Mutagenetix > Incidental Mutation

Incidental Mutation 'R5005:Chn1'

390131

Institutional Source

Beutler Lab

Gene Symbol

Chn1

Ensembl Gene

ENSMUSG00000056486

Gene Name

chimerin 1

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

R5005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73441004-73605690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73490130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 49 (Q49L)

Ref Sequence

ENSEMBL: ENSMUSP00000099738 (fasta)

Gene Model

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

AlphaFold

Q91V57

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102677
AA Change: Q49L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: Q49L

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

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

noncoding transcript
Transcript: ENSMUST00000123613

Predicted Effect

probably benign
Transcript: ENSMUST00000124450

Predicted Effect

probably benign
Transcript: ENSMUST00000136953

SMART Domains

Protein: ENSMUSP00000123551
Gene: ENSMUSG00000056486

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 benign
Transcript: ENSMUST00000154258

SMART Domains

Protein: ENSMUSP00000116417
Gene: ENSMUSG00000056486

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 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

noncoding transcript
Transcript: ENSMUST00000229987

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	C	11: 83,230,218 (GRCm39)	V412A	probably damaging	Het
Asic2	T	C	11: 80,774,252 (GRCm39)	Y455C	probably damaging	Het
Bbx	T	C	16: 50,086,714 (GRCm39)	K61E	probably damaging	Het
Cd207	T	C	6: 83,651,367 (GRCm39)	E196G	possibly damaging	Het
Cpd	A	G	11: 76,704,396 (GRCm39)	I406T	probably damaging	Het
D630003M21Rik	C	T	2: 158,053,563 (GRCm39)	V642I	possibly damaging	Het
Dnah7b	C	T	1: 46,281,188 (GRCm39)	L2750F	probably damaging	Het
Epyc	A	G	10: 97,510,562 (GRCm39)	T122A	probably benign	Het
Kcnt1	A	G	2: 25,791,358 (GRCm39)	H567R	probably damaging	Het
Magi2	A	G	5: 20,739,444 (GRCm39)	D729G	probably damaging	Het
Myh4	G	T	11: 67,144,241 (GRCm39)	V1204L	probably benign	Het
Noa1	T	C	5: 77,456,873 (GRCm39)	Y344C	probably damaging	Het
Or1j19	A	G	2: 36,677,370 (GRCm39)	M278V	probably benign	Het
Or4c102	A	G	2: 88,422,348 (GRCm39)	M67V	probably benign	Het
Pex1	T	C	5: 3,672,310 (GRCm39)	S718P	probably damaging	Het
Plxnb1	T	A	9: 108,935,647 (GRCm39)	V1061E	probably benign	Het
Rdh16f1	A	G	10: 127,624,546 (GRCm39)	Q128R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc26a9	A	T	1: 131,693,625 (GRCm39)	Q705L	probably damaging	Het
Tas2r143	T	A	6: 42,377,658 (GRCm39)	C163S	probably benign	Het
Tigd2	A	G	6: 59,188,131 (GRCm39)	T333A	probably benign	Het
Urb2	T	C	8: 124,757,920 (GRCm39)	V1209A	probably damaging	Het
Vmn2r71	T	A	7: 85,273,352 (GRCm39)	V722D	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
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
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'- ATGAGCCTGTAACACTGCACAC -3'
(R):5'- AGTAGAGTTCACCGGCAGTC -3'

Sequencing Primer
(F):5'- TGCACACTCCAAGCACTGAG -3'
(R):5'- AGTCGCAGGCTGACACAG -3'

Posted On

2016-06-06