Mutagenetix > Incidental Mutation

Incidental Mutation 'R8046:Chn1'

618731

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

067483-MU

Accession Numbers

Essential gene?

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

Stock #

R8046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73441004-73605690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73448363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 335 (D335G)

Ref Sequence

ENSEMBL: ENSMUSP00000107655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070579] [ENSMUST00000102677] [ENSMUST00000112024] [ENSMUST00000166199] [ENSMUST00000180045] [ENSMUST00000229731]

AlphaFold

Q91V57

Predicted Effect

probably damaging
Transcript: ENSMUST00000070579
AA Change: D86G

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

SMART Domains

Protein: ENSMUSP00000070301
Gene: ENSMUSG00000056486
AA Change: D86G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102677
AA Change: D210G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099738
Gene: ENSMUSG00000056486
AA Change: D210G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112024
AA Change: D335G

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

SMART Domains

Protein: ENSMUSP00000107655
Gene: ENSMUSG00000056486
AA Change: D335G

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 damaging
Transcript: ENSMUST00000166199
AA Change: D277G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128847
Gene: ENSMUSG00000056486
AA Change: D277G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000180045
AA Change: D86G

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

SMART Domains

Protein: ENSMUSP00000137106
Gene: ENSMUSG00000056486
AA Change: D86G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229731
AA Change: D86G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	T	5: 77,044,325 (GRCm39)	D188E	probably benign	Het
Ahcyl2	T	C	6: 29,878,619 (GRCm39)	L273P	probably damaging	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Angpt1	T	C	15: 42,359,752 (GRCm39)	T227A	probably benign	Het
Ankle1	C	T	8: 71,860,665 (GRCm39)	T374M	probably damaging	Het
Arhgap18	T	C	10: 26,763,853 (GRCm39)	V481A	probably damaging	Het
Astn2	A	T	4: 66,184,587 (GRCm39)	L170*	probably null	Het
Bms1	T	C	6: 118,385,105 (GRCm39)	T368A	probably benign	Het
Boll	A	G	1: 55,385,562 (GRCm39)	I121T	probably damaging	Het
Brca1	A	C	11: 101,416,296 (GRCm39)	C613G	probably benign	Het
Cdk14	T	A	5: 5,299,159 (GRCm39)	I65F	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col12a1	A	G	9: 79,613,508 (GRCm39)		probably null	Het
Cplane2	A	C	4: 140,947,348 (GRCm39)	Q243P	probably damaging	Het
Crtac1	T	C	19: 42,297,492 (GRCm39)		probably benign	Het
Dhx40	A	T	11: 86,675,766 (GRCm39)	C507*	probably null	Het
Dok2	A	G	14: 71,015,482 (GRCm39)	D403G	probably damaging	Het
Eif1ad14	T	C	12: 87,886,335 (GRCm39)	D98G	probably benign	Het
Eif2b5	A	G	16: 20,325,154 (GRCm39)	T556A	possibly damaging	Het
Eml6	A	T	11: 29,708,981 (GRCm39)	V1480E	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Glra1	A	G	11: 55,427,225 (GRCm39)	S120P	probably damaging	Het
Habp4	T	C	13: 64,322,656 (GRCm39)	S242P	probably benign	Het
Igkv12-46	A	G	6: 69,741,570 (GRCm39)	I95T	probably damaging	Het
Itch	G	T	2: 155,052,422 (GRCm39)	G674V	probably damaging	Het
Itpr2	A	G	6: 146,327,957 (GRCm39)	L92P	probably damaging	Het
Kcnk2	A	G	1: 188,990,933 (GRCm39)		probably null	Het
Krt75	T	C	15: 101,481,199 (GRCm39)	T192A	probably benign	Het
Lrp1b	T	A	2: 41,159,199 (GRCm39)	K1694N		Het
Lrrc14	A	G	15: 76,598,731 (GRCm39)	K456E	possibly damaging	Het
Map1lc3a	G	T	2: 155,119,129 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,358,741 (GRCm39)	M832L	probably benign	Het
Nectin1	A	G	9: 43,703,798 (GRCm39)	T263A	probably benign	Het
Nnt	A	T	13: 119,511,286 (GRCm39)	M330K	probably damaging	Het
Nrap	T	C	19: 56,308,683 (GRCm39)	N1711D	possibly damaging	Het
Olfm1	A	G	2: 28,119,135 (GRCm39)	N285D	possibly damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or51ab3	T	A	7: 103,201,584 (GRCm39)	S197R	possibly damaging	Het
Or8b8	A	T	9: 37,808,685 (GRCm39)		probably benign	Het
Pag1	A	G	3: 9,764,482 (GRCm39)	Y224H	probably damaging	Het
Pde8a	T	C	7: 80,958,587 (GRCm39)	C322R	possibly damaging	Het
Pde8a	A	T	7: 80,967,118 (GRCm39)	T420S	probably benign	Het
Per2	A	C	1: 91,363,425 (GRCm39)	L365R	possibly damaging	Het
Pml	A	G	9: 58,154,256 (GRCm39)		probably null	Het
Ppp1r1a	T	A	15: 103,446,305 (GRCm39)	M1L	possibly damaging	Het
Ppp3r2	G	T	4: 49,681,913 (GRCm39)	C12*	probably null	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Scyl1	C	T	19: 5,810,620 (GRCm39)	R531Q	possibly damaging	Het
Skp2	C	A	15: 9,139,687 (GRCm39)	V38F	probably damaging	Het
Slc27a3	A	G	3: 90,296,974 (GRCm39)	C42R	probably damaging	Het
Tekt5	A	G	16: 10,213,277 (GRCm39)	F3L	probably benign	Het
Tmem200c	A	G	17: 69,147,513 (GRCm39)	K32R	probably benign	Het
Tmprss11f	T	A	5: 86,676,132 (GRCm39)	R350W	probably damaging	Het
Tph2	A	T	10: 115,015,499 (GRCm39)	I121N	possibly damaging	Het
Trim37	A	G	11: 87,037,794 (GRCm39)	D176G	possibly damaging	Het
Trpc4	A	T	3: 54,102,335 (GRCm39)	I78F	probably damaging	Het
Ttn	T	C	2: 76,609,829 (GRCm39)	K17526E	probably damaging	Het
Tuba8	A	C	6: 121,199,832 (GRCm39)	Y172S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Urb2	A	T	8: 124,754,771 (GRCm39)	R159S	possibly damaging	Het
Usp25	T	A	16: 76,906,063 (GRCm39)	C840S	probably damaging	Het
Vmn1r36	T	A	6: 66,692,964 (GRCm39)	K304*	probably null	Het
Vmn1r37	C	A	6: 66,708,656 (GRCm39)	T94N	probably damaging	Het
Vmn2r7	T	C	3: 64,614,479 (GRCm39)	N445S	probably damaging	Het
Wnk4	G	A	11: 101,164,918 (GRCm39)	G749D	probably benign	Het
Wscd2	G	A	5: 113,689,176 (GRCm39)	V61I	probably benign	Het
Zfp85	T	A	13: 67,897,098 (GRCm39)	R325*	probably null	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
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
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'- GTGCTTGCAGATACACAGAGC -3'
(R):5'- GACTTGTCCAGTCCCAATCC -3'

Sequencing Primer
(F):5'- CAGATACACAGAGCGCGGC -3'
(R):5'- CCTCACAAACTTCTGTACAGTTAG -3'

Posted On

2020-01-23