc	UTSW	3	94,298,480 (GRCm39)	missense	probably damaging	1.00
R2142:Rorc	UTSW	3	94,296,833 (GRCm39)	missense	probably benign	0.04
R2510:Rorc	UTSW	3	94,296,427 (GRCm39)	missense	probably benign	0.30
R4135:Rorc	UTSW	3	94,296,826 (GRCm39)	missense	probably damaging	1.00
R4181:Rorc	UTSW	3	94,294,500 (GRCm39)	missense	probably damaging	1.00
R4574:Rorc	UTSW	3	94,296,291 (GRCm39)	missense	probably benign	0.00
R4701:Rorc	UTSW	3	94,299,017 (GRCm39)	missense	probably null	1.00
R5014:Rorc	UTSW	3	94,298,460 (GRCm39)	missense	probably damaging	1.00
R5233:Rorc	UTSW	3	94,304,632 (GRCm39)	missense	probably benign	0.26
R6758:Rorc	UTSW	3	94,294,825 (GRCm39)	missense	possibly damaging	0.90
R7162:Rorc	UTSW	3	94,284,915 (GRCm39)	splice site	probably null
R7169:Rorc	UTSW	3	94,296,487 (GRCm39)	missense	probably benign	0.00
R7730:Rorc	UTSW	3	94,300,421 (GRCm39)	missense	probably benign	0.43
R7922:Rorc	UTSW	3	94,298,495 (GRCm39)	missense	probably damaging	0.98
R8365:Rorc	UTSW	3	94,282,366 (GRCm39)	missense	probably benign	0.01
R9354:Rorc	UTSW	3	94,280,170 (GRCm39)	unclassified	probably benign
X0063:Rorc	UTSW	3	94,299,058 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTTCCTCAAGACTCCAGACACTG -3'
(R):5'- AAGACTCGGTCCTACCTCAC -3'

Sequencing Primer
(F):5'- AGACACTGGTCCACTGCTC -3'
(R):5'- GGTCCTACCTCACCGCTTTG -3'

Posted On

2019-05-13