Incidental Mutation 'R6284:Pacsin1'
ID 508135
Institutional Source Beutler Lab
Gene Symbol Pacsin1
Ensembl Gene ENSMUSG00000040276
Gene Name protein kinase C and casein kinase substrate in neurons 1
Synonyms A830061D09Rik, Syndapin I
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 27874565-27930092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27927478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 432 (L432P)
Ref Sequence ENSEMBL: ENSMUSP00000155999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045896] [ENSMUST00000097360] [ENSMUST00000114872] [ENSMUST00000114873] [ENSMUST00000231236] [ENSMUST00000232437] [ENSMUST00000231669]
AlphaFold Q61644
Predicted Effect probably damaging
Transcript: ENSMUST00000045896
AA Change: L432P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: L432P

DomainStartEndE-ValueType
FCH 14 102 1.53e-29 SMART
low complexity region 144 156 N/A INTRINSIC
low complexity region 225 236 N/A INTRINSIC
SH3 385 441 8.11e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000097360
AA Change: L432P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: L432P

DomainStartEndE-ValueType
FCH 14 102 1.53e-29 SMART
low complexity region 144 156 N/A INTRINSIC
low complexity region 225 236 N/A INTRINSIC
SH3 385 441 8.11e-17 SMART
Predicted Effect unknown
Transcript: ENSMUST00000114872
AA Change: S274P
SMART Domains Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276
AA Change: S274P

DomainStartEndE-ValueType
FCH 14 102 1.53e-29 SMART
low complexity region 144 156 N/A INTRINSIC
low complexity region 225 236 N/A INTRINSIC
SH3 385 441 8.11e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114873
AA Change: L432P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: L432P

DomainStartEndE-ValueType
FCH 14 102 1.53e-29 SMART
low complexity region 144 156 N/A INTRINSIC
low complexity region 225 236 N/A INTRINSIC
SH3 385 441 8.11e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231350
Predicted Effect probably damaging
Transcript: ENSMUST00000232437
AA Change: L432P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231669
AA Change: L432P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231854
Meta Mutation Damage Score 0.9734 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Homozygotes for a gene trapped allele show altered type I interferon responses in plasmacytoid dendritic cells. Homozygotes for a null allele show impaired synaptic vesicle formation, synaptic transmission and neuronal network activity, and develop generalized seizures with tonic-clonic convulsions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q probably damaging Het
Other mutations in Pacsin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Pacsin1 APN 17 27,923,809 (GRCm39) splice site probably null
IGL02752:Pacsin1 APN 17 27,921,672 (GRCm39) critical splice acceptor site probably null
R1428:Pacsin1 UTSW 17 27,924,937 (GRCm39) missense probably damaging 1.00
R2332:Pacsin1 UTSW 17 27,923,885 (GRCm39) missense possibly damaging 0.73
R4349:Pacsin1 UTSW 17 27,925,978 (GRCm39) missense possibly damaging 0.52
R4664:Pacsin1 UTSW 17 27,926,038 (GRCm39) missense probably damaging 1.00
R5568:Pacsin1 UTSW 17 27,927,022 (GRCm39) missense probably damaging 1.00
R5936:Pacsin1 UTSW 17 27,923,971 (GRCm39) missense probably benign 0.16
R5943:Pacsin1 UTSW 17 27,925,045 (GRCm39) missense probably damaging 1.00
R6277:Pacsin1 UTSW 17 27,924,969 (GRCm39) splice site probably null
R6376:Pacsin1 UTSW 17 27,926,879 (GRCm39) missense probably benign 0.33
R7134:Pacsin1 UTSW 17 27,921,707 (GRCm39) missense probably damaging 1.00
R7972:Pacsin1 UTSW 17 27,927,613 (GRCm39) missense unknown
R8141:Pacsin1 UTSW 17 27,926,034 (GRCm39) missense possibly damaging 0.78
R9263:Pacsin1 UTSW 17 27,923,924 (GRCm39) missense probably damaging 1.00
R9316:Pacsin1 UTSW 17 27,924,707 (GRCm39) missense possibly damaging 0.77
R9414:Pacsin1 UTSW 17 27,926,985 (GRCm39) missense probably damaging 0.99
Z1177:Pacsin1 UTSW 17 27,927,412 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTGAAGGCCTGTGGTTAG -3'
(R):5'- CTGCAAACGCTGTCTCTTCG -3'

Sequencing Primer
(F):5'- AAGGCCTGTGGTTAGCATTTG -3'
(R):5'- TGGAACTCTATGGCAAGG -3'
Posted On 2018-03-15