Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02807:Chn2'

360465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chn2

Ensembl Gene

ENSMUSG00000004633

Gene Name

chimerin 2

Synonyms

1700026N20Rik, 4930557O16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL02807

Quality Score

Status

Chromosome

Chromosomal Location

54016917-54278797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54272898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 183 (E183G)

Ref Sequence

ENSEMBL: ENSMUSP00000110043 (fasta)

Gene Model

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

AlphaFold

Q80XD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046856
AA Change: E374G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: E374G

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

possibly damaging
Transcript: ENSMUST00000067741
AA Change: E238G

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: E238G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114401
AA Change: E183G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: E183G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114402
AA Change: E183G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: E183G

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 benign
Transcript: ENSMUST00000146114
AA Change: E188G

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: E188G

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: ENSMUST00000204746
AA Change: E180G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
AA Change: E180G

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

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	C	A	13: 70,886,897 (GRCm39)		probably null	Het
Ankra2	T	C	13: 98,408,250 (GRCm39)	L73P	probably damaging	Het
Ankrd63	G	T	2: 118,533,789 (GRCm39)		probably benign	Het
Cars1	A	T	7: 143,123,209 (GRCm39)	I469N	possibly damaging	Het
Fstl4	A	T	11: 53,077,501 (GRCm39)	T753S	probably benign	Het
Igf2r	G	T	17: 12,938,770 (GRCm39)	N511K	probably damaging	Het
Il12rb2	A	T	6: 67,328,300 (GRCm39)	I310N	probably damaging	Het
Kcnc3	C	A	7: 44,245,381 (GRCm39)	P557Q	probably damaging	Het
Mrps36	A	G	13: 100,877,674 (GRCm39)		probably null	Het
Mug1	A	G	6: 121,863,531 (GRCm39)	T1410A	probably damaging	Het
Nme8	C	A	13: 19,860,001 (GRCm39)		probably benign	Het
Or1l4	A	C	2: 37,091,586 (GRCm39)	N111T	probably damaging	Het
Or4d11	A	G	19: 12,013,648 (GRCm39)	F153L	probably benign	Het
Or51v14	A	T	7: 103,261,198 (GRCm39)	S121T	probably benign	Het
Or8b36	C	T	9: 37,937,485 (GRCm39)	P128S	probably damaging	Het
Pcm1	A	G	8: 41,783,919 (GRCm39)	E2005G	probably damaging	Het
Phtf1	T	G	3: 103,904,869 (GRCm39)	S506A	probably benign	Het
Plpp5	G	T	8: 26,211,192 (GRCm39)		probably benign	Het
Rapgef4	G	T	2: 72,035,993 (GRCm39)		probably benign	Het
Syt15	G	A	14: 33,944,870 (GRCm39)	G139D	probably benign	Het
Trpm8	T	C	1: 88,275,830 (GRCm39)	L476P	probably damaging	Het
Virma	G	A	4: 11,507,079 (GRCm39)		probably benign	Het
Vmn1r170	T	A	7: 23,305,760 (GRCm39)	I54N	probably damaging	Het
Vmn2r98	G	A	17: 19,301,283 (GRCm39)	A762T	probably damaging	Het

Other mutations in Chn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Chn2	APN	6	54,272,907 (GRCm39)	critical splice donor site	probably null
IGL02158:Chn2	APN	6	54,277,230 (GRCm39)	unclassified	probably benign
IGL02618:Chn2	APN	6	54,197,422 (GRCm39)	missense	probably damaging	1.00
IGL03357:Chn2	APN	6	54,171,062 (GRCm39)	missense	probably benign	0.02
R0002:Chn2	UTSW	6	54,250,098 (GRCm39)	missense	probably benign	0.08
R0123:Chn2	UTSW	6	54,267,436 (GRCm39)	splice site	probably benign
R0225:Chn2	UTSW	6	54,267,436 (GRCm39)	splice site	probably benign
R1478:Chn2	UTSW	6	54,270,065 (GRCm39)	missense	probably damaging	1.00
R1905:Chn2	UTSW	6	54,263,106 (GRCm39)	missense	probably damaging	1.00
R3769:Chn2	UTSW	6	54,267,396 (GRCm39)	missense	probably damaging	1.00
R3946:Chn2	UTSW	6	54,246,411 (GRCm39)	unclassified	probably benign
R4125:Chn2	UTSW	6	54,249,963 (GRCm39)	missense	probably damaging	1.00
R4127:Chn2	UTSW	6	54,249,963 (GRCm39)	missense	probably damaging	1.00
R4128:Chn2	UTSW	6	54,249,963 (GRCm39)	missense	probably damaging	1.00
R4614:Chn2	UTSW	6	54,267,388 (GRCm39)	missense	probably damaging	1.00
R4616:Chn2	UTSW	6	54,267,388 (GRCm39)	missense	probably damaging	1.00
R5063:Chn2	UTSW	6	54,267,272 (GRCm39)	nonsense	probably null
R5121:Chn2	UTSW	6	54,195,546 (GRCm39)	missense	possibly damaging	0.57
R5208:Chn2	UTSW	6	54,272,786 (GRCm39)	missense	probably damaging	0.97
R5240:Chn2	UTSW	6	54,197,680 (GRCm39)	missense	probably benign
R5348:Chn2	UTSW	6	54,277,203 (GRCm39)	missense	probably damaging	0.99
R5861:Chn2	UTSW	6	54,267,359 (GRCm39)	missense	probably damaging	1.00
R6539:Chn2	UTSW	6	54,150,446 (GRCm39)	splice site	probably null
R6824:Chn2	UTSW	6	54,249,938 (GRCm39)	missense	probably benign	0.00
R7194:Chn2	UTSW	6	54,263,162 (GRCm39)	splice site	probably null
R7740:Chn2	UTSW	6	54,277,156 (GRCm39)	missense	probably benign	0.18
R7765:Chn2	UTSW	6	54,275,137 (GRCm39)	critical splice donor site	probably null
R7997:Chn2	UTSW	6	54,267,270 (GRCm39)	missense	probably damaging	1.00
R8477:Chn2	UTSW	6	54,246,467 (GRCm39)	splice site	probably null
R8804:Chn2	UTSW	6	54,250,061 (GRCm39)	missense	probably benign	0.01
R9297:Chn2	UTSW	6	54,272,840 (GRCm39)	missense	probably damaging	1.00
R9318:Chn2	UTSW	6	54,272,840 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18