Mutagenetix > Incidental Mutation

Incidental Mutation 'R0410:Chn1'

36547

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

038612-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R0410 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

73441004-73605690 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 73462094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 236 (C236*)

Ref Sequence

ENSEMBL: ENSMUSP00000128847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102677] [ENSMUST00000112024] [ENSMUST00000136953] [ENSMUST00000139252] [ENSMUST00000154258] [ENSMUST00000166199] [ENSMUST00000180045]

AlphaFold

Q91V57

Predicted Effect

probably null
Transcript: ENSMUST00000102677
AA Change: C111*

SMART Domains

Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: C111*

Domain	Start	End	E-Value	Type
C1	81	130	5.6e-14	SMART
RhoGAP	154	331	3.41e-74	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112024
AA Change: C236*

SMART Domains

Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486
AA Change: C236*

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 null
Transcript: ENSMUST00000136953
AA Change: C11*

SMART Domains

Protein: ENSMUSP00000123551
Gene: ENSMUSG00000056486
AA Change: C11*

Domain	Start	End	E-Value	Type
Pfam:C1_1	1	33	7.3e-10	PFAM
Pfam:RhoGAP	57	81	2.9e-7	PFAM

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 null
Transcript: ENSMUST00000154258
AA Change: C11*

SMART Domains

Protein: ENSMUSP00000116417
Gene: ENSMUSG00000056486
AA Change: C11*

Domain	Start	End	E-Value	Type
Pfam:C1_1	1	33	6.6e-10	PFAM
Pfam:RhoGAP	57	95	1.8e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166199
AA Change: C236*

SMART Domains

Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486
AA Change: C236*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231013

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: ENSMUST00000229987

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,268 (GRCm39)	D170G	probably benign	Het
Actrt3	C	T	3: 30,652,273 (GRCm39)	G274S	probably benign	Het
Adamts18	G	T	8: 114,440,990 (GRCm39)	C889*	probably null	Het
Alkbh6	C	T	7: 30,012,031 (GRCm39)	P104S	probably damaging	Het
Alms1	A	T	6: 85,564,785 (GRCm39)	E53V	unknown	Het
Ap3s1	T	C	18: 46,912,279 (GRCm39)	C100R	probably benign	Het
Apbb2	G	T	5: 66,609,149 (GRCm39)	A166E	possibly damaging	Het
Asph	A	G	4: 9,595,415 (GRCm39)	V174A	probably damaging	Het
Cacna2d2	T	C	9: 107,401,819 (GRCm39)	L758P	probably damaging	Het
Cacng5	A	G	11: 107,768,195 (GRCm39)	S271P	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Coro1b	T	C	19: 4,199,362 (GRCm39)	V7A	probably damaging	Het
Dhx16	A	G	17: 36,201,859 (GRCm39)	Y962C	probably damaging	Het
Dixdc1	T	C	9: 50,596,153 (GRCm39)	D152G	probably damaging	Het
Dmrt1	T	C	19: 25,483,467 (GRCm39)	S84P	probably damaging	Het
Dnah10	A	G	5: 124,832,799 (GRCm39)	D844G	probably benign	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Efcab7	T	C	4: 99,735,487 (GRCm39)		probably null	Het
Fam83g	A	G	11: 61,594,218 (GRCm39)	D584G	probably damaging	Het
Fbxo7	T	A	10: 85,865,102 (GRCm39)		probably null	Het
Ffar1	T	C	7: 30,560,055 (GRCm39)	T281A	probably benign	Het
Fntb	T	C	12: 76,934,826 (GRCm39)	V201A	probably benign	Het
Gart	C	A	16: 91,438,215 (GRCm39)	A101S	probably damaging	Het
Gbp9	T	C	5: 105,232,939 (GRCm39)	T238A	probably benign	Het
Hectd4	T	C	5: 121,424,329 (GRCm39)	L663S	possibly damaging	Het
Helz2	A	T	2: 180,872,386 (GRCm39)	V2512E	probably damaging	Het
Hip1	A	C	5: 135,487,009 (GRCm39)	L66R	probably damaging	Het
Iigp1	T	A	18: 60,523,375 (GRCm39)	D164E	probably benign	Het
Kcnip3	A	G	2: 127,301,986 (GRCm39)	S193P	probably damaging	Het
Klra9	T	A	6: 130,165,707 (GRCm39)	T103S	probably benign	Het
Meis2	T	C	2: 115,694,709 (GRCm39)	*471W	probably null	Het
Minar1	T	G	9: 89,484,256 (GRCm39)	E380D	probably damaging	Het
Mrpl21	T	C	19: 3,334,792 (GRCm39)	S45P	possibly damaging	Het
Mterf1b	A	G	5: 4,246,488 (GRCm39)	E43G	probably benign	Het
Mycbp2	G	T	14: 103,372,569 (GRCm39)	S4092R	probably damaging	Het
Nfatc3	A	T	8: 106,822,828 (GRCm39)	N538I	probably damaging	Het
Nphp4	T	C	4: 152,641,503 (GRCm39)	C1095R	probably benign	Het
Npm2	T	A	14: 70,889,993 (GRCm39)	T13S	probably benign	Het
Or1m1	C	A	9: 18,666,137 (GRCm39)	V265F	probably damaging	Het
Or7e176	T	A	9: 20,171,797 (GRCm39)	F220L	probably benign	Het
Plcg2	A	T	8: 118,342,112 (GRCm39)	I1158F	probably damaging	Het
Popdc3	T	C	10: 45,193,829 (GRCm39)	V210A	possibly damaging	Het
Postn	T	C	3: 54,292,698 (GRCm39)	L755S	possibly damaging	Het
Prdx6b	T	C	2: 80,123,373 (GRCm39)	F61L	probably damaging	Het
Rars1	C	T	11: 35,716,847 (GRCm39)	R223H	probably damaging	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Scaf4	A	G	16: 90,057,058 (GRCm39)	Y98H	unknown	Het
Scn4a	A	G	11: 106,214,775 (GRCm39)	I1274T	probably damaging	Het
Senp2	G	T	16: 21,828,444 (GRCm39)	R18L	probably damaging	Het
Six5	T	A	7: 18,830,381 (GRCm39)	V336D	probably damaging	Het
Slc31a2	G	A	4: 62,210,890 (GRCm39)	E8K	probably benign	Het
Slc4a7	A	T	14: 14,738,299 (GRCm38)	T184S	probably damaging	Het
Slco2a1	T	A	9: 102,950,513 (GRCm39)		probably null	Het
Smr3a	T	G	5: 88,156,070 (GRCm39)		probably benign	Het
Sqor	T	C	2: 122,629,442 (GRCm39)	V100A	probably benign	Het
Srarp	T	C	4: 141,160,459 (GRCm39)	N125D	possibly damaging	Het
Stam	T	C	2: 14,143,802 (GRCm39)	V364A	probably benign	Het
Tgm5	T	C	2: 120,908,039 (GRCm39)	I46V	possibly damaging	Het
Tie1	A	T	4: 118,337,766 (GRCm39)	V443E	probably damaging	Het
Tipin	T	C	9: 64,195,397 (GRCm39)	M1T	probably null	Het
Tnc	T	C	4: 63,925,931 (GRCm39)	T950A	probably benign	Het
Tns3	T	C	11: 8,385,852 (GRCm39)	D1382G	probably benign	Het
Tor1aip1	A	G	1: 155,911,686 (GRCm39)	V99A	possibly damaging	Het
Trim16	C	T	11: 62,711,297 (GRCm39)		probably benign	Het
Ttn	G	T	2: 76,618,701 (GRCm39)	N14448K	possibly damaging	Het
Ttn	C	T	2: 76,717,204 (GRCm39)		probably benign	Het
Tut4	A	G	4: 108,343,752 (GRCm39)	R255G	probably benign	Het
Vmn1r23	A	G	6: 57,903,175 (GRCm39)	I201T	probably benign	Het
Vmn2r13	T	A	5: 109,321,679 (GRCm39)	K339N	probably benign	Het
Yap1	A	G	9: 8,001,468 (GRCm39)	Y173H	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
R1496:Chn1	UTSW	2	73,509,951 (GRCm39)	splice site	probably benign
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'- GCAACACCAAGGGCAAATGCTG -3'
(R):5'- TCAAGACACTGTCAACCCTGCTTC -3'

Sequencing Primer
(F):5'- TGCTGAACATAACCACCTTGC -3'
(R):5'- AGACATGCCAGTGTTTGCC -3'

Posted On

2013-05-09