Incidental Mutation 'R7385:Psd3'
ID 573032
Institutional Source Beutler Lab
Gene Symbol Psd3
Ensembl Gene ENSMUSG00000030465
Gene Name pleckstrin and Sec7 domain containing 3
Synonyms EFA6D, 4931420C21Rik
MMRRC Submission 045467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R7385 (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 68453408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 284 (F284I)
Ref Sequence ENSEMBL: ENSMUSP00000148783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000212505] [ENSMUST00000212960]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000212505
AA Change: F31I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000212960
AA Change: F284I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1895 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T C 1: 179,580,946 (GRCm39) E1752G possibly damaging Het
Aqp3 T C 4: 41,095,178 (GRCm39) T68A probably damaging Het
Arhgap40 A G 2: 158,385,147 (GRCm39) K463R probably damaging Het
Asb10 A T 5: 24,738,736 (GRCm39) C440* probably null Het
Bach1 A G 16: 87,526,385 (GRCm39) T616A probably damaging Het
Braf T A 6: 39,642,042 (GRCm39) probably null Het
Cacna1s A T 1: 136,020,371 (GRCm39) N803Y probably damaging Het
Cald1 A G 6: 34,663,000 (GRCm39) E21G probably damaging Het
Caskin1 G T 17: 24,722,898 (GRCm39) G589C probably damaging Het
Cdc37l1 T C 19: 28,968,071 (GRCm39) probably null Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col5a1 T C 2: 27,914,762 (GRCm39) L1615P unknown Het
Cpt1a C A 19: 3,430,155 (GRCm39) P672T probably damaging Het
Defb22 A G 2: 152,328,117 (GRCm39) Y23H probably damaging Het
Depdc1b G C 13: 108,500,166 (GRCm39) K226N probably damaging Het
Derl2 A G 11: 70,909,764 (GRCm39) probably benign Het
Dnaja2 T C 8: 86,265,982 (GRCm39) T368A probably benign Het
Dsg3 C A 18: 20,673,254 (GRCm39) T975K possibly damaging Het
Eif4enif1 T A 11: 3,170,269 (GRCm39) D107E probably damaging Het
Fut11 A G 14: 20,746,325 (GRCm39) D389G probably damaging Het
Gopc C T 10: 52,225,328 (GRCm39) G299E probably damaging Het
Gprin1 T C 13: 54,886,423 (GRCm39) D617G probably benign Het
Grin2d A G 7: 45,506,960 (GRCm39) V505A probably damaging Het
Heatr6 T C 11: 83,650,161 (GRCm39) Y206H probably damaging Het
Hhex C A 19: 37,425,713 (GRCm39) N147K probably damaging Het
Igkv4-80 G A 6: 68,993,699 (GRCm39) S64F probably damaging Het
Jakmip3 A G 7: 138,625,068 (GRCm39) K360R possibly damaging Het
Kat5 AG A 19: 5,658,297 (GRCm39) probably null Het
Kat5 T A 19: 5,658,302 (GRCm39) N191I probably benign Het
Kifc5b A G 17: 27,144,597 (GRCm39) D572G probably damaging Het
Lrp5 C A 19: 3,662,197 (GRCm39) probably null Het
Lrtm1 A G 14: 28,749,673 (GRCm39) M345V probably benign Het
Mbd5 T C 2: 49,162,461 (GRCm39) V981A probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mrgprd A G 7: 144,875,261 (GRCm39) N44S probably damaging Het
Mrps10 C A 17: 47,689,146 (GRCm39) P181Q probably damaging Het
Myot T A 18: 44,470,075 (GRCm39) C17* probably null Het
Myt1 A G 2: 181,409,498 (GRCm39) probably null Het
Ncoa6 C A 2: 155,249,721 (GRCm39) L1194F probably damaging Het
Or4d11 T C 19: 12,013,363 (GRCm39) T248A probably benign Het
Or4d6 T C 19: 12,086,061 (GRCm39) N57S probably damaging Het
Or4e5 T C 14: 52,727,638 (GRCm39) Y261C probably damaging Het
Or7a39 C A 10: 78,715,288 (GRCm39) T94K probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Osbpl6 G A 2: 76,379,794 (GRCm39) G128E probably damaging Het
P3h3 A T 6: 124,832,233 (GRCm39) Y218N probably damaging Het
Paxip1 A G 5: 27,986,418 (GRCm39) probably null Het
Pdia5 T C 16: 35,250,284 (GRCm39) Y225C probably damaging Het
Pik3c2g T G 6: 139,801,079 (GRCm39) M526R Het
Prox1 A G 1: 189,894,323 (GRCm39) F41L probably benign Het
Rev3l T A 10: 39,699,678 (GRCm39) C1392S probably benign Het
Rfxank A T 8: 70,587,285 (GRCm39) V212E probably damaging Het
Ros1 T C 10: 52,031,222 (GRCm39) D482G probably benign Het
Sat2 A T 11: 69,513,763 (GRCm39) I94F probably damaging Het
Scarf2 T C 16: 17,621,702 (GRCm39) L384P probably damaging Het
Sec14l2 C A 11: 4,066,750 (GRCm39) E21* probably null Het
Slitrk5 T A 14: 111,918,131 (GRCm39) V585E probably benign Het
Spata31h1 T A 10: 82,123,571 (GRCm39) E3146D probably benign Het
Spata31h1 T C 10: 82,123,729 (GRCm39) S3094G probably benign Het
Tas2r130 T A 6: 131,607,226 (GRCm39) M190L probably benign Het
Ticrr G A 7: 79,341,597 (GRCm39) S1061N possibly damaging Het
Tlr9 C A 9: 106,102,463 (GRCm39) H585N probably damaging Het
Tmem219 A T 7: 126,495,947 (GRCm39) I142N probably damaging Het
Tnni2 A G 7: 141,996,915 (GRCm39) N8S probably benign Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Ttc8 A G 12: 98,908,547 (GRCm39) E72G possibly damaging Het
Upf1 A G 8: 70,793,268 (GRCm39) Y297H probably damaging Het
Vmn1r4 A G 6: 56,933,721 (GRCm39) K75R probably damaging Het
Vmn2r78 G A 7: 86,571,633 (GRCm39) G481D probably benign Het
Vmn2r96 A G 17: 18,803,302 (GRCm39) Y404C probably damaging Het
Vps50 T A 6: 3,602,708 (GRCm39) S942T probably benign Het
Xkr7 C A 2: 152,895,983 (GRCm39) S279* probably null Het
Zan G A 5: 137,432,416 (GRCm39) Q2294* probably null Het
Zan T C 5: 137,448,753 (GRCm39) Y1700C unknown 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
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'- GAGCAAGCTGTAGGAACTATATCC -3'
(R):5'- GTGTATCAAGCATATTTACCGCGG -3'

Sequencing Primer
(F):5'- CCAACTCTAGTTTTGGGAAGACAGC -3'
(R):5'- CCGCGGTGGTGTAATCATTCC -3'
Posted On 2019-09-13