Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Chn2'

671911

Institutional Source

Beutler Lab

Gene Symbol

Chn2

Ensembl Gene

ENSMUSG00000004633

Gene Name

chimerin 2

Synonyms

1700026N20Rik, 4930557O16Rik

MMRRC Submission

068641-MU

Accession Numbers

Essential gene?

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

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54016917-54278797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54250061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 193 (I193V)

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 benign
Transcript: ENSMUST00000046856
AA Change: I193V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: I193V

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: I57V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: I57V

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: I2V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: I2V

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: I2V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: I2V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146114
AA Change: I7V

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: I7V

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
AA Change: I57V

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145008
Gene: ENSMUSG00000004633
AA Change: I57V

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
AA Change: I57V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633
AA Change: I57V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204115
AA Change: I57V

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145507
Gene: ENSMUSG00000004633
AA Change: I57V

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
AA Change: I57V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
AA Change: I57V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204921
AA Change: I57V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000145231
Gene: ENSMUSG00000004633
AA Change: I57V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,682,820 (GRCm39)		probably benign	Het
Adamts1	A	G	16: 85,599,300 (GRCm39)	F100S	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Adgrb2	T	A	4: 129,899,212 (GRCm39)	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,552,652 (GRCm39)	V617E	probably damaging	Het
Akt1	T	C	12: 112,625,041 (GRCm39)	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,389,626 (GRCm39)	T600A	probably benign	Het
B4galt3	C	T	1: 171,103,947 (GRCm39)	H395Y	probably benign	Het
BC024139	T	G	15: 76,008,284 (GRCm39)	T376P	possibly damaging	Het
Bin3	A	G	14: 70,361,296 (GRCm39)	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,805 (GRCm39)	I480N	probably damaging	Het
Camsap3	A	G	8: 3,652,624 (GRCm39)	T401A	probably benign	Het
Ccdc168	T	C	1: 44,095,809 (GRCm39)	N1763S	probably benign	Het
Cdhr5	T	C	7: 140,849,320 (GRCm39)	T747A	probably benign	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Clec7a	T	C	6: 129,442,518 (GRCm39)	T125A	probably benign	Het
Cys1	A	T	12: 24,718,610 (GRCm39)	L81Q	unknown	Het
Dcbld2	G	A	16: 58,281,412 (GRCm39)		probably benign	Het
Ddx60	T	A	8: 62,411,640 (GRCm39)	D497E	probably benign	Het
Dnah2	T	C	11: 69,356,511 (GRCm39)	I2117V	probably benign	Het
Dnah6	G	A	6: 73,042,756 (GRCm39)	S3274F	probably benign	Het
Dock9	A	T	14: 121,842,595 (GRCm39)	I1225N	probably damaging	Het
Egfr	A	G	11: 16,819,339 (GRCm39)	T290A	probably benign	Het
Elmod2	T	A	8: 84,046,150 (GRCm39)	K142N	probably benign	Het
Ephx2	T	C	14: 66,324,469 (GRCm39)	T441A	probably benign	Het
Fam234a	A	G	17: 26,435,531 (GRCm39)		probably benign	Het
Fer1l4	C	A	2: 155,893,914 (GRCm39)	E102D	probably benign	Het
Fermt3	A	G	19: 6,991,694 (GRCm39)		probably benign	Het
Fgd5	C	T	6: 91,964,507 (GRCm39)	R247C	probably benign	Het
Gm14443	G	A	2: 175,011,652 (GRCm39)	H265Y	probably damaging	Het
Gykl1	A	G	18: 52,827,608 (GRCm39)	D272G	probably benign	Het
Hip1r	T	C	5: 124,139,575 (GRCm39)	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Ighv1-36	G	T	12: 114,843,581 (GRCm39)	T93K	probably benign	Het
Igsf10	T	G	3: 59,243,876 (GRCm39)	T153P	probably damaging	Het
Kif13b	T	C	14: 64,987,791 (GRCm39)	C773R	probably damaging	Het
Lipf	T	A	19: 33,942,198 (GRCm39)	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,093,972 (GRCm39)	D90G	probably damaging	Het
Msh5	A	T	17: 35,251,830 (GRCm39)	I410K	probably benign	Het
Mylk3	T	C	8: 86,085,874 (GRCm39)	D220G	probably benign	Het
Ncdn	G	A	4: 126,643,898 (GRCm39)	A308V	probably benign	Het
Nfu1	T	A	6: 86,993,414 (GRCm39)		probably benign	Het
Nup153	A	G	13: 46,840,635 (GRCm39)	V991A	probably benign	Het
Nup188	T	A	2: 30,220,891 (GRCm39)	H960Q	probably benign	Het
Parp4	G	T	14: 56,853,900 (GRCm39)	E839*	probably null	Het
Pfas	T	C	11: 68,881,908 (GRCm39)	N30D		Het
Pitpnc1	T	A	11: 107,103,431 (GRCm39)	N223Y	probably damaging	Het
Plaat1	T	A	16: 29,039,205 (GRCm39)	V95E	probably benign	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,708,039 (GRCm39)	T548A	unknown	Het
Psg20	A	T	7: 18,416,584 (GRCm39)	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,419,225 (GRCm39)	I173N	probably damaging	Het
Rimkla	G	A	4: 119,325,273 (GRCm39)	Q379*	probably null	Het
Rnasel	G	T	1: 153,629,661 (GRCm39)	G59V	probably damaging	Het
Rptn	A	T	3: 93,303,150 (GRCm39)	D161V	probably damaging	Het
Scrt1	C	A	15: 76,403,411 (GRCm39)	C193F	unknown	Het
Sdk2	G	T	11: 113,763,978 (GRCm39)	Y269*	probably null	Het
Sfxn2	G	C	19: 46,574,243 (GRCm39)		probably benign	Het
Slc17a4	G	T	13: 24,087,245 (GRCm39)	T264K	probably benign	Het
Slfn8	T	A	11: 82,907,639 (GRCm39)	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,655,523 (GRCm39)	S231F	probably benign	Het
Spag17	T	A	3: 99,874,506 (GRCm39)	S137T	probably benign	Het
Srd5a2	A	T	17: 74,354,629 (GRCm39)	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,511,900 (GRCm39)	H967R	probably benign	Het
Sun1	A	G	5: 139,216,920 (GRCm39)	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043 (GRCm39)	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,294,693 (GRCm39)	L15P	probably benign	Het
Tas2r140	T	A	6: 133,032,326 (GRCm39)	N144I	probably damaging	Het
Thpo	T	A	16: 20,544,707 (GRCm39)	R174S	probably damaging	Het
Tnik	A	T	3: 28,648,202 (GRCm39)	Q418L	unknown	Het
Tnr	A	T	1: 159,685,882 (GRCm39)	Q371L	probably benign	Het
Tulp2	G	A	7: 45,170,398 (GRCm39)	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,142,606 (GRCm39)	W29L	probably damaging	Het
Vrk3	T	A	7: 44,407,270 (GRCm39)	C80*	probably null	Het
Washc4	T	C	10: 83,408,015 (GRCm39)	L540P	probably damaging	Het
Wscd1	T	C	11: 71,675,161 (GRCm39)	F356S	probably damaging	Het
Wwc1	A	T	11: 35,774,144 (GRCm39)	M372K	probably benign	Het
Zfhx2	A	G	14: 55,312,191 (GRCm39)	F168L	probably benign	Het
Zfp28	A	G	7: 6,393,399 (GRCm39)	D175G	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
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
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'- AAGTACCATGTGCTCTCAGGAAC -3'
(R):5'- TCCACTTTGACACAAGGCAG -3'

Sequencing Primer
(F):5'- GGAACTGTGGCTGGAAAATG -3'
(R):5'- CAGCAGGGTTATGTGGAAAACCC -3'

Posted On

2021-04-30