Incidental Mutation 'R6908:Psd3'
ID 538867
Institutional Source Beutler Lab
Gene Symbol Psd3
Ensembl Gene ENSMUSG00000030465
Gene Name pleckstrin and Sec7 domain containing 3
Synonyms EFA6D, 4931420C21Rik
MMRRC Submission 045000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6908 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 68141734-68664679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68416829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 356 (I356K)
Ref Sequence ENSEMBL: ENSMUSP00000148783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038959] [ENSMUST00000093469] [ENSMUST00000098696] [ENSMUST00000212505] [ENSMUST00000212960]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000038959
AA Change: I70K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: I70K

DomainStartEndE-ValueType
low complexity region 204 218 N/A INTRINSIC
Blast:Sec7 431 496 5e-28 BLAST
Sec7 502 693 3.9e-53 SMART
PH 743 857 3.85e-15 SMART
Blast:Sec7 876 938 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000093469
AA Change: I70K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: I70K

DomainStartEndE-ValueType
low complexity region 204 218 N/A INTRINSIC
Blast:Sec7 431 496 5e-28 BLAST
Sec7 502 692 2.4e-53 SMART
PH 742 856 3.85e-15 SMART
Blast:Sec7 875 937 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000098696
AA Change: I70K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: I70K

DomainStartEndE-ValueType
low complexity region 204 218 N/A INTRINSIC
Blast:Sec7 431 496 5e-28 BLAST
Sec7 502 692 2.4e-53 SMART
PH 742 856 3.85e-15 SMART
Blast:Sec7 875 937 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000212505
AA Change: I103K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212960
AA Change: I356K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,477,668 (GRCm39) I1197T probably benign Het
Atp2a1 A G 7: 126,047,707 (GRCm39) probably null Het
B3glct T C 5: 149,619,941 (GRCm39) probably null Het
Bbs9 T G 9: 22,479,019 (GRCm39) I154S probably damaging Het
Brip1 T C 11: 85,968,710 (GRCm39) Y825C probably damaging Het
Ccdc186 A T 19: 56,780,371 (GRCm39) probably null Het
Celf6 T C 9: 59,511,106 (GRCm39) V349A probably benign Het
Chd9 A G 8: 91,683,044 (GRCm39) T495A probably benign Het
Cxxc1 G A 18: 74,353,630 (GRCm39) C546Y probably damaging Het
Cxxc5 T C 18: 35,992,268 (GRCm39) V223A probably damaging Het
Dlc1 A G 8: 37,404,841 (GRCm39) F316S probably benign Het
Dnajc12 C A 10: 63,233,104 (GRCm39) Q82K probably benign Het
Dock8 G A 19: 25,165,746 (GRCm39) E1877K probably damaging Het
Epha3 T G 16: 63,418,612 (GRCm39) H611P probably damaging Het
Fpr-rs6 C A 17: 20,402,701 (GRCm39) C220F probably damaging Het
Fryl A G 5: 73,179,554 (GRCm39) L2951P probably damaging Het
Gbp10 T G 5: 105,368,898 (GRCm39) T314P probably damaging Het
Hbb-bs T C 7: 103,476,741 (GRCm39) N77D probably benign Het
Ints13 A T 6: 146,456,531 (GRCm39) D438E probably damaging Het
Itgb6 C T 2: 60,480,365 (GRCm39) V324M probably benign Het
Kdm7a G T 6: 39,121,373 (GRCm39) L861M possibly damaging Het
Kirrel3 A G 9: 34,924,697 (GRCm39) T302A possibly damaging Het
Lama2 A T 10: 26,907,192 (GRCm39) probably null Het
Lrp2 A T 2: 69,302,709 (GRCm39) C3007S probably damaging Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Mastl T C 2: 23,045,988 (GRCm39) probably benign Het
Mcf2l T C 8: 13,068,919 (GRCm39) V1087A probably benign Het
Mcmdc2 C A 1: 10,001,003 (GRCm39) probably null Het
Ms4a3 A G 19: 11,615,659 (GRCm39) I39T probably damaging Het
Mylk T G 16: 34,700,643 (GRCm39) C495G probably benign Het
Myo10 A G 15: 25,804,469 (GRCm39) D1588G probably damaging Het
Myo15a A T 11: 60,396,832 (GRCm39) T2634S probably damaging Het
Nlrp1b T C 11: 71,108,122 (GRCm39) I460V probably benign Het
Nmt1 T G 11: 102,949,080 (GRCm39) S312A possibly damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or2d4 T C 7: 106,543,839 (GRCm39) Y123C possibly damaging Het
Paxip1 T C 5: 27,996,222 (GRCm39) Y19C possibly damaging Het
Pcdhb2 G T 18: 37,429,577 (GRCm39) A517S probably damaging Het
Pkd2l1 A G 19: 44,140,885 (GRCm39) I559T probably damaging Het
Plec G A 15: 76,070,081 (GRCm39) Q806* probably null Het
Prss51 C T 14: 64,333,601 (GRCm39) A70V probably benign Het
Ptprn2 A T 12: 116,852,508 (GRCm39) I522F probably benign Het
Rab39 T C 9: 53,617,369 (GRCm39) D16G probably damaging Het
Ralgps1 T C 2: 33,033,112 (GRCm39) Q439R probably benign Het
Rapgef2 A T 3: 79,011,370 (GRCm39) D238E probably benign Het
Ripor2 G A 13: 24,890,215 (GRCm39) G697S probably damaging Het
Scn11a A T 9: 119,621,492 (GRCm39) F642I probably damaging Het
Serinc4 G A 2: 121,284,086 (GRCm39) T310I probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,040,712 (GRCm39) probably benign Het
Smc1b A G 15: 84,991,211 (GRCm39) S656P probably damaging Het
Sorbs1 A G 19: 40,340,776 (GRCm39) S455P probably damaging Het
Ttn C A 2: 76,720,202 (GRCm39) probably benign Het
Tyw5 T C 1: 57,440,682 (GRCm39) R27G probably damaging Het
Vmn1r209 T C 13: 22,990,400 (GRCm39) T97A 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
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
R8110:Psd3 UTSW 8 68,573,708 (GRCm39) missense probably damaging 1.00
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'- GGCTCTCTGTGGCTTATGAC -3'
(R):5'- GTGATCATGGAGGAAGCACTTTAC -3'

Sequencing Primer
(F):5'- ATGACTGGCAGTACTCAGTTC -3'
(R):5'- TGGAGGAAGCACTTTACTCCCAC -3'
Posted On 2018-11-06