Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Cyth2'

392421

Institutional Source

Beutler Lab

Gene Symbol

Cyth2

Ensembl Gene

ENSMUSG00000003269

Gene Name

cytohesin 2

Synonyms

CLM2, ARNO, Pscd2

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45456058-45463857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45460126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 173 (S173P)

Ref Sequence

ENSEMBL: ENSMUSP00000147706 (fasta)

Gene Model

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

AlphaFold

P63034

Predicted Effect

probably damaging
Transcript: ENSMUST00000056820
AA Change: S189P

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

SMART Domains

Protein: ENSMUSP00000051423
Gene: ENSMUSG00000003269
AA Change: S189P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107726
AA Change: S173P

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

SMART Domains

Protein: ENSMUSP00000103354
Gene: ENSMUSG00000003269
AA Change: S173P

Domain	Start	End	E-Value	Type
Sec7	42	227	1.03e-102	SMART
PH	244	361	1.16e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107728
AA Change: S189P

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

SMART Domains

Protein: ENSMUSP00000103356
Gene: ENSMUSG00000003269
AA Change: S189P

Domain	Start	End	E-Value	Type
Sec7	58	243	1.03e-102	SMART
PH	260	388	3.07e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107729
AA Change: S189P

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

SMART Domains

Protein: ENSMUSP00000103357
Gene: ENSMUSG00000003269
AA Change: S189P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129313
AA Change: V231A

Predicted Effect

probably damaging
Transcript: ENSMUST00000139376
AA Change: S189P

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

SMART Domains

Protein: ENSMUSP00000119068
Gene: ENSMUSG00000003269
AA Change: S189P

Domain	Start	End	E-Value	Type
Sec7	58	243	1.03e-102	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209245
AA Change: S189P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210853
AA Change: S189P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211783
AA Change: S173P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211263

Predicted Effect

probably benign
Transcript: ENSMUST00000210137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211394

Predicted Effect

probably benign
Transcript: ENSMUST00000210898

Predicted Effect

unknown
Transcript: ENSMUST00000223361
AA Change: S18P

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	T	1: 58,279,937 (GRCm39)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,469,592 (GRCm39)		probably null	Het
Arhgap45	C	T	10: 79,857,262 (GRCm39)	P254S	probably benign	Het
Arl4c	T	C	1: 88,629,322 (GRCm39)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,242,875 (GRCm39)	T1142A	probably benign	Het
BC035044	T	C	6: 128,861,949 (GRCm39)		probably benign	Het
Bmp4	T	C	14: 46,621,458 (GRCm39)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,537,912 (GRCm39)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,971 (GRCm39)	T401S	probably benign	Het
Cmklr2	A	G	1: 63,222,326 (GRCm39)	V303A	probably damaging	Het
Cps1	A	T	1: 67,245,952 (GRCm39)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,873,832 (GRCm39)	D1092G	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,793 (GRCm39)	I319F	unknown	Het
Dchs1	A	T	7: 105,421,384 (GRCm39)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,476,640 (GRCm39)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm39)	D109N	possibly damaging	Het
Dner	A	T	1: 84,383,691 (GRCm39)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,186,282 (GRCm39)	S97P	probably benign	Het
Fam53b	G	A	7: 132,317,684 (GRCm39)	R60*	probably null	Het
Fmo3	T	G	1: 162,791,546 (GRCm39)	K244Q	probably benign	Het
Golim4	A	G	3: 75,810,579 (GRCm39)	I192T	possibly damaging	Het
Gprin1	T	C	13: 54,887,576 (GRCm39)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,310,626 (GRCm39)	V443D	probably damaging	Het
Hmgcs2	T	C	3: 98,187,786 (GRCm39)		probably benign	Het
Ide	T	A	19: 37,292,383 (GRCm39)	I271L	unknown	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif14	A	G	1: 136,444,141 (GRCm39)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Lhx6	T	C	2: 35,984,222 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,319,502 (GRCm39)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,709,304 (GRCm39)	K142R	probably damaging	Het
Macroh2a1	C	G	13: 56,243,936 (GRCm39)		probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Mtrfr	A	G	5: 124,476,954 (GRCm39)	N83D	probably damaging	Het
Nacad	T	A	11: 6,548,528 (GRCm39)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,535,539 (GRCm39)	I275T	possibly damaging	Het
Neb	A	C	2: 52,116,582 (GRCm39)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,712,934 (GRCm39)	A83V	probably damaging	Het
Nos3	A	G	5: 24,576,625 (GRCm39)	D418G	probably damaging	Het
Or12e7	A	T	2: 87,288,138 (GRCm39)	M210L	probably benign	Het
Or1n1b	T	A	2: 36,780,056 (GRCm39)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,604,313 (GRCm39)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,701,220 (GRCm39)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,637,771 (GRCm39)	I191T	possibly damaging	Het
Pramel18	T	C	4: 101,766,436 (GRCm39)	F40S	probably damaging	Het
Rab11fip1	T	C	8: 27,646,402 (GRCm39)	K225E	probably damaging	Het
Rara	A	T	11: 98,857,185 (GRCm39)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,126,754 (GRCm39)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,070,408 (GRCm39)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,393,482 (GRCm39)	T106A	probably damaging	Het
Srcap	G	A	7: 127,129,795 (GRCm39)	G539D	probably damaging	Het
Stab1	C	T	14: 30,869,974 (GRCm39)		probably null	Het
Zfp267	G	A	3: 36,216,814 (GRCm39)	C55Y	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
R7532:Cyth2	UTSW	7	45,457,448 (GRCm39)	missense	probably benign	0.20
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'- AGCCTGAGCGTACACATAGAC -3'
(R):5'- GGTCTTCCAGTCTACAGGTAGG -3'

Sequencing Primer
(F):5'- CCAACCAAGGGCTAGAGCAG -3'
(R):5'- TCTTCCAGTCTACAGGTAGGACCAG -3'

Posted On

2016-06-15