Incidental Mutation 'R0302:Cyth2'
ID 24848
Institutional Source Beutler Lab
Gene Symbol Cyth2
Ensembl Gene ENSMUSG00000003269
Gene Name cytohesin 2
Synonyms CLM2, ARNO, Pscd2
MMRRC Submission 038514-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R0302 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45456058-45463857 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 45460009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 57 (E57*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056820] [ENSMUST00000107729] [ENSMUST00000209245] [ENSMUST00000210137] [ENSMUST00000210853] [ENSMUST00000210898] [ENSMUST00000211783] [ENSMUST00000211263]
AlphaFold P63034
Predicted Effect probably null
Transcript: ENSMUST00000056820
AA Change: E228*
SMART Domains Protein: ENSMUSP00000051423
Gene: ENSMUSG00000003269
AA Change: E228*

DomainStartEndE-ValueType
Sec7 58 243 1.03e-102 SMART
PH 260 378 3.07e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107728
AA Change: E228*
SMART Domains Protein: ENSMUSP00000103356
Gene: ENSMUSG00000003269
AA Change: E228*

DomainStartEndE-ValueType
Sec7 58 243 1.03e-102 SMART
PH 260 388 3.07e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000107729
AA Change: E228*
SMART Domains Protein: ENSMUSP00000103357
Gene: ENSMUSG00000003269
AA Change: E228*

DomainStartEndE-ValueType
Sec7 58 243 1.03e-102 SMART
PH 260 377 1.16e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000209245
AA Change: E228*
Predicted Effect probably benign
Transcript: ENSMUST00000210137
Predicted Effect probably null
Transcript: ENSMUST00000210853
AA Change: E228*
Predicted Effect probably benign
Transcript: ENSMUST00000210898
Predicted Effect probably null
Transcript: ENSMUST00000211783
AA Change: E212*
Predicted Effect probably benign
Transcript: ENSMUST00000211263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211394
Predicted Effect probably null
Transcript: ENSMUST00000223361
AA Change: E57*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs T C 4: 126,211,185 (GRCm39) E244G probably benign Het
Aldh1l2 G A 10: 83,356,229 (GRCm39) P54S probably damaging Het
Ankdd1a G A 9: 65,416,924 (GRCm39) probably benign Het
Ankra2 T A 13: 98,408,200 (GRCm39) S216R probably damaging Het
Asah2 A T 19: 32,030,356 (GRCm39) N105K probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Cacna1s A G 1: 136,028,342 (GRCm39) Y893C probably benign Het
Capza2 G A 6: 17,648,523 (GRCm39) R15H probably benign Het
Cbfa2t2 T C 2: 154,376,796 (GRCm39) probably benign Het
Ccdc96 A T 5: 36,643,445 (GRCm39) T484S possibly damaging Het
Cckar GCTTAGCCTCTTCT GCT 5: 53,857,641 (GRCm39) probably null Het
Ccl4 T A 11: 83,554,280 (GRCm39) probably benign Het
Cpt1b A G 15: 89,302,073 (GRCm39) Y702H probably benign Het
Cr1l G A 1: 194,800,101 (GRCm39) T153I probably damaging Het
Daxx T A 17: 34,132,594 (GRCm39) S575T probably damaging Het
Depdc5 T C 5: 33,061,890 (GRCm39) probably benign Het
Dnah12 A G 14: 26,521,956 (GRCm39) D1923G probably damaging Het
Dnah7b A G 1: 46,162,937 (GRCm39) T428A probably benign Het
Dnm2 G T 9: 21,411,639 (GRCm39) A619S probably benign Het
Enpp2 T C 15: 54,723,457 (GRCm39) T639A probably benign Het
Epsti1 A T 14: 78,177,366 (GRCm39) H182L probably damaging Het
Exoc3l C T 8: 106,020,175 (GRCm39) R250Q probably benign Het
Ggn G T 7: 28,870,665 (GRCm39) probably null Het
Il1rap A G 16: 26,511,544 (GRCm39) N196S probably benign Het
Ints6 T C 14: 62,946,961 (GRCm39) T335A probably damaging Het
Itga1 G A 13: 115,148,854 (GRCm39) probably benign Het
Kifc3 G T 8: 95,830,098 (GRCm39) Q557K possibly damaging Het
Krt23 A G 11: 99,369,027 (GRCm39) I422T probably benign Het
Lcn2 A G 2: 32,274,901 (GRCm39) probably benign Het
Lonp2 A G 8: 87,364,619 (GRCm39) T326A possibly damaging Het
Lrpprc T C 17: 85,047,506 (GRCm39) I909V possibly damaging Het
Lrrc14 G T 15: 76,598,552 (GRCm39) R396L probably benign Het
Lypd6 T G 2: 50,055,679 (GRCm39) probably benign Het
Man2b1 A G 8: 85,819,645 (GRCm39) N610S probably damaging Het
Map2 A T 1: 66,453,987 (GRCm39) N959I probably benign Het
Mctp2 C T 7: 71,740,012 (GRCm39) V793I possibly damaging Het
Med25 A C 7: 44,529,982 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,616 (GRCm39) Y83C probably damaging Het
Mtbp A T 15: 55,488,820 (GRCm39) M499L probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Nfat5 T C 8: 108,085,333 (GRCm39) I542T probably damaging Het
Nr1h3 A G 2: 91,022,358 (GRCm39) M90T probably damaging Het
Nsmce4a A G 7: 130,147,623 (GRCm39) probably benign Het
Oprl1 G A 2: 181,361,021 (GRCm39) C318Y probably benign Het
Or5d40 T A 2: 88,015,854 (GRCm39) I211N possibly damaging Het
Pbx3 A T 2: 34,114,572 (GRCm39) S46T probably benign Het
Pign A T 1: 105,516,818 (GRCm39) F575I possibly damaging Het
Ptpn13 G T 5: 103,713,091 (GRCm39) S1738I probably benign Het
Rnf126 G T 10: 79,595,057 (GRCm39) P269Q probably damaging Het
Ryr3 G A 2: 112,477,468 (GRCm39) probably benign Het
Slc2a7 C T 4: 150,233,978 (GRCm39) A31V probably damaging Het
Slc6a12 A G 6: 121,340,218 (GRCm39) D487G probably damaging Het
Son G T 16: 91,453,032 (GRCm39) G593V probably damaging Het
Spata31d1a T C 13: 59,850,964 (GRCm39) N388S probably benign Het
Spg11 A T 2: 121,922,668 (GRCm39) M927K possibly damaging Het
Taf13 A G 3: 108,479,038 (GRCm39) M1V probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trio A G 15: 27,902,603 (GRCm39) F286S probably damaging Het
Trpm2 A C 10: 77,779,824 (GRCm39) probably benign Het
Ttc7b T C 12: 100,353,438 (GRCm39) M390V possibly damaging Het
Vmn1r184 A T 7: 25,966,968 (GRCm39) Q238L probably damaging Het
Zfp236 T C 18: 82,676,213 (GRCm39) E368G probably damaging Het
Zfr2 G T 10: 81,087,170 (GRCm39) probably benign Het
Other mutations in Cyth2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCAAAGCCTGAGCGTACACATAGAC -3'
(R):5'- GCCCAGAGATACTGCTTATGCAACC -3'

Sequencing Primer
(F):5'- CCACCAACCAAGGGCTAGAG -3'
(R):5'- TTCCAGTCTACAGGTAGGACCAG -3'
Posted On 2013-04-16