Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Chn2'

6355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chn2

Ensembl Gene

ENSMUSG00000004633

Gene Name

chimerin 2

Synonyms

4930557O16Rik, 1700026N20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

54039554-54301810 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 54295922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046856] [ENSMUST00000067741] [ENSMUST00000114401] [ENSMUST00000114402] [ENSMUST00000146114] [ENSMUST00000203091] [ENSMUST00000203941] [ENSMUST00000204115] [ENSMUST00000204746] [ENSMUST00000204921]

AlphaFold

Q80XD1

Predicted Effect

probably null
Transcript: ENSMUST00000046856

SMART Domains

Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
SH2	57	136	7.23e-16	SMART
C1	215	264	1.88e-15	SMART
RhoGAP	288	465	2.73e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000067741

SMART Domains

Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
C1	79	128	1.88e-15	SMART
RhoGAP	152	329	2.73e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114401

SMART Domains

Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
C1	24	73	1.88e-15	SMART
RhoGAP	97	274	2.73e-73	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114402

SMART Domains

Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
C1	24	73	1.88e-15	SMART
RhoGAP	97	224	2.07e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145111

Predicted Effect

probably null
Transcript: ENSMUST00000146114

SMART Domains

Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
C1	29	78	1.88e-15	SMART
RhoGAP	102	279	2.73e-73	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203091

SMART Domains

Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
C1	79	128	9.1e-18	SMART
Pfam:RhoGAP	155	196	5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203941

SMART Domains

Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
RhoGAP	101	225	1.2e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204115

SMART Domains

Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
C1	79	128	9.1e-18	SMART
RhoGAP	101	257	3.7e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000204746

SMART Domains

Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
RhoGAP	101	271	4.7e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204921

SMART Domains

Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
C1	79	128	9.1e-18	SMART
RhoGAP	152	283	4.9e-37	SMART

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 guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired infrapyramidal tract neuron prunning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Chn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Chn2	APN	6	54300245	unclassified	probably benign
IGL02618:Chn2	APN	6	54220437	missense	probably damaging	1.00
IGL02807:Chn2	APN	6	54295913	missense	possibly damaging	0.80
IGL03357:Chn2	APN	6	54194077	missense	probably benign	0.02
R0002:Chn2	UTSW	6	54273113	missense	probably benign	0.08
R0123:Chn2	UTSW	6	54290451	splice site	probably benign
R0225:Chn2	UTSW	6	54290451	splice site	probably benign
R1478:Chn2	UTSW	6	54293080	missense	probably damaging	1.00
R1905:Chn2	UTSW	6	54286121	missense	probably damaging	1.00
R3769:Chn2	UTSW	6	54290411	missense	probably damaging	1.00
R3946:Chn2	UTSW	6	54269426	unclassified	probably benign
R4125:Chn2	UTSW	6	54272978	missense	probably damaging	1.00
R4127:Chn2	UTSW	6	54272978	missense	probably damaging	1.00
R4128:Chn2	UTSW	6	54272978	missense	probably damaging	1.00
R4614:Chn2	UTSW	6	54290403	missense	probably damaging	1.00
R4616:Chn2	UTSW	6	54290403	missense	probably damaging	1.00
R5063:Chn2	UTSW	6	54290287	nonsense	probably null
R5121:Chn2	UTSW	6	54218561	missense	possibly damaging	0.57
R5208:Chn2	UTSW	6	54295801	missense	probably damaging	0.97
R5240:Chn2	UTSW	6	54220695	missense	probably benign
R5348:Chn2	UTSW	6	54300218	missense	probably damaging	0.99
R5861:Chn2	UTSW	6	54290374	missense	probably damaging	1.00
R6539:Chn2	UTSW	6	54173461	splice site	probably null
R6824:Chn2	UTSW	6	54272953	missense	probably benign	0.00
R7194:Chn2	UTSW	6	54286177	splice site	probably null
R7740:Chn2	UTSW	6	54300171	missense	probably benign	0.18
R7765:Chn2	UTSW	6	54298152	critical splice donor site	probably null
R7997:Chn2	UTSW	6	54290285	missense	probably damaging	1.00
R8477:Chn2	UTSW	6	54269482	splice site	probably null
R8804:Chn2	UTSW	6	54273076	missense	probably benign	0.01
R9297:Chn2	UTSW	6	54295855	missense	probably damaging	1.00
R9318:Chn2	UTSW	6	54295855	missense	probably damaging	1.00

Posted On

2012-04-20