Mutagenetix > Incidental Mutation

Incidental Mutation 'R7532:Cyth2'

583368

Institutional Source

Beutler Lab

Gene Symbol

Cyth2

Ensembl Gene

ENSMUSG00000003269

Gene Name

cytohesin 2

Synonyms

CLM2, ARNO, Pscd2

MMRRC Submission

045604-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R7532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45456058-45463857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45457448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 342 (A342T)

Ref Sequence

ENSEMBL: ENSMUSP00000051423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056820] [ENSMUST00000072580] [ENSMUST00000107729] [ENSMUST00000120005] [ENSMUST00000209245] [ENSMUST00000209617] [ENSMUST00000210137] [ENSMUST00000210853] [ENSMUST00000210898] [ENSMUST00000211263] [ENSMUST00000211783]

AlphaFold

P63034

PDB Structure

Triglycine variant of the ARNO Pleckstrin Homology Domain in complex with Ins(1,3,4,5)P4 [X-RAY DIFFRACTION]
Triglycine variant of the ARNO Pleckstrin Homology Domain in complex with Ins(1,4,5)P3 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000056820
AA Change: A342T

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051423
Gene: ENSMUSG00000003269
AA Change: A342T

Domain	Start	End	E-Value	Type
Sec7	58	243	1.03e-102	SMART
PH	260	378	3.07e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072580

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
Pfam:Pkinase	133	408	8.3e-37	PFAM
Pfam:Pkinase_Tyr	133	408	4.9e-64	PFAM
low complexity region	415	444	N/A	INTRINSIC
low complexity region	484	506	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC
low complexity region	639	669	N/A	INTRINSIC
low complexity region	735	791	N/A	INTRINSIC
low complexity region	797	843	N/A	INTRINSIC
low complexity region	1081	1105	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
low complexity region	1196	1223	N/A	INTRINSIC
low complexity region	1225	1263	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
low complexity region	1384	1393	N/A	INTRINSIC
low complexity region	1407	1421	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107729
AA Change: A341T

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103357
Gene: ENSMUSG00000003269
AA Change: A341T

Domain	Start	End	E-Value	Type
Sec7	58	243	1.03e-102	SMART
PH	260	377	1.16e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120005

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
Pfam:Pkinase	133	408	8.3e-37	PFAM
Pfam:Pkinase_Tyr	133	408	4.9e-64	PFAM
low complexity region	415	444	N/A	INTRINSIC
low complexity region	484	506	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC
low complexity region	639	669	N/A	INTRINSIC
low complexity region	735	791	N/A	INTRINSIC
low complexity region	797	843	N/A	INTRINSIC
low complexity region	1081	1105	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
low complexity region	1196	1223	N/A	INTRINSIC
low complexity region	1225	1263	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
low complexity region	1384	1393	N/A	INTRINSIC
low complexity region	1407	1421	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209245

Predicted Effect

probably benign
Transcript: ENSMUST00000209617

Predicted Effect

silent
Transcript: ENSMUST00000210137

Predicted Effect

probably benign
Transcript: ENSMUST00000210853

Predicted Effect

probably benign
Transcript: ENSMUST00000210898

Predicted Effect

probably benign
Transcript: ENSMUST00000211263

Predicted Effect

probably benign
Transcript: ENSMUST00000211783
AA Change: A325T

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in Schwann cell exhibit reduced sciatic nerve myelin sheath thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,220,589 (GRCm39)	I174K	probably damaging	Het
Ano2	A	T	6: 125,940,667 (GRCm39)	I597F	probably damaging	Het
Ap1g1	T	C	8: 110,586,796 (GRCm39)	V813A	probably damaging	Het
Bpnt1	A	T	1: 185,084,523 (GRCm39)	I207F	possibly damaging	Het
Brinp3	T	A	1: 146,777,139 (GRCm39)	W529R	probably damaging	Het
C2cd2l	C	T	9: 44,226,681 (GRCm39)	R355Q	probably benign	Het
Ccser1	T	A	6: 62,356,915 (GRCm39)	C784*	probably null	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Chd9	A	G	8: 91,721,193 (GRCm39)	I994V	unknown	Het
Cst13	T	G	2: 148,665,127 (GRCm39)	Y41D	probably benign	Het
Dapk1	T	C	13: 60,878,700 (GRCm39)	L563P	probably damaging	Het
Dclk3	T	G	9: 111,296,596 (GRCm39)	S47A	probably benign	Het
Dync1h1	C	A	12: 110,618,011 (GRCm39)	N3183K	probably benign	Het
Enpp1	C	T	10: 24,551,885 (GRCm39)	V165M	probably benign	Het
Ephx3	T	C	17: 32,407,763 (GRCm39)	N173S	possibly damaging	Het
Erc1	T	A	6: 119,756,592 (GRCm39)	D388V	probably benign	Het
Esp34	T	G	17: 38,870,511 (GRCm39)	V135G	possibly damaging	Het
Gfy	G	A	7: 44,827,461 (GRCm39)	P212S	probably damaging	Het
Gm5239	C	T	18: 35,669,795 (GRCm39)	R54C	probably benign	Het
Gtpbp3	T	C	8: 71,942,107 (GRCm39)	F113L	probably benign	Het
Hectd1	T	A	12: 51,837,233 (GRCm39)	D775V	probably damaging	Het
Ifrd2	T	G	9: 107,469,721 (GRCm39)	S431R	probably damaging	Het
Impg2	G	A	16: 56,087,543 (GRCm39)	A1121T	probably damaging	Het
Irx1	A	G	13: 72,108,314 (GRCm39)	F123L	possibly damaging	Het
Itgb6	C	T	2: 60,499,557 (GRCm39)	V79I	probably benign	Het
Kcnd3	G	A	3: 105,575,526 (GRCm39)	R550H	probably damaging	Het
Klhl9	A	T	4: 88,639,090 (GRCm39)	S384T	possibly damaging	Het
Kng2	T	C	16: 22,845,794 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,560,464 (GRCm39)	N67S	possibly damaging	Het
Mgst1	T	C	6: 138,130,504 (GRCm39)	S78P	probably benign	Het
Ms4a14	A	G	19: 11,281,323 (GRCm39)	Y412H	possibly damaging	Het
Mucl2	A	C	15: 103,926,318 (GRCm39)	I124S	unknown	Het
Myh3	A	G	11: 66,981,921 (GRCm39)	M806V	probably benign	Het
Nelfcd	T	C	2: 174,268,189 (GRCm39)	L501P	probably damaging	Het
Nlrp6	C	A	7: 140,505,097 (GRCm39)	P748Q	probably benign	Het
Or1j13	C	T	2: 36,370,138 (GRCm39)	M1I	probably null	Het
Or6n2	T	C	1: 173,897,664 (GRCm39)	S267P	probably benign	Het
Plxna2	G	A	1: 194,327,127 (GRCm39)	A354T	probably benign	Het
Prpf39	G	T	12: 65,100,145 (GRCm39)	V273L	probably benign	Het
Rad9a	T	C	19: 4,251,522 (GRCm39)		probably benign	Het
Rnf135	A	G	11: 80,089,732 (GRCm39)	D356G	probably benign	Het
Rragd	G	T	4: 33,004,166 (GRCm39)	A153S	possibly damaging	Het
Selenot	G	T	3: 58,492,653 (GRCm39)	V47L	probably benign	Het
Smc2	T	C	4: 52,451,013 (GRCm39)	L277P	probably damaging	Het
Sp7	A	G	15: 102,267,584 (GRCm39)	F92S	possibly damaging	Het
Spata1	A	T	3: 146,173,946 (GRCm39)	I380N	possibly damaging	Het
Spdye4b	G	T	5: 143,180,652 (GRCm39)	R39S	possibly damaging	Het
Spmip9	T	C	6: 70,890,621 (GRCm39)	K57R	probably benign	Het
Stom	C	A	2: 35,211,589 (GRCm39)	R144L	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,486 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,249,565 (GRCm39)	T998A	probably benign	Het
Vcl	C	A	14: 21,079,392 (GRCm39)	A965D	probably damaging	Het
Vmn1r69	A	T	7: 10,314,281 (GRCm39)	V150D	probably damaging	Het
Vmn1r90	T	G	7: 14,295,189 (GRCm39)	N303T	possibly damaging	Het
Vmn2r69	A	T	7: 85,059,622 (GRCm39)	M429K	probably benign	Het
Vmn2r8	T	A	5: 108,950,106 (GRCm39)	Y247F	probably benign	Het
Washc5	A	T	15: 59,239,260 (GRCm39)	S168T	possibly damaging	Het

Other mutations in Cyth2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Cyth2	APN	7	45,457,813 (GRCm39)	missense	probably damaging	1.00
IGL01957:Cyth2	APN	7	45,457,805 (GRCm39)	missense	probably benign	0.00
FR4737:Cyth2	UTSW	7	45,462,466 (GRCm39)	missense	possibly damaging	0.90
R0302:Cyth2	UTSW	7	45,460,009 (GRCm39)	nonsense	probably null
R0600:Cyth2	UTSW	7	45,462,541 (GRCm39)	missense	probably damaging	1.00
R4664:Cyth2	UTSW	7	45,460,143 (GRCm39)	missense	probably damaging	1.00
R5102:Cyth2	UTSW	7	45,460,126 (GRCm39)	missense	probably damaging	1.00
R7846:Cyth2	UTSW	7	45,460,378 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyth2	UTSW	7	45,462,529 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ATAGAAGGGGTCCACACTTACAG -3'
(R):5'- CTAGAGAACCTGAGCATCCG -3'

Sequencing Primer
(F):5'- GGTCCACACTTACAGCAGCC -3'
(R):5'- GGGAGGTGGACGATCCTC -3'

Posted On

2019-10-17