Incidental Mutation 'R1789:Psd3'
ID 201624
Institutional Source Beutler Lab
Gene Symbol Psd3
Ensembl Gene ENSMUSG00000030465
Gene Name pleckstrin and Sec7 domain containing 3
Synonyms EFA6D, 4931420C21Rik
MMRRC Submission 039820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R1789 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 68141734-68664679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68413217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 724 (I724V)
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: I438V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041339
Gene: ENSMUSG00000030465
AA Change: I438V

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: I438V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091179
Gene: ENSMUSG00000030465
AA Change: I438V

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: I438V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096293
Gene: ENSMUSG00000030465
AA Change: I438V

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 noncoding transcript
Transcript: ENSMUST00000127631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212123
Predicted Effect probably benign
Transcript: ENSMUST00000212505
AA Change: I471V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000212960
AA Change: I724V

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,184,701 (GRCm39) P986L probably damaging Het
Acad10 A T 5: 121,769,456 (GRCm39) Y667N possibly damaging Het
Ahi1 G A 10: 20,839,014 (GRCm39) G121D probably benign Het
Ampd1 T A 3: 103,006,442 (GRCm39) I690N possibly damaging Het
Amy1 C A 3: 113,351,814 (GRCm39) W425L possibly damaging Het
Arhgap27 A T 11: 103,223,831 (GRCm39) V823E probably damaging Het
Arhgef17 A G 7: 100,579,077 (GRCm39) S624P probably damaging Het
Arid5b T C 10: 68,021,897 (GRCm39) H231R probably damaging Het
Aspscr1 C A 11: 120,579,386 (GRCm39) T78N probably damaging Het
Auts2 T A 5: 131,501,288 (GRCm39) T42S probably damaging Het
Ccdc171 A G 4: 83,473,045 (GRCm39) D158G probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap61 T C 2: 145,781,913 (GRCm39) probably null Het
Chrna5 T C 9: 54,911,935 (GRCm39) V245A possibly damaging Het
Cntnap5c G A 17: 58,320,916 (GRCm39) G163R probably damaging Het
Col5a2 A G 1: 45,417,465 (GRCm39) probably null Het
Col5a2 T C 1: 45,433,936 (GRCm39) Q759R probably damaging Het
Comp A G 8: 70,829,796 (GRCm39) D340G probably benign Het
Cyfip1 T A 7: 55,576,143 (GRCm39) D1104E probably damaging Het
Dnah11 A T 12: 118,002,515 (GRCm39) S308T probably damaging Het
Dnah5 A G 15: 28,270,572 (GRCm39) H958R probably benign Het
Elp3 A G 14: 65,785,368 (GRCm39) Y478H probably damaging Het
Fam237b A T 5: 5,625,652 (GRCm39) Q116L possibly damaging Het
Fat3 T C 9: 16,288,281 (GRCm39) Y414C probably benign Het
Fbxo10 C A 4: 45,046,389 (GRCm39) A574S probably damaging Het
Fsip2 G T 2: 82,807,906 (GRCm39) L1408F probably benign Het
Fubp3 T C 2: 31,501,747 (GRCm39) V425A possibly damaging Het
Gm7168 A T 17: 14,169,846 (GRCm39) R404S probably benign Het
Gpd1 T G 15: 99,621,083 (GRCm39) F299C probably damaging Het
Gpr137 C T 19: 6,919,425 (GRCm39) probably benign Het
Grin3b T C 10: 79,809,242 (GRCm39) S331P probably benign Het
Grk3 T A 5: 113,089,584 (GRCm39) I281F probably damaging Het
Hoxb7 T A 11: 96,177,607 (GRCm39) S18R probably damaging Het
Igf1r C T 7: 67,864,681 (GRCm39) R1160* probably null Het
Itfg1 A G 8: 86,452,141 (GRCm39) probably null Het
Itgb8 T C 12: 119,166,190 (GRCm39) I114V probably benign Het
Kcnk1 A G 8: 126,752,123 (GRCm39) E243G possibly damaging Het
Kif27 A G 13: 58,491,822 (GRCm39) L439P probably damaging Het
Kif2c T A 4: 117,024,558 (GRCm39) Q279L probably benign Het
Kmt2d A T 15: 98,749,955 (GRCm39) probably benign Het
L3mbtl1 A G 2: 162,816,422 (GRCm39) T821A probably benign Het
Lrrc24 A T 15: 76,606,778 (GRCm39) M206K probably benign Het
Mamdc4 T G 2: 25,457,634 (GRCm39) K460Q possibly damaging Het
Maml2 C G 9: 13,608,641 (GRCm39) L30V probably damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Myo10 T G 15: 25,726,611 (GRCm39) probably null Het
Myo1e T A 9: 70,246,066 (GRCm39) L419Q probably damaging Het
Myo6 C A 9: 80,207,854 (GRCm39) H1115Q probably damaging Het
Myo7a A G 7: 97,756,302 (GRCm39) V10A probably damaging Het
Myoz2 C T 3: 122,819,776 (GRCm39) R61H probably damaging Het
Ncdn G A 4: 126,645,796 (GRCm39) R38C probably damaging Het
Nckap1 T A 2: 80,350,900 (GRCm39) T736S probably benign Het
Ncor2 G A 5: 125,096,954 (GRCm39) A2325V probably damaging Het
Nid2 T A 14: 19,802,499 (GRCm39) V140E possibly damaging Het
Nlrp9c C A 7: 26,079,915 (GRCm39) D704Y probably benign Het
Notch3 T A 17: 32,377,699 (GRCm39) S126C probably damaging Het
Or2g7 T C 17: 38,378,839 (GRCm39) I259T probably damaging Het
Or5p60 A G 7: 107,724,122 (GRCm39) F116S probably benign Het
Or5w10 A T 2: 87,375,327 (GRCm39) L187H probably damaging Het
Or6c219 A T 10: 129,781,451 (GRCm39) L160* probably null Het
Or6c6c T C 10: 129,541,476 (GRCm39) M243T possibly damaging Het
Or6d15 A C 6: 116,559,658 (GRCm39) F83C probably damaging Het
Pdzd7 A G 19: 45,027,667 (GRCm39) I269T probably damaging Het
Phf3 A T 1: 30,845,287 (GRCm39) D1299E probably damaging Het
Pitx2 T A 3: 129,012,403 (GRCm39) Y271N probably damaging Het
Polk T C 13: 96,633,140 (GRCm39) E301G probably damaging Het
Prkdc C A 16: 15,557,388 (GRCm39) N2230K probably damaging Het
Prlr A G 15: 10,322,622 (GRCm39) E170G probably benign Het
Prss55 A G 14: 64,313,179 (GRCm39) I235T probably damaging Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rbm26 T A 14: 105,354,509 (GRCm39) K949N probably benign Het
Rnf213 T A 11: 119,331,047 (GRCm39) D2085E probably damaging Het
Serpinb7 A T 1: 107,378,003 (GRCm39) H232L possibly damaging Het
Slu7 A G 11: 43,336,069 (GRCm39) Q484R probably benign Het
Smg1 A G 7: 117,745,021 (GRCm39) S3044P possibly damaging Het
Snrnp48 A G 13: 38,405,336 (GRCm39) D248G possibly damaging Het
Snrpc C A 17: 28,064,193 (GRCm39) P66Q unknown Het
Snrpn T A 7: 59,633,207 (GRCm39) probably benign Het
Spag17 T A 3: 99,846,672 (GRCm39) S65R possibly damaging Het
Srsf6 C A 2: 162,776,408 (GRCm39) probably benign Het
Stil T A 4: 114,898,979 (GRCm39) M1203K probably benign Het
Syt17 T C 7: 118,036,061 (GRCm39) T106A probably benign Het
Tbx15 C T 3: 99,259,562 (GRCm39) Q478* probably null Het
Tg A T 15: 66,609,397 (GRCm39) Q319L probably benign Het
Thada A G 17: 84,755,461 (GRCm39) L243P probably damaging Het
Thada G T 17: 84,755,462 (GRCm39) L243I probably damaging Het
Tnnt3 A G 7: 142,066,101 (GRCm39) R211G probably damaging Het
Togaram1 A T 12: 65,049,409 (GRCm39) Q1282L possibly damaging Het
Tpm3-rs7 T G 14: 113,552,379 (GRCm39) M91R probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll7 T G 3: 146,621,535 (GRCm39) L378R probably damaging Het
Tyw1 T G 5: 130,287,834 (GRCm39) I22R probably damaging Het
Ubr3 T C 2: 69,846,711 (GRCm39) S1645P possibly damaging Het
Ubr4 T C 4: 139,120,364 (GRCm39) L263P probably damaging Het
Unc13c T C 9: 73,663,621 (GRCm39) E1071G possibly damaging Het
Vmn2r44 G T 7: 8,383,122 (GRCm39) D157E possibly damaging Het
Vps16 C T 2: 130,285,520 (GRCm39) T821I probably benign Het
Washc4 T C 10: 83,415,389 (GRCm39) V793A possibly damaging Het
Wdr35 G T 12: 9,027,435 (GRCm39) probably null Het
Zfp277 A G 12: 40,414,084 (GRCm39) F254L probably benign 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
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
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'- AATGGCACTGCTACCTTCC -3'
(R):5'- GATTCTCGATCAAGAGGAGCAC -3'

Sequencing Primer
(F):5'- TTCCCCAGAAGGCAATCTCTTGAG -3'
(R):5'- CACCTTAGGGGAGATGATGATATTC -3'
Posted On 2014-06-23