Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01774:Rag2'

154031

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rag2

Ensembl Gene

ENSMUSG00000032864

Gene Name

recombination activating gene 2

Synonyms

Rag-2

Accession Numbers

MGI:97849

Is this an essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

101624718-101632529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101630047 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 234 (Y234C)

Ref Sequence

ENSEMBL: ENSMUSP00000106858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044031] [ENSMUST00000099682] [ENSMUST00000111227] [ENSMUST00000111231] [ENSMUST00000128898] [ENSMUST00000160037] [ENSMUST00000160722]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044031
AA Change: Y234C

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

SMART Domains

Protein: ENSMUSP00000038204
Gene: ENSMUSG00000032864
AA Change: Y234C

Domain	Start	End	E-Value	Type
Pfam:RAG2	51	389	3.5e-179	PFAM
Pfam:RAG2_PHD	414	491	7.2e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099682

Predicted Effect

probably damaging
Transcript: ENSMUST00000111227
AA Change: Y234C

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

SMART Domains

Protein: ENSMUSP00000106858
Gene: ENSMUSG00000032864
AA Change: Y234C

Domain	Start	End	E-Value	Type
Pfam:RAG2	51	389	6.7e-193	PFAM
Pfam:RAG2_PHD	414	491	1.1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111231

Predicted Effect

probably benign
Transcript: ENSMUST00000128898

Predicted Effect

probably benign
Transcript: ENSMUST00000160037

Predicted Effect

probably benign
Transcript: ENSMUST00000160722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177171

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination. [provided by MGI curators]

Allele List at MGI

All alleles(14) : Targeted(14)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,477,835	D708G	probably damaging	Het
Abca16	T	C	7: 120,421,801		probably benign	Het
Abcc5	T	C	16: 20,378,457	D674G	probably damaging	Het
Abr	A	G	11: 76,464,299		probably benign	Het
Arfgef3	A	G	10: 18,743,615	I4T	possibly damaging	Het
Btla	A	G	16: 45,250,548	N290S	possibly damaging	Het
Catip	C	A	1: 74,368,483	R325S	probably damaging	Het
Cep120	A	G	18: 53,706,830	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,115,307	I221V	probably benign	Het
Eloc	A	T	1: 16,645,789	D37E	probably benign	Het
Fabp12	A	C	3: 10,247,694	N89K	probably benign	Het
Ficd	G	T	5: 113,739,012	R416L	probably damaging	Het
Frmd3	T	C	4: 74,187,838	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,535,236		probably benign	Het
Gatc	G	A	5: 115,341,017	Q45*	probably null	Het
Gm5414	T	C	15: 101,626,975	D225G	probably benign	Het
Itpkc	G	T	7: 27,212,370	A592E	probably benign	Het
Kl	G	T	5: 150,988,483	V566L	probably benign	Het
Lpin1	T	A	12: 16,558,476	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,385,885	Y483C	probably damaging	Het
Neb	C	T	2: 52,222,970	W67*	probably null	Het
Nrarp	T	C	2: 25,181,286	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr659	T	C	7: 104,670,942	I80T	probably benign	Het
Pacs2	T	A	12: 113,056,842	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,277	K420R	probably benign	Het
Ralgds	C	T	2: 28,550,542	Q88*	probably null	Het
Rictor	T	C	15: 6,769,777	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,925,613	Q276*	probably null	Het
Tas2r134	C	T	2: 51,628,148	T213I	probably benign	Het
Tecpr1	A	G	5: 144,211,540	I349T	probably damaging	Het
Tnxb	T	C	17: 34,688,839	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,375,050	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,583,627	I229L	probably benign	Het
Vnn1	T	C	10: 23,900,710	Y320H	probably benign	Het
Zfp990	T	C	4: 145,536,948	V172A	probably benign	Het

Other mutations in Rag2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Rag2	APN	2	101630617	missense	probably benign	0.00
IGL01358:Rag2	APN	2	101630020	missense	possibly damaging	0.95
IGL02267:Rag2	APN	2	101630031	missense	probably damaging	1.00
IGL02507:Rag2	APN	2	101630710	missense	probably damaging	0.99
IGL02615:Rag2	APN	2	101629568	nonsense	probably null
IGL02690:Rag2	APN	2	101629494	missense	probably benign	0.00
IGL03087:Rag2	APN	2	101630214	missense	probably benign	0.00
IGL03261:Rag2	APN	2	101630263	missense	probably damaging	0.96
billfold	UTSW	2	101630773	missense	probably damaging	1.00
excambiar	UTSW	2	101630776	missense	probably damaging	0.99
snowcock	UTSW	2	101630603	missense	probably damaging	1.00
woodcock	UTSW	2	101630119	missense	probably damaging	0.98
R0266:Rag2	UTSW	2	101630603	missense	probably damaging	1.00
R0284:Rag2	UTSW	2	101630119	missense	probably damaging	0.98
R1250:Rag2	UTSW	2	101630439	missense	probably damaging	0.96
R1520:Rag2	UTSW	2	101630131	missense	probably damaging	0.99
R1641:Rag2	UTSW	2	101629615	missense	probably benign	0.22
R2260:Rag2	UTSW	2	101630238	missense	probably benign	0.00
R2571:Rag2	UTSW	2	101629967	missense	probably damaging	0.99
R3441:Rag2	UTSW	2	101630300	missense	probably damaging	0.99
R3752:Rag2	UTSW	2	101630776	missense	probably damaging	0.99
R4894:Rag2	UTSW	2	101629677	missense	probably damaging	1.00
R5197:Rag2	UTSW	2	101630740	missense	probably damaging	1.00
R5236:Rag2	UTSW	2	101629660	missense	probably damaging	1.00
R6815:Rag2	UTSW	2	101630555	missense	probably damaging	0.99
R7365:Rag2	UTSW	2	101630773	missense	probably damaging	1.00
R7917:Rag2	UTSW	2	101629695	missense	probably damaging	1.00
X0027:Rag2	UTSW	2	101630373	missense	probably damaging	1.00
Z31818:Rag2	UTSW	2	101630805	missense	probably damaging	1.00

Posted On

2014-02-04