Incidental Mutation 'R7767:Cyth3'
ID 598287
Institutional Source Beutler Lab
Gene Symbol Cyth3
Ensembl Gene ENSMUSG00000018001
Gene Name cytohesin 3
Synonyms Pscd3, Grp1, cytohesin 3
MMRRC Submission 045823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R7767 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 143608202-143696005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 143693229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 351 (V351G)
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 damaging
Transcript: ENSMUST00000110727
AA Change: V303G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106355
Gene: ENSMUSG00000018001
AA Change: V303G

DomainStartEndE-ValueType
Sec7 15 200 1.5e-106 SMART
PH 217 334 1.1e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116456
AA Change: V351G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
AA Change: V351G

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: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C A 1: 58,274,366 (GRCm39) S384Y probably damaging Het
Arhgef15 T C 11: 68,844,673 (GRCm39) E308G probably damaging Het
Asb15 A G 6: 24,559,281 (GRCm39) D142G probably benign Het
Atg13 A G 2: 91,509,711 (GRCm39) S394P probably damaging Het
Atp10a G C 7: 58,308,597 (GRCm39) W132S probably damaging Het
Bltp1 G T 3: 36,974,436 (GRCm39) probably null Het
Bod1l T A 5: 41,974,099 (GRCm39) N2405I probably benign Het
Capsl C T 15: 9,462,770 (GRCm39) R137C probably damaging Het
Cd109 T A 9: 78,617,441 (GRCm39) M1313K probably damaging Het
Chst13 G A 6: 90,286,566 (GRCm39) A132V possibly damaging Het
Cobl T C 11: 12,362,117 (GRCm39) probably benign Het
Coq9 A T 8: 95,577,214 (GRCm39) E193V probably benign Het
Cpd T A 11: 76,704,385 (GRCm39) I410F probably benign Het
Dcdc2c T C 12: 28,520,256 (GRCm39) K607E Het
Dcp1a T C 14: 30,201,775 (GRCm39) probably null Het
Dennd3 A G 15: 73,394,079 (GRCm39) I35V probably benign Het
Dlgap4 C T 2: 156,587,973 (GRCm39) R606W probably damaging Het
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Erbin A G 13: 103,995,907 (GRCm39) L265P probably damaging Het
Ern1 T C 11: 106,291,134 (GRCm39) D847G probably damaging Het
Esyt3 T G 9: 99,207,024 (GRCm39) S342R probably benign Het
Exoc2 A T 13: 31,060,752 (GRCm39) I584K probably benign Het
Fam240a T C 9: 110,744,090 (GRCm39) R50G probably damaging Het
Glis3 A T 19: 28,241,360 (GRCm39) M858K probably benign Het
Gls2 C T 10: 128,030,998 (GRCm39) R86C unknown Het
Gm10972 C A 3: 94,550,901 (GRCm39) Y25* probably null Het
H2-T10 A T 17: 36,428,622 (GRCm39) M350K probably benign Het
Has1 A T 17: 18,070,792 (GRCm39) V43D probably damaging Het
Herc2 T A 7: 55,878,275 (GRCm39) S4609R probably benign Het
Hmgcs2 A C 3: 98,198,582 (GRCm39) T162P probably damaging Het
Hspg2 G T 4: 137,239,177 (GRCm39) C368F probably damaging Het
Ighv11-1 A G 12: 113,945,722 (GRCm39) S44P probably damaging Het
Inppl1 A G 7: 101,473,545 (GRCm39) V1035A probably benign Het
Kmt2a C T 9: 44,730,295 (GRCm39) V3341I unknown Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrriq1 G C 10: 103,051,815 (GRCm39) S312R probably damaging Het
Map1a G A 2: 121,132,517 (GRCm39) S1111N probably damaging Het
Myo15a T C 11: 60,392,922 (GRCm39) V1029A Het
Nol11 T C 11: 107,069,908 (GRCm39) H314R possibly damaging Het
Nphs1 A T 7: 30,162,733 (GRCm39) D404V probably damaging Het
Odr4 A G 1: 150,247,788 (GRCm39) V387A probably benign Het
Or51r1 A T 7: 102,220,971 (GRCm39) probably benign Het
Pabpc2 T C 18: 39,907,607 (GRCm39) Y291H possibly damaging Het
Pcdh15 G A 10: 74,322,088 (GRCm39) A1020T probably benign Het
Pla2g4f A C 2: 120,135,490 (GRCm39) S395A possibly damaging Het
Ppp1r18 A G 17: 36,178,176 (GRCm39) Q17R probably damaging Het
Prokr2 A T 2: 132,215,996 (GRCm39) V155D probably damaging Het
Pwwp2a T G 11: 43,596,696 (GRCm39) C620W probably damaging Het
Rabepk T C 2: 34,675,605 (GRCm39) D175G probably damaging Het
Rad54l T C 4: 115,956,866 (GRCm39) Y485C probably damaging Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rgma C A 7: 73,067,752 (GRCm39) L446I unknown Het
Rnf212b T C 14: 55,079,825 (GRCm39) S182P probably damaging Het
Rnf6 C A 5: 146,147,986 (GRCm39) R344I probably damaging Het
Rnf6 T A 5: 146,147,987 (GRCm39) R344* probably null Het
Sgo1 A G 17: 53,986,639 (GRCm39) I184T possibly damaging Het
Sgpl1 A T 10: 60,953,502 (GRCm39) I78N possibly damaging Het
Snx13 T A 12: 35,157,483 (GRCm39) Y510N probably damaging Het
Sptbn2 G A 19: 4,784,171 (GRCm39) E638K possibly damaging Het
Sspo A G 6: 48,428,316 (GRCm39) T349A probably damaging Het
Sv2c C T 13: 96,126,223 (GRCm39) S343N probably damaging Het
Syne1 C A 10: 5,283,560 (GRCm39) V1502F possibly damaging Het
Syne1 T A 10: 5,283,632 (GRCm39) I1478F possibly damaging Het
Tmem121 C T 12: 113,151,992 (GRCm39) A70V probably damaging Het
Tmem215 A G 4: 40,474,042 (GRCm39) I40V possibly damaging Het
Trim25 A G 11: 88,899,943 (GRCm39) probably null Het
Trio A G 15: 27,889,504 (GRCm39) V534A unknown Het
Tyr T A 7: 87,142,218 (GRCm39) E114V probably benign Het
Ush2a A T 1: 188,285,457 (GRCm39) T1998S probably benign Het
Usp40 G T 1: 87,909,900 (GRCm39) A518E probably benign Het
Usp48 T A 4: 137,331,956 (GRCm39) probably null Het
Vash1 T A 12: 86,733,767 (GRCm39) F152L probably damaging Het
Vsig10l C A 7: 43,113,141 (GRCm39) P31Q probably damaging Het
Xab2 C T 8: 3,669,018 (GRCm39) E43K probably benign Het
Zfp423 G A 8: 88,507,512 (GRCm39) S944F probably damaging Het
Zp2 A T 7: 119,736,392 (GRCm39) D350E probably benign Het
Zscan4e T G 7: 11,041,461 (GRCm39) Q165P 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
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'- TGGAGAACCTCAGCATCAGG -3'
(R):5'- TCCAACATGCATACACGTGC -3'

Sequencing Primer
(F):5'- ACCTCAGCATCAGGGAGGTG -3'
(R):5'- GACATGCAAACACGTGTCC -3'
Posted On 2019-11-26