Mutagenetix > Incidental Mutation

Incidental Mutation 'R5348:Chn2'

422731

Institutional Source

Beutler Lab

Gene Symbol

Chn2

Ensembl Gene

ENSMUSG00000004633

Gene Name

chimerin 2

Synonyms

1700026N20Rik, 4930557O16Rik

MMRRC Submission

042927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54016917-54278797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54277203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 279 (I279V)

Ref Sequence

ENSEMBL: ENSMUSP00000145231 (fasta)

Gene Model

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

AlphaFold

Q80XD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046856
AA Change: I461V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: I461V

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: I325V

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: I325V

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: I270V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: I270V

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

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 damaging
Transcript: ENSMUST00000146114
AA Change: I275V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: I275V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185712

Predicted Effect

probably benign
Transcript: ENSMUST00000204746
AA Change: I267V

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

SMART Domains

Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
AA Change: I267V

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

Predicted Effect

unknown
Transcript: ENSMUST00000204115
AA Change: I253V

SMART Domains

Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
AA Change: I253V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204921
AA Change: I279V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: I279V

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
AA Change: I221V

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

SMART Domains

Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633
AA Change: I221V

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,634 (GRCm39)	C275S	possibly damaging	Het
Bltp1	A	G	3: 37,102,295 (GRCm39)	E1331G	probably damaging	Het
Cdk12	T	A	11: 98,095,118 (GRCm39)	S309T	probably benign	Het
Cep295nl	T	C	11: 118,224,425 (GRCm39)	R140G	probably damaging	Het
Chd8	A	G	14: 52,470,155 (GRCm39)	V485A	probably damaging	Het
Cux2	A	G	5: 122,004,041 (GRCm39)	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,692,628 (GRCm39)	M44K	probably damaging	Het
Dpyd	T	A	3: 118,575,592 (GRCm39)	H143Q	probably benign	Het
Fbxo10	A	G	4: 45,058,934 (GRCm39)	W268R	probably damaging	Het
Gmfg	A	G	7: 28,145,819 (GRCm39)	D86G	probably benign	Het
Gpd1	T	C	15: 99,620,021 (GRCm39)	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393 (GRCm39)	I158T	probably damaging	Het
Itpr2	A	G	6: 146,378,191 (GRCm39)	F53L	possibly damaging	Het
Kctd21	A	G	7: 96,997,177 (GRCm39)	I217V	probably benign	Het
Lrfn2	A	G	17: 49,403,718 (GRCm39)	T614A	probably benign	Het
Lrrc7	T	A	3: 157,880,963 (GRCm39)	D491V	probably benign	Het
Myo7b	T	C	18: 32,116,972 (GRCm39)	E916G	probably damaging	Het
Nf1	C	T	11: 79,455,725 (GRCm39)	T550I	probably damaging	Het
Nsd1	A	G	13: 55,460,147 (GRCm39)	T2125A	probably benign	Het
Olfml2b	A	G	1: 170,489,995 (GRCm39)	E205G	probably benign	Het
Or8k37	A	T	2: 86,469,150 (GRCm39)	L301I	probably benign	Het
Papolb	T	C	5: 142,514,972 (GRCm39)	T224A	possibly damaging	Het
Pcnx2	T	C	8: 126,545,495 (GRCm39)	E1172G	probably damaging	Het
Ppip5k2	A	G	1: 97,675,317 (GRCm39)	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,887,438 (GRCm39)	Y59*	probably null	Het
Pramel12	T	C	4: 143,143,351 (GRCm39)	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,652,346 (GRCm39)	S76R	probably benign	Het
Rnh1	A	T	7: 140,743,321 (GRCm39)	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc4a7	G	T	14: 14,786,310 (GRCm38)	V999L	probably benign	Het
Slco4c1	A	T	1: 96,770,254 (GRCm39)	I270N	probably damaging	Het
Tdp1	A	G	12: 99,881,765 (GRCm39)	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,483,534 (GRCm39)	S650G	probably benign	Het
Ttn	T	C	2: 76,608,638 (GRCm39)	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,674,439 (GRCm39)	T856A	probably benign	Het
Vps13d	C	T	4: 144,792,459 (GRCm39)	G3726E	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAATCCGCCTGAGGTCTCTG -3'
(R):5'- GGTGGGAAATGCATACTGTACC -3'

Sequencing Primer
(F):5'- GTGCTTGCCTTCCAGGGTTAC -3'
(R):5'- CCACTAGCTCTATCAGCT -3'

Posted On

2016-08-04