Mutagenetix > Incidental Mutation

Incidental Mutation 'R0002:Chn2'

8118

Institutional Source

Beutler Lab

Gene Symbol

Chn2

Ensembl Gene

ENSMUSG00000004633

Gene Name

chimerin 2

Synonyms

1700026N20Rik, 4930557O16Rik

MMRRC Submission

038298-MU

Accession Numbers

Essential gene?

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

Stock #

R0002 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

54016917-54278797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54250098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 69 (N69S)

Ref Sequence

ENSEMBL: ENSMUSP00000145507 (fasta)

Gene Model

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

AlphaFold

Q80XD1

Predicted Effect

probably benign
Transcript: ENSMUST00000046856
AA Change: N205S

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: N205S

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 benign
Transcript: ENSMUST00000067741
AA Change: N69S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: N69S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114401
AA Change: N14S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: N14S

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: N14S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: N14S

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: ENSMUST00000138259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145111

Predicted Effect

probably benign
Transcript: ENSMUST00000203941
AA Change: N69S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633
AA Change: N69S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204115
AA Change: N69S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
AA Change: N69S

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: ENSMUST00000203091
AA Change: N69S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
AA Change: N69S

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: N69S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
AA Change: N69S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204921
AA Change: N69S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: N69S

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: ENSMUST00000146114
AA Change: N19S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: N19S

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

Meta Mutation Damage Score

0.0920

Coding Region Coverage

1x: 85.4%
3x: 79.5%
10x: 62.0%
20x: 53.1%

Validation Efficiency

95% (61/64)

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,176,649 (GRCm39)		probably benign	Het
Bcl2	T	C	1: 106,640,241 (GRCm39)	R124G	possibly damaging	Het
Bri3	G	T	5: 144,181,312 (GRCm39)	C6F	probably benign	Het
Col5a3	T	A	9: 20,721,152 (GRCm39)		probably null	Het
Dhx36	A	C	3: 62,388,260 (GRCm39)	L625W	probably damaging	Het
Exph5	G	T	9: 53,285,256 (GRCm39)	R779I	probably damaging	Het
F5	T	C	1: 164,029,200 (GRCm39)	F1733S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iqch	T	C	9: 63,502,025 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Pate14	A	T	9: 36,548,655 (GRCm39)	D59E	probably damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pik3c2g	A	G	6: 139,714,471 (GRCm39)	T208A	probably benign	Het
Prkag3	T	C	1: 74,783,947 (GRCm39)	D312G	probably damaging	Het
Slc26a5	T	A	5: 22,019,981 (GRCm39)	I530F	probably damaging	Het
Tacc2	T	A	7: 130,223,515 (GRCm39)	S67T	probably damaging	Het
Tas2r113	T	A	6: 132,870,742 (GRCm39)	S257T	probably benign	Het
Tnr	T	C	1: 159,701,770 (GRCm39)	Y624H	probably damaging	Het
Ubr4	T	C	4: 139,118,211 (GRCm39)	L112P	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
IGL02807:Chn2	APN	6	54,272,898 (GRCm39)	missense	possibly damaging	0.80
IGL03357:Chn2	APN	6	54,171,062 (GRCm39)	missense	probably benign	0.02
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

2012-11-20