Mutagenetix > Incidental Mutation

Incidental Mutation 'R9297:Chn2'

704653

Institutional Source

Beutler Lab

Gene Symbol

Chn2

Ensembl Gene

ENSMUSG00000004633

Gene Name

chimerin 2

Synonyms

1700026N20Rik, 4930557O16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54016917-54278797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54272840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 355 (Y355N)

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: Y355N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035908
Gene: ENSMUSG00000004633
AA Change: Y355N

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 damaging
Transcript: ENSMUST00000067741
AA Change: Y219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066078
Gene: ENSMUSG00000004633
AA Change: Y219N

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: Y164N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110043
Gene: ENSMUSG00000004633
AA Change: Y164N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114402
AA Change: Y164N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110044
Gene: ENSMUSG00000004633
AA Change: Y164N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146114
AA Change: Y169N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114476
Gene: ENSMUSG00000004633
AA Change: Y169N

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: ENSMUST00000203941

SMART Domains

Protein: ENSMUSP00000145314
Gene: ENSMUSG00000004633

Domain	Start	End	E-Value	Type
RhoGAP	101	225	1.2e-22	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 damaging
Transcript: ENSMUST00000204746
AA Change: Y161N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144983
Gene: ENSMUSG00000004633
AA Change: Y161N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,599,534 (GRCm39)	Q22R	probably benign	Het
Adamts20	A	G	15: 94,301,321 (GRCm39)	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,491,466 (GRCm39)	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,299,081 (GRCm39)	M1594R	unknown	Het
Alkbh3	A	G	2: 93,835,082 (GRCm39)	S88P	probably damaging	Het
Angpt1	A	G	15: 42,301,751 (GRCm39)	I419T	probably benign	Het
Ankrd31	A	T	13: 97,015,085 (GRCm39)	L1451F	probably benign	Het
Ap1b1	T	C	11: 4,990,157 (GRCm39)	I860T	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Astn2	T	C	4: 65,460,960 (GRCm39)	D1058G	possibly damaging	Het
Atg3	A	G	16: 44,987,371 (GRCm39)	H48R	possibly damaging	Het
Bnc2	A	C	4: 84,474,136 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,496,887 (GRCm39)	Y453H	probably benign	Het
Catsperg1	T	C	7: 28,891,085 (GRCm39)	T653A	probably benign	Het
Ccdc102a	A	G	8: 95,638,120 (GRCm39)	S249P	possibly damaging	Het
Ccdc125	A	G	13: 100,832,920 (GRCm39)	Y499C	probably damaging	Het
Ccdc141	A	G	2: 76,842,028 (GRCm39)	F1468L	probably benign	Het
Ccdc162	C	A	10: 41,506,110 (GRCm39)	M893I	probably benign	Het
Ccdc33	C	A	9: 57,993,876 (GRCm39)	W335L	possibly damaging	Het
Clec4g	A	G	8: 3,766,500 (GRCm39)	M267T	probably damaging	Het
Cpa6	A	T	1: 10,554,273 (GRCm39)	D111E	possibly damaging	Het
Crlf3	A	G	11: 79,950,031 (GRCm39)	C200R	probably damaging	Het
Cyp4a10	T	C	4: 115,378,375 (GRCm39)	S164P	probably damaging	Het
Def6	A	G	17: 28,436,714 (GRCm39)	N126S	probably damaging	Het
Diaph1	G	A	18: 38,022,828 (GRCm39)	T782I	probably benign	Het
Dnah5	A	C	15: 28,204,054 (GRCm39)		probably benign	Het
Eme1	A	T	11: 94,541,614 (GRCm39)	S69R	probably benign	Het
Fat3	A	T	9: 15,908,996 (GRCm39)	D2335E	probably damaging	Het
Fstl4	A	G	11: 53,024,973 (GRCm39)	K282E	possibly damaging	Het
Galnt7	T	C	8: 57,995,555 (GRCm39)	E380G	probably damaging	Het
Gm973	A	T	1: 59,583,829 (GRCm39)	Y204F	probably damaging	Het
Hace1	T	A	10: 45,528,769 (GRCm39)	S337T	probably benign	Het
Ipo8	C	A	6: 148,703,076 (GRCm39)	C416F	possibly damaging	Het
Kcnt2	T	C	1: 140,352,933 (GRCm39)	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,411,275 (GRCm39)	L203I	probably benign	Het
Kif26b	C	T	1: 178,543,374 (GRCm39)	Q336*	probably null	Het
Krt36	A	G	11: 99,994,271 (GRCm39)	Y269H	probably damaging	Het
Lamc1	G	T	1: 153,127,746 (GRCm39)	R386S	probably damaging	Het
Lipc	T	A	9: 70,727,736 (GRCm39)	D122V	probably damaging	Het
Lrba	A	G	3: 86,280,873 (GRCm39)	T1841A	probably damaging	Het
Lrit1	T	A	14: 36,783,993 (GRCm39)	D440E	probably damaging	Het
Map4	T	C	9: 109,882,480 (GRCm39)	I448T	probably benign	Het
Megf8	G	T	7: 25,030,511 (GRCm39)	C488F	probably damaging	Het
Mllt6	A	G	11: 97,563,314 (GRCm39)	E299G	probably damaging	Het
Mpst	G	T	15: 78,294,642 (GRCm39)	V125L	probably damaging	Het
Msx1	G	A	5: 37,981,756 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,302,759 (GRCm39)	E473G		Het
Myo15a	A	G	11: 60,385,899 (GRCm39)	R602G	probably null	Het
Myod1	A	T	7: 46,026,356 (GRCm39)	H87L	probably damaging	Het
Nid1	T	C	13: 13,650,897 (GRCm39)	V478A	possibly damaging	Het
Obscn	A	T	11: 58,898,359 (GRCm39)	I6634N	unknown	Het
Or52ab7	T	A	7: 102,978,583 (GRCm39)	Y297N	probably damaging	Het
Or52e7	T	C	7: 104,684,830 (GRCm39)	Y142H	probably damaging	Het
Or8k22	A	G	2: 86,163,188 (GRCm39)	Y171H	probably benign	Het
Pdgfrl	C	T	8: 41,391,268 (GRCm39)	S66F	probably damaging	Het
Phf20	G	A	2: 156,115,690 (GRCm39)	R337H	probably benign	Het
Pkhd1	T	A	1: 20,293,118 (GRCm39)	Y2834F	probably benign	Het
Plekhg4	A	C	8: 106,105,907 (GRCm39)	E768A	probably damaging	Het
Prss37	A	T	6: 40,491,909 (GRCm39)	Y224N	probably damaging	Het
Ptprs	A	T	17: 56,765,257 (GRCm39)	V9E	probably damaging	Het
Ptprt	A	G	2: 161,417,698 (GRCm39)	L926S	probably benign	Het
Rgl1	G	A	1: 152,400,454 (GRCm39)	T649I	possibly damaging	Het
Serpinf1	A	G	11: 75,307,251 (GRCm39)	S29P	probably damaging	Het
Skint6	A	T	4: 112,668,717 (GRCm39)	D1119E	probably benign	Het
Snw1	T	C	12: 87,505,674 (GRCm39)	K255E	probably damaging	Het
Sox6	T	C	7: 115,261,557 (GRCm39)	I220V	probably benign	Het
Stimate	T	A	14: 30,588,639 (GRCm39)	V122E	probably damaging	Het
Tas2r114	A	G	6: 131,666,287 (GRCm39)	I247T	probably damaging	Het
Tmem145	C	T	7: 25,008,257 (GRCm39)	T280M	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp219	T	C	14: 52,246,494 (GRCm39)	H211R	probably damaging	Het
Zfp42	T	C	8: 43,748,772 (GRCm39)	N243S	possibly damaging	Het
Zkscan4	T	A	13: 21,668,201 (GRCm39)	S246R	probably benign	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
R8804:Chn2	UTSW	6	54,250,061 (GRCm39)	missense	probably benign	0.01
R9318:Chn2	UTSW	6	54,272,840 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCCTCTCTGTTACCCCAAG -3'
(R):5'- CTTGGTGAGTTCCAGCTAGG -3'

Sequencing Primer
(F):5'- TCTGTTACCCCAAGACCCTAACATG -3'
(R):5'- AGCTAGGTTTCTATTTGCTGCAC -3'

Posted On

2022-03-25