Incidental Mutation 'R8497:Cyth3'
ID 658315
Institutional Source Beutler Lab
Gene Symbol Cyth3
Ensembl Gene ENSMUSG00000018001
Gene Name cytohesin 3
Synonyms Pscd3, Grp1, cytohesin 3
MMRRC Submission 067939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R8497 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 143608202-143696005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 143678328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 44 (D44A)
Ref Sequence ENSEMBL: ENSMUSP00000118290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110727] [ENSMUST00000116456] [ENSMUST00000131436] [ENSMUST00000177281]
AlphaFold O08967
Predicted Effect probably benign
Transcript: ENSMUST00000110727
AA Change: D44A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001
AA Change: D44A

DomainStartEndE-ValueType
Sec7 15 200 1.5e-106 SMART
PH 217 334 1.1e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116456
AA Change: D92A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
AA Change: D92A

DomainStartEndE-ValueType
low complexity region 3 10 N/A INTRINSIC
low complexity region 14 35 N/A INTRINSIC
Sec7 63 248 3.21e-104 SMART
PH 265 382 2.36e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131436
AA Change: D44A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118290
Gene: ENSMUSG00000018001
AA Change: D44A

DomainStartEndE-ValueType
Pfam:Sec7 13 70 5.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177281
SMART Domains Protein: ENSMUSP00000135287
Gene: ENSMUSG00000018001

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
Blast:Sec7 45 91 1e-11 BLAST
PDB:1S9D|E 63 93 4e-8 PDB
SCOP:d1pbv__ 65 93 7e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members 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. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,923,250 (GRCm39) H509Y probably benign Het
Afm A T 5: 90,699,202 (GRCm39) probably null Het
Apc G A 18: 34,446,083 (GRCm39) C975Y possibly damaging Het
Ash1l G T 3: 88,914,951 (GRCm39) M1860I probably benign Het
Bdkrb1 C T 12: 105,570,463 (GRCm39) Q10* probably null Het
Bphl A G 13: 34,221,706 (GRCm39) K21E possibly damaging Het
Cadps2 T C 6: 23,355,918 (GRCm39) N837D probably benign Het
Cat C G 2: 103,287,221 (GRCm39) A470P probably damaging Het
Cdc34 G T 10: 79,520,845 (GRCm39) D11Y probably damaging Het
Cep290 A G 10: 100,387,320 (GRCm39) E1936G probably damaging Het
Cnot6 A T 11: 49,566,191 (GRCm39) N501K possibly damaging Het
Dchs1 C T 7: 105,408,168 (GRCm39) G1888D probably damaging Het
Ffar1 T G 7: 30,560,334 (GRCm39) I188L probably benign Het
Fhip1b G T 7: 105,030,396 (GRCm39) D820E probably damaging Het
Gpr17 A G 18: 32,080,173 (GRCm39) Y297H probably damaging Het
H2-M10.5 A C 17: 37,084,729 (GRCm39) E151A probably damaging Het
Hmcn1 C T 1: 150,455,990 (GRCm39) R5310K probably benign Het
Hmcn2 T C 2: 31,313,357 (GRCm39) L3522P possibly damaging Het
Hs2st1 T G 3: 144,140,452 (GRCm39) T290P probably damaging Het
Il5ra G A 6: 106,715,066 (GRCm39) L231F probably benign Het
Itgav T A 2: 83,615,805 (GRCm39) C529S probably damaging Het
Itprid1 A T 6: 55,875,179 (GRCm39) R376S probably benign Het
Lrrcc1 A G 3: 14,605,044 (GRCm39) D138G possibly damaging Het
Mat1a C T 14: 40,843,851 (GRCm39) R357W probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtss2 T C 8: 111,465,222 (GRCm39) V492A possibly damaging Het
Nalcn A G 14: 123,752,771 (GRCm39) V330A probably damaging Het
Neu3 A T 7: 99,472,342 (GRCm39) probably null Het
Nfx1 A G 4: 40,976,968 (GRCm39) D214G possibly damaging Het
Or2a14 T C 6: 43,130,818 (GRCm39) L193P probably damaging Het
Or2y17 G A 11: 49,231,721 (GRCm39) D121N probably damaging Het
Or4f14 T A 2: 111,742,964 (GRCm39) I104F possibly damaging Het
Or5b104 T C 19: 13,072,707 (GRCm39) T102A probably benign Het
Pcdhb14 A T 18: 37,582,349 (GRCm39) H485L probably benign Het
Pdss2 A C 10: 43,289,521 (GRCm39) K342T possibly damaging Het
Ppargc1a A G 5: 51,647,570 (GRCm39) S254P probably damaging Het
Prelid1 A G 13: 55,470,833 (GRCm39) D87G probably damaging Het
Prkg1 C A 19: 31,279,709 (GRCm39) C190F probably damaging Het
Psmb5 A G 14: 54,851,837 (GRCm39) S116P possibly damaging Het
Rassf6 A G 5: 90,779,391 (GRCm39) V14A possibly damaging Het
Ripk1 T C 13: 34,211,934 (GRCm39) S415P probably damaging Het
Rnft1 A T 11: 86,386,132 (GRCm39) K344* probably null Het
Sacs G A 14: 61,429,702 (GRCm39) R587Q probably benign Het
Skp2 A T 15: 9,127,971 (GRCm39) probably null Het
Spata31d1a T C 13: 59,848,988 (GRCm39) K1047E possibly damaging Het
Spopfm2 T A 3: 94,083,119 (GRCm39) I231F possibly damaging Het
Szt2 G A 4: 118,245,518 (GRCm39) T1098I possibly damaging Het
Tcf20 A G 15: 82,740,152 (GRCm39) M433T probably benign Het
Tsen54 T C 11: 115,713,410 (GRCm39) F438L probably damaging Het
Utp23 C T 15: 51,745,614 (GRCm39) T144I probably damaging Het
Vmn2r105 T C 17: 20,455,134 (GRCm39) M1V probably null Het
Wdfy4 C T 14: 32,688,356 (GRCm39) V2926M probably damaging Het
Zfp407 T C 18: 84,578,021 (GRCm39) K1031E probably damaging Het
Other mutations in Cyth3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Cyth3 APN 5 143,692,920 (GRCm39) splice site probably null
IGL01340:Cyth3 APN 5 143,670,190 (GRCm39) nonsense probably null
IGL01372:Cyth3 APN 5 143,678,393 (GRCm39) missense possibly damaging 0.93
IGL02092:Cyth3 APN 5 143,693,140 (GRCm39) splice site probably benign
IGL02850:Cyth3 APN 5 143,672,259 (GRCm39) missense probably damaging 0.97
IGL02892:Cyth3 APN 5 143,693,192 (GRCm39) missense possibly damaging 0.86
R0373:Cyth3 UTSW 5 143,670,181 (GRCm39) utr 5 prime probably benign
R0726:Cyth3 UTSW 5 143,678,397 (GRCm39) missense probably benign 0.00
R1217:Cyth3 UTSW 5 143,688,575 (GRCm39) missense probably damaging 1.00
R1552:Cyth3 UTSW 5 143,683,505 (GRCm39) missense probably benign 0.12
R1623:Cyth3 UTSW 5 143,687,127 (GRCm39) missense probably damaging 1.00
R1873:Cyth3 UTSW 5 143,683,516 (GRCm39) missense possibly damaging 0.54
R3788:Cyth3 UTSW 5 143,622,298 (GRCm39) intron probably benign
R4736:Cyth3 UTSW 5 143,670,234 (GRCm39) critical splice donor site probably null
R6500:Cyth3 UTSW 5 143,693,595 (GRCm39) missense probably damaging 0.97
R6824:Cyth3 UTSW 5 143,672,265 (GRCm39) missense probably damaging 1.00
R7105:Cyth3 UTSW 5 143,693,027 (GRCm39) missense probably benign 0.07
R7143:Cyth3 UTSW 5 143,670,151 (GRCm39) missense unknown
R7767:Cyth3 UTSW 5 143,693,229 (GRCm39) missense probably damaging 1.00
R7839:Cyth3 UTSW 5 143,683,509 (GRCm39) missense probably benign 0.01
R8220:Cyth3 UTSW 5 143,687,344 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CAAACAGAGTGGCTCCTTCTCG -3'
(R):5'- TGCCGTATGATCCCAAATGC -3'

Sequencing Primer
(F):5'- TCCTTCTCGAGTGGATGAAACCAG -3'
(R):5'- TATGATCCCAAATGCCCGGGTG -3'
Posted On 2021-01-18