Mutagenetix > Incidental Mutation

Incidental Mutation 'R1496:Chn1'

168838

Institutional Source

Beutler Lab

Gene Symbol

Chn1

Ensembl Gene

ENSMUSG00000056486

Gene Name

chimerin 1

Synonyms

ARHGAP2, 2900046J01Rik, 1700112L09Rik, alpha2 chimaerin, alpha1 chimaerin, 0710001E19Rik, 0610007I19Rik

MMRRC Submission

039547-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73441004-73605690 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 73509951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112024] [ENSMUST00000135904] [ENSMUST00000139252] [ENSMUST00000166199] [ENSMUST00000180045]

AlphaFold

Q91V57

Predicted Effect

probably benign
Transcript: ENSMUST00000112024

SMART Domains

Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486

Domain	Start	End	E-Value	Type
SH2	47	126	7.63e-15	SMART
C1	206	255	5.6e-14	SMART
RhoGAP	279	456	3.41e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124450

Predicted Effect

probably benign
Transcript: ENSMUST00000135904

SMART Domains

Protein: ENSMUSP00000115029
Gene: ENSMUSG00000056486

Domain	Start	End	E-Value	Type
SH2	1	74	1.84e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139252

SMART Domains

Protein: ENSMUSP00000123312
Gene: ENSMUSG00000056486

Domain	Start	End	E-Value	Type
Pfam:SH2	49	87	1.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166199

SMART Domains

Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486

Domain	Start	End	E-Value	Type
SH2	47	126	7.63e-15	SMART
RhoGAP	228	398	2.36e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180045

SMART Domains

Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486

Domain	Start	End	E-Value	Type
RhoGAP	30	207	3.41e-74	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229987

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homologous for a null allele exhibit transient postnatal size reduction, abnormal gait and abnormal innervation of the spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,221,552 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,041,489 (GRCm39)	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,266,298 (GRCm39)	L832Q	probably damaging	Het
Acan	T	A	7: 78,750,552 (GRCm39)	H1774Q	probably benign	Het
Adss2	T	C	1: 177,599,760 (GRCm39)	T275A	probably benign	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Araf	G	T	X: 20,725,943 (GRCm39)	R522L	probably damaging	Het
Arhgef28	C	T	13: 98,102,054 (GRCm39)	V807I	possibly damaging	Het
Bin1	T	C	18: 32,545,757 (GRCm39)	I103T	probably damaging	Het
C4b	C	T	17: 34,958,995 (GRCm39)	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,568,047 (GRCm39)	P1015S	probably benign	Het
Capn1	A	G	19: 6,057,528 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,374,828 (GRCm39)	Q1358R	probably damaging	Het
Cfap126	T	C	1: 170,953,386 (GRCm39)		probably benign	Het
Cldn8	T	C	16: 88,359,289 (GRCm39)	E212G	probably benign	Het
Cpb1	T	C	3: 20,317,696 (GRCm39)	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,639,412 (GRCm39)	I138F	probably benign	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,021,422 (GRCm39)	M538T	probably benign	Het
Dhrs4	T	G	14: 55,725,107 (GRCm39)	L201V	probably damaging	Het
Dnah12	C	T	14: 26,431,403 (GRCm39)	A407V	probably benign	Het
Elavl3	T	A	9: 21,937,461 (GRCm39)		probably benign	Het
Elp4	T	C	2: 105,662,506 (GRCm39)	H88R	probably benign	Het
Ercc3	T	C	18: 32,394,350 (GRCm39)		probably benign	Het
Eri1	A	G	8: 35,936,335 (GRCm39)	S329P	possibly damaging	Het
Erich2	A	T	2: 70,343,117 (GRCm39)		probably benign	Het
Esyt1	A	G	10: 128,348,297 (GRCm39)	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,557,588 (GRCm39)	E141G	probably damaging	Het
Fat1	A	G	8: 45,486,427 (GRCm39)	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,151,415 (GRCm39)	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,887,094 (GRCm39)	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,495,372 (GRCm39)	D194G	probably damaging	Het
Gpr89	A	G	3: 96,812,526 (GRCm39)	I5T	probably benign	Het
Gpx6	A	T	13: 21,503,090 (GRCm39)	H168L	probably benign	Het
Gusb	T	C	5: 130,027,385 (GRCm39)	T307A	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,477,193 (GRCm39)	D118G	probably benign	Het
Ipcef1	A	T	10: 6,885,173 (GRCm39)		probably null	Het
Kbtbd3	A	T	9: 4,330,276 (GRCm39)	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,374,880 (GRCm39)	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,213,674 (GRCm39)	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Map1lc3b	C	T	8: 122,323,339 (GRCm39)	R70C	possibly damaging	Het
Meiob	T	A	17: 25,032,026 (GRCm39)	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330 (GRCm39)	Y183*	probably null	Het
Mrs2	T	C	13: 25,189,017 (GRCm39)	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,396,387 (GRCm39)	K151R	probably benign	Het
Neb	T	G	2: 52,218,746 (GRCm39)	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,797,944 (GRCm39)	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,893,417 (GRCm39)	T122I	probably damaging	Het
Nuggc	A	T	14: 65,861,582 (GRCm39)	N476I	probably damaging	Het
Obscn	T	A	11: 58,921,862 (GRCm39)	H5978L	probably benign	Het
Oc90	G	T	15: 65,748,370 (GRCm39)	A412D	probably damaging	Het
Or2l13b	T	A	16: 19,349,133 (GRCm39)	D179V	possibly damaging	Het
Or3a4	A	G	11: 73,944,650 (GRCm39)	*312Q	probably null	Het
Or4a76	A	G	2: 89,460,358 (GRCm39)	S295P	possibly damaging	Het
Or5w18	T	G	2: 87,633,212 (GRCm39)	S160A	probably benign	Het
Or7a42	T	A	10: 78,791,682 (GRCm39)	S214R	probably benign	Het
Or8k33	A	T	2: 86,384,096 (GRCm39)	V124E	probably damaging	Het
Pdzrn3	A	T	6: 101,127,930 (GRCm39)	V912E	probably benign	Het
Phactr1	T	A	13: 43,248,466 (GRCm39)	Y387N	probably damaging	Het
Picalm	T	A	7: 89,779,859 (GRCm39)	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,891,077 (GRCm39)	I314F	possibly damaging	Het
Pold2	T	C	11: 5,824,175 (GRCm39)	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,523 (GRCm39)		probably benign	Het
Rac1	G	T	5: 143,493,093 (GRCm39)	A165E	probably damaging	Het
Rpap3	G	T	15: 97,584,364 (GRCm39)	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,357,232 (GRCm39)	T1012I	probably benign	Het
Sdad1	A	G	5: 92,457,682 (GRCm39)	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,903,127 (GRCm39)	K180T	probably damaging	Het
Sgpl1	T	C	10: 60,938,368 (GRCm39)	N475S	probably damaging	Het
Shroom3	T	C	5: 93,090,693 (GRCm39)	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,026,442 (GRCm39)	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489 (GRCm39)	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,251,997 (GRCm39)	I36V	probably benign	Het
Smarca2	C	G	19: 26,608,501 (GRCm39)	P263A	possibly damaging	Het
Sp100	T	C	1: 85,591,242 (GRCm39)		probably benign	Het
Spag6l	A	G	16: 16,598,478 (GRCm39)		probably benign	Het
Sptbn1	T	C	11: 30,071,498 (GRCm39)	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,245,115 (GRCm39)	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,845,719 (GRCm39)	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,668,313 (GRCm39)		probably null	Het
Tnfrsf9	T	A	4: 151,017,561 (GRCm39)		probably null	Het
Tnni3k	T	C	3: 154,645,295 (GRCm39)	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,989,934 (GRCm39)	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,780,714 (GRCm39)	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,782,071 (GRCm39)	H541P	probably damaging	Het
Zfp84	A	G	7: 29,476,039 (GRCm39)	I244V	possibly damaging	Het
Zyx	A	G	6: 42,333,246 (GRCm39)	Y393C	probably damaging	Het

Other mutations in Chn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Chn1	APN	2	73,462,096 (GRCm39)	missense	probably damaging	1.00
P0043:Chn1	UTSW	2	73,454,509 (GRCm39)	missense	probably damaging	0.98
R0107:Chn1	UTSW	2	73,445,028 (GRCm39)	missense	probably damaging	1.00
R0410:Chn1	UTSW	2	73,462,094 (GRCm39)	nonsense	probably null
R1935:Chn1	UTSW	2	73,455,245 (GRCm39)	missense	probably damaging	1.00
R1939:Chn1	UTSW	2	73,455,245 (GRCm39)	missense	probably damaging	1.00
R1940:Chn1	UTSW	2	73,455,245 (GRCm39)	missense	probably damaging	1.00
R4457:Chn1	UTSW	2	73,443,427 (GRCm39)	missense	probably damaging	0.96
R5005:Chn1	UTSW	2	73,490,130 (GRCm39)	missense	possibly damaging	0.63
R5843:Chn1	UTSW	2	73,510,092 (GRCm39)	missense	probably benign	0.40
R6247:Chn1	UTSW	2	73,537,350 (GRCm39)	missense	possibly damaging	0.95
R6564:Chn1	UTSW	2	73,448,385 (GRCm39)	missense	probably damaging	1.00
R7371:Chn1	UTSW	2	73,510,234 (GRCm39)	missense	probably damaging	1.00
R8046:Chn1	UTSW	2	73,448,363 (GRCm39)	missense	probably damaging	1.00
R9072:Chn1	UTSW	2	73,443,430 (GRCm39)	missense	probably benign	0.38
R9222:Chn1	UTSW	2	73,443,499 (GRCm39)	missense	probably damaging	1.00
R9644:Chn1	UTSW	2	73,490,184 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACAAAGGGTTCGCTGAGATCCCTC -3'
(R):5'- CAAGGCAGCAGAATACATTGCCAAG -3'

Sequencing Primer
(F):5'- GTTATTCTCCTGACCAAAACCG -3'
(R):5'- GCAGAATACATTGCCAAGATGAC -3'

Posted On

2014-04-13