Incidental Mutation 'R7105:Cyth3'
ID 551101
Institutional Source Beutler Lab
Gene Symbol Cyth3
Ensembl Gene ENSMUSG00000018001
Gene Name cytohesin 3
Synonyms Pscd3, Grp1, cytohesin 3
MMRRC Submission 045197-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R7105 (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 G at 143693027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 312 (N312D)
Ref Sequence ENSEMBL: ENSMUSP00000112157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053287] [ENSMUST00000110727] [ENSMUST00000116456]
AlphaFold O08967
PDB Structure GRP1 PH DOMAIN WITH INS(1,3,4,5)P4 [X-RAY DIFFRACTION]
GRP1 PH DOMAIN (UNLIGANDED) [X-RAY DIFFRACTION]
Structure of the pleckstrin homology domain from GRP1 in complex with inositol(1,3,4,5,6)pentakisphosphate [X-RAY DIFFRACTION]
Structure of the pleckstrin homology domain from GRP1 in complex with inositol 1,3,4,5-tetrakisphosphate [X-RAY DIFFRACTION]
Triglycine variant of the Grp1 Pleckstrin Homology Domain unliganded [X-RAY DIFFRACTION]
Crystal Structure of Autoinhibited Form of Grp1 Arf GTPase Exchange Factor [X-RAY DIFFRACTION]
Crystal Structure of Autoinhibited Form of Grp1 Arf GTPase Exchange Factor [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000053287
SMART Domains Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306

DomainStartEndE-ValueType
low complexity region 65 77 N/A INTRINSIC
Pfam:UCH 109 408 1.4e-46 PFAM
Pfam:UCH_1 110 391 1.4e-18 PFAM
low complexity region 470 490 N/A INTRINSIC
low complexity region 567 579 N/A INTRINSIC
low complexity region 604 613 N/A INTRINSIC
low complexity region 634 645 N/A INTRINSIC
low complexity region 954 962 N/A INTRINSIC
low complexity region 1016 1031 N/A INTRINSIC
low complexity region 1201 1219 N/A INTRINSIC
low complexity region 1239 1255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110727
AA Change: N264D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001
AA Change: N264D

DomainStartEndE-ValueType
Sec7 15 200 1.5e-106 SMART
PH 217 334 1.1e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116456
AA Change: N312D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
AA Change: N312D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (65/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,347,842 (GRCm39) I3565N probably damaging Het
Adam8 T C 7: 139,569,968 (GRCm39) E99G probably benign Het
Adnp2 A C 18: 80,171,366 (GRCm39) H1014Q possibly damaging Het
Agbl4 T A 4: 111,423,920 (GRCm39) N315K probably benign Het
Ankrd33b G T 15: 31,305,214 (GRCm39) N183K probably damaging Het
Arhgef39 A G 4: 43,498,913 (GRCm39) S113P possibly damaging Het
Bdp1 G A 13: 100,206,689 (GRCm39) P618S probably damaging Het
Bhlhe40 C T 6: 108,641,997 (GRCm39) P314S possibly damaging Het
Birc2 A C 9: 7,819,442 (GRCm39) I490S probably damaging Het
Blm T C 7: 80,149,516 (GRCm39) I698V probably benign Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
Car12 A G 9: 66,659,688 (GRCm39) T238A probably damaging Het
Cend1 G A 7: 141,007,565 (GRCm39) P85L probably benign Het
Cftr A T 6: 18,318,971 (GRCm39) D1337V probably damaging Het
Chsy3 T A 18: 59,309,491 (GRCm39) M248K probably damaging Het
Chtf8 A G 8: 107,611,883 (GRCm39) F352S probably damaging Het
Cimip4 T A 15: 78,270,318 (GRCm39) D150V possibly damaging Het
Csf2ra T C 19: 61,213,458 (GRCm39) D384G possibly damaging Het
Ctnnbip1 T C 4: 149,630,937 (GRCm39) S59P probably benign Het
Dtnb T C 12: 3,698,391 (GRCm39) probably null Het
Duox2 A G 2: 122,120,033 (GRCm39) S826P possibly damaging Het
Enthd1 C T 15: 80,393,410 (GRCm39) A273T probably benign Het
Gm3138 T C 14: 15,632,304 (GRCm39) V159A possibly damaging Het
Hhip T C 8: 80,701,638 (GRCm39) D632G probably benign Het
Igfn1 A T 1: 135,911,956 (GRCm39) C114S probably benign Het
Islr2 T C 9: 58,105,097 (GRCm39) D765G probably damaging Het
Klf14 TCCCC TCCC 6: 30,935,476 (GRCm39) probably null Het
Mapk12 G A 15: 89,015,361 (GRCm39) P362L probably benign Het
Msi1 T G 5: 115,571,929 (GRCm39) F96V probably damaging Het
Mthfd1l T C 10: 4,053,261 (GRCm39) V870A probably benign Het
Nfat5 T C 8: 108,095,823 (GRCm39) S1355P possibly damaging Het
Oplah T C 15: 76,181,887 (GRCm39) N1079D probably damaging Het
Or2ah1 G T 2: 85,654,224 (GRCm39) R303M probably benign Het
Osbpl1a T A 18: 12,900,020 (GRCm39) I645F probably benign Het
Pank4 T C 4: 155,064,624 (GRCm39) S728P probably benign Het
Parp2 TTGCCATAAGTGCTAAATGAAGCC T 14: 51,047,521 (GRCm39) probably null Het
Piezo1 A G 8: 123,208,857 (GRCm39) I2503T unknown Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhs1 T A 19: 56,465,647 (GRCm39) F204Y probably damaging Het
Pramel26 T C 4: 143,537,341 (GRCm39) N330S probably benign Het
Pramel32 G A 4: 88,548,339 (GRCm39) S22F probably damaging Het
Prep T A 10: 45,002,159 (GRCm39) I438N probably benign Het
Prss58 T C 6: 40,874,700 (GRCm39) H47R probably damaging Het
Rad51ap2 T G 12: 11,508,278 (GRCm39) D733E possibly damaging Het
Robo1 A T 16: 72,539,049 (GRCm39) I31F probably damaging Het
Setd2 A G 9: 110,377,328 (GRCm39) Y381C probably damaging Het
Slc47a2 A G 11: 61,233,269 (GRCm39) V87A probably benign Het
Slc5a9 T C 4: 111,755,892 (GRCm39) N2S probably benign Het
Spata13 A G 14: 60,991,319 (GRCm39) D1024G probably damaging Het
Stat1 T G 1: 52,190,408 (GRCm39) N554K probably benign Het
Suclg2 T C 6: 95,572,635 (GRCm39) D110G possibly damaging Het
Sult1c2 T A 17: 54,280,917 (GRCm39) probably null Het
Taf5l A G 8: 124,729,951 (GRCm39) I246T probably damaging Het
Tcof1 A T 18: 60,976,368 (GRCm39) D80E probably damaging Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Tshz3 A G 7: 36,469,181 (GRCm39) E390G probably damaging Het
Ttn T C 2: 76,560,610 (GRCm39) T29264A possibly damaging Het
Ubr5 T C 15: 38,009,019 (GRCm39) T1065A Het
Vcp A G 4: 42,985,991 (GRCm39) V341A probably damaging Het
Vmn1r176 A T 7: 23,534,748 (GRCm39) L135* probably null Het
Vmn1r57 T A 7: 5,223,499 (GRCm39) I8N probably damaging Het
Ythdc2 C T 18: 44,967,630 (GRCm39) P209S probably damaging Het
Zfp213 A T 17: 23,777,178 (GRCm39) V288D probably benign Het
Zfp362 T C 4: 128,668,319 (GRCm39) I418V probably damaging Het
Zfp707 C A 15: 75,846,595 (GRCm39) T215K Het
Zfp957 G C 14: 79,450,402 (GRCm39) R466G probably benign 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
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
R8497:Cyth3 UTSW 5 143,678,328 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCGTGTGAAGACCTGGAAACG -3'
(R):5'- TACACAACGTGGTTGCCCTC -3'

Sequencing Primer
(F):5'- AAACGGCGCTGGTTCATC -3'
(R):5'- CGTCTTGCAGGCCTTGATGAC -3'
Posted On 2019-05-15