Incidental Mutation 'R8110:Psd3'
ID 630810
Institutional Source Beutler Lab
Gene Symbol Psd3
Ensembl Gene ENSMUSG00000030465
Gene Name pleckstrin and Sec7 domain containing 3
Synonyms EFA6D, 4931420C21Rik
MMRRC Submission 067539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R8110 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 68141734-68664679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68573708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 158 (S158C)
Ref Sequence ENSEMBL: ENSMUSP00000148783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178529] [ENSMUST00000212960]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000178529
AA Change: S158C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137221
Gene: ENSMUSG00000095306
AA Change: S158C

DomainStartEndE-ValueType
low complexity region 18 44 N/A INTRINSIC
low complexity region 72 89 N/A INTRINSIC
low complexity region 100 108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178529
AA Change: S158C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212960
AA Change: S158C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 93.1%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd45 T C 1: 160,978,889 (GRCm39) probably null Het
Appl1 C A 14: 26,649,751 (GRCm39) G592* probably null Het
Arfgef2 T A 2: 166,720,464 (GRCm39) M1501K probably benign Het
Calcrl C T 2: 84,169,683 (GRCm39) A333T probably damaging Het
Cd200r3 T A 16: 44,771,835 (GRCm39) I33N probably benign Het
Ceacam15 A G 7: 16,407,334 (GRCm39) L61P probably benign Het
Cfap69 T A 5: 5,632,515 (GRCm39) H827L possibly damaging Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Cyp2u1 G A 3: 131,087,303 (GRCm39) T426I probably damaging Het
Eefsec A C 6: 88,353,312 (GRCm39) I119S probably damaging Het
Fem1b T C 9: 62,703,550 (GRCm39) N570S probably damaging Het
Fmo9 A G 1: 166,491,095 (GRCm39) M461T probably benign Het
Fryl A G 5: 73,290,620 (GRCm39) Y95H probably benign Het
Fsip2 T C 2: 82,789,017 (GRCm39) I346T probably benign Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gabbr1 G C 17: 37,359,475 (GRCm39) S150T probably benign Het
Galnt9 G T 5: 110,763,339 (GRCm39) W448L probably damaging Het
Gcnt2 G T 13: 41,071,198 (GRCm39) probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Hectd4 A G 5: 121,471,012 (GRCm39) Y2633C possibly damaging Het
Hsd11b2 A G 8: 106,249,266 (GRCm39) I214V probably damaging Het
Hspa12a T A 19: 58,809,445 (GRCm39) E217V possibly damaging Het
Itih2 A G 2: 10,101,948 (GRCm39) F845L probably damaging Het
Kcnn3 T A 3: 89,568,540 (GRCm39) L606H probably damaging Het
Krt6b G A 15: 101,588,577 (GRCm39) R28C probably damaging Het
Lama2 T A 10: 26,866,866 (GRCm39) D2876V probably damaging Het
Lmbrd2 T C 15: 9,175,279 (GRCm39) S397P probably damaging Het
Lmf2 C T 15: 89,236,561 (GRCm39) probably null Het
Lrp2 A G 2: 69,336,797 (GRCm39) I1325T probably benign Het
Ltbp2 A T 12: 84,850,676 (GRCm39) C879* probably null Het
Map3k1 A G 13: 111,891,847 (GRCm39) V1136A probably damaging Het
Mettl3 G T 14: 52,537,709 (GRCm39) H84N probably benign Het
Mia2 A G 12: 59,155,873 (GRCm39) probably null Het
Mlip G T 9: 77,146,861 (GRCm39) T92K probably damaging Het
Nalcn T A 14: 123,702,113 (GRCm39) Y466F probably benign Het
Nav2 T A 7: 49,201,698 (GRCm39) L235* probably null Het
Nbn T C 4: 15,981,588 (GRCm39) V560A probably benign Het
Ncln A T 10: 81,328,987 (GRCm39) Y144N possibly damaging Het
Nfe2l2 A C 2: 75,509,765 (GRCm39) D18E probably benign Het
Or10aa3 G A 1: 173,878,091 (GRCm39) A51T probably benign Het
Or12d2 A G 17: 37,624,604 (GRCm39) F224L probably benign Het
Or1ak2 T C 2: 36,827,721 (GRCm39) C197R possibly damaging Het
Or5w11 T C 2: 87,458,951 (GRCm39) I48T possibly damaging Het
Otop3 A T 11: 115,230,221 (GRCm39) M33L probably benign Het
Pate7 T C 9: 35,689,329 (GRCm39) *84W probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Phf14 T C 6: 11,953,422 (GRCm39) I387T possibly damaging Het
Prb1c C T 6: 132,338,531 (GRCm39) G229D unknown Het
Prdm9 T A 17: 15,774,960 (GRCm39) N318Y probably damaging Het
Proca1 A G 11: 78,095,737 (GRCm39) D123G probably damaging Het
Prune2 G A 19: 17,098,083 (GRCm39) G1196S probably benign Het
Rps18 A G 17: 34,174,110 (GRCm39) V15A probably benign Het
Sanbr G T 11: 23,526,764 (GRCm39) T696N probably benign Het
Sharpin C A 15: 76,231,965 (GRCm39) R271L possibly damaging Het
Smad5 C A 13: 56,871,701 (GRCm39) Q99K probably damaging Het
Sox5 T C 6: 144,062,200 (GRCm39) M151V possibly damaging Het
Sphkap A T 1: 83,256,492 (GRCm39) F419Y possibly damaging Het
Tbx20 T A 9: 24,636,821 (GRCm39) Y422F probably damaging Het
Tcirg1 A C 19: 3,949,099 (GRCm39) F397V probably damaging Het
Tex36 G A 7: 133,197,012 (GRCm39) S35F possibly damaging Het
Tsen54 G T 11: 115,705,760 (GRCm39) A26S unknown Het
Usp50 T A 2: 126,622,250 (GRCm39) probably null Het
Vmn2r5 A T 3: 64,398,709 (GRCm39) F757I probably benign Het
Zbbx T C 3: 75,062,749 (GRCm39) T3A possibly damaging Het
Zfp28 T A 7: 6,392,828 (GRCm39) M168K probably benign Het
Zfp568 G T 7: 29,722,551 (GRCm39) G499W probably damaging Het
Zfp7 C G 15: 76,775,131 (GRCm39) P391R possibly damaging Het
Other mutations in Psd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Psd3 APN 8 68,361,331 (GRCm39) splice site probably benign
IGL01095:Psd3 APN 8 68,361,165 (GRCm39) missense probably damaging 1.00
IGL01139:Psd3 APN 8 68,361,187 (GRCm39) missense probably damaging 1.00
IGL01330:Psd3 APN 8 68,149,830 (GRCm39) missense probably damaging 1.00
IGL01350:Psd3 APN 8 68,173,544 (GRCm39) missense probably damaging 1.00
IGL01487:Psd3 APN 8 68,149,766 (GRCm39) missense probably benign 0.01
IGL01780:Psd3 APN 8 68,416,521 (GRCm39) missense probably benign
IGL02020:Psd3 APN 8 68,426,822 (GRCm39) intron probably benign
IGL02232:Psd3 APN 8 68,356,797 (GRCm39) missense probably damaging 1.00
IGL02350:Psd3 APN 8 68,416,521 (GRCm39) missense probably benign
IGL02357:Psd3 APN 8 68,416,521 (GRCm39) missense probably benign
PIT4495001:Psd3 UTSW 8 68,416,565 (GRCm39) missense probably benign 0.00
R0052:Psd3 UTSW 8 68,335,631 (GRCm39) critical splice donor site probably null
R0052:Psd3 UTSW 8 68,335,631 (GRCm39) critical splice donor site probably null
R0242:Psd3 UTSW 8 68,210,738 (GRCm39) missense probably damaging 0.99
R0242:Psd3 UTSW 8 68,210,738 (GRCm39) missense probably damaging 0.99
R0581:Psd3 UTSW 8 68,173,598 (GRCm39) missense probably damaging 1.00
R0655:Psd3 UTSW 8 68,416,341 (GRCm39) missense probably benign 0.19
R1740:Psd3 UTSW 8 68,573,491 (GRCm39) missense probably damaging 1.00
R1789:Psd3 UTSW 8 68,413,217 (GRCm39) missense probably benign 0.26
R1847:Psd3 UTSW 8 68,172,656 (GRCm39) missense possibly damaging 0.93
R1951:Psd3 UTSW 8 68,416,139 (GRCm39) missense probably benign 0.00
R1954:Psd3 UTSW 8 68,149,727 (GRCm39) missense probably damaging 1.00
R2143:Psd3 UTSW 8 68,417,003 (GRCm39) missense probably damaging 1.00
R4387:Psd3 UTSW 8 68,453,413 (GRCm39) missense probably damaging 1.00
R4801:Psd3 UTSW 8 68,573,800 (GRCm39) missense probably benign
R4802:Psd3 UTSW 8 68,573,800 (GRCm39) missense probably benign
R4913:Psd3 UTSW 8 68,573,821 (GRCm39) missense probably damaging 0.99
R5045:Psd3 UTSW 8 68,166,477 (GRCm39) missense probably damaging 0.99
R5173:Psd3 UTSW 8 68,149,641 (GRCm39) missense probably damaging 1.00
R5264:Psd3 UTSW 8 68,166,377 (GRCm39) missense probably benign 0.23
R5350:Psd3 UTSW 8 68,361,513 (GRCm39) missense probably benign 0.00
R5816:Psd3 UTSW 8 68,413,162 (GRCm39) missense possibly damaging 0.90
R5994:Psd3 UTSW 8 68,172,620 (GRCm39) missense probably damaging 1.00
R6157:Psd3 UTSW 8 68,574,179 (GRCm39) start codon destroyed probably benign 0.14
R6241:Psd3 UTSW 8 68,270,791 (GRCm39) intron probably benign
R6586:Psd3 UTSW 8 68,416,197 (GRCm39) missense probably damaging 0.96
R6735:Psd3 UTSW 8 68,573,398 (GRCm39) critical splice donor site probably null
R6908:Psd3 UTSW 8 68,416,829 (GRCm39) missense probably benign 0.00
R6984:Psd3 UTSW 8 68,270,697 (GRCm39) missense possibly damaging 0.85
R7082:Psd3 UTSW 8 68,356,800 (GRCm39) missense probably benign 0.03
R7116:Psd3 UTSW 8 68,166,390 (GRCm39) missense probably benign 0.12
R7297:Psd3 UTSW 8 68,573,686 (GRCm39) missense probably damaging 0.98
R7334:Psd3 UTSW 8 68,361,357 (GRCm39) missense possibly damaging 0.94
R7348:Psd3 UTSW 8 68,243,583 (GRCm39) missense possibly damaging 0.65
R7357:Psd3 UTSW 8 68,574,149 (GRCm39) missense probably benign 0.01
R7369:Psd3 UTSW 8 68,356,818 (GRCm39) missense possibly damaging 0.95
R7385:Psd3 UTSW 8 68,453,408 (GRCm39) missense probably damaging 1.00
R7733:Psd3 UTSW 8 68,573,568 (GRCm39) missense possibly damaging 0.75
R7873:Psd3 UTSW 8 68,335,634 (GRCm39) missense possibly damaging 0.95
R8765:Psd3 UTSW 8 68,416,093 (GRCm39) missense possibly damaging 0.69
R8768:Psd3 UTSW 8 68,417,003 (GRCm39) missense probably damaging 1.00
R8817:Psd3 UTSW 8 68,413,135 (GRCm39) missense possibly damaging 0.95
R8837:Psd3 UTSW 8 68,172,596 (GRCm39) missense probably damaging 0.99
R8878:Psd3 UTSW 8 68,210,750 (GRCm39) missense probably benign 0.28
R8903:Psd3 UTSW 8 68,165,945 (GRCm39) missense unknown
R8955:Psd3 UTSW 8 68,416,461 (GRCm39) missense probably benign 0.08
R9216:Psd3 UTSW 8 68,573,539 (GRCm39) missense probably benign 0.00
R9241:Psd3 UTSW 8 68,415,967 (GRCm39) missense probably benign 0.00
R9351:Psd3 UTSW 8 68,413,301 (GRCm39) missense probably benign 0.18
R9449:Psd3 UTSW 8 68,165,833 (GRCm39) missense unknown
R9451:Psd3 UTSW 8 68,363,487 (GRCm39) missense unknown
R9709:Psd3 UTSW 8 68,194,414 (GRCm39) missense probably null 0.99
R9797:Psd3 UTSW 8 68,210,778 (GRCm39) missense probably damaging 0.99
Z1088:Psd3 UTSW 8 68,358,912 (GRCm39) splice site silent
Predicted Primers PCR Primer
(F):5'- TCACAGTTCTTTGGGAGTACC -3'
(R):5'- AGACCAGCTGCTTTCGATTGC -3'

Sequencing Primer
(F):5'- GGAGTACCTCTTGGTTTACAGTCC -3'
(R):5'- TCGATTGCTACTCACTGAAGG -3'
Posted On 2020-06-30