Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Chn2'

351038

Institutional Source

Beutler Lab

Gene Symbol

Chn2

Ensembl Gene

ENSMUSG00000004633

Gene Name

chimerin 2

Synonyms

4930557O16Rik, 1700026N20Rik

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

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

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54039554-54301810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54290403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 292 (M292I)

Ref Sequence

ENSEMBL: ENSMUSP00000035908 (fasta)

Gene Model

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

AlphaFold

Q80XD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046856
AA Change: M292I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: M292I

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: M156I

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: M156I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114401
AA Change: M101I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: M101I

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: M101I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: M101I

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: M106I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: M106I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203091
AA Change: M156I

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
AA Change: M156I

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 damaging
Transcript: ENSMUST00000204115
AA Change: M156I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
AA Change: M156I

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: 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
AA Change: M156I

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: M156I

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

Meta Mutation Damage Score

0.1098

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788		probably benign	Het
Arhgef17	A	G	7: 100,882,485	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068	H962L	probably benign	Het
Clec16a	T	A	16: 10,644,883		probably null	Het
Cyp1a1	T	C	9: 57,701,756	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872	V585A	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397		probably null	Het
Lamc2	T	C	1: 153,166,169	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrgbp	A	T	2: 180,585,314		silent	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487		probably null	Het
Myo9a	T	C	9: 59,821,649	I596T	probably damaging	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr594	C	T	7: 103,220,422	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513		probably null	Het
Slc35a5	A	T	16: 45,144,292	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757		noncoding transcript	Het
Stard5	G	T	7: 83,633,281		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685	T61A	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067	S3556P	possibly damaging	Het

Other mutations in Chn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Chn2	APN	6	54295922	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTGGCAGCACATAGTTTGTC -3'
(R):5'- TGTGTATGCAAGCCATTGTCC -3'

Sequencing Primer
(F):5'- TTTGATGAAGGGACCCAGTGAC -3'
(R):5'- TGCAAGCCATTGTCCTAAAGG -3'

Posted On

2015-10-08