Incidental Mutation 'R9316:Pacsin1'
ID 705895
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R9316 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 27874565-27930092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27924707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 186 (K186E)
Ref Sequence ENSEMBL: ENSMUSP00000044168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045896] [ENSMUST00000097360] [ENSMUST00000114872] [ENSMUST00000114873] [ENSMUST00000231236] [ENSMUST00000231669] [ENSMUST00000232437]
AlphaFold Q61644
PDB Structure STRUCTURE OF THE F-BAR DOMAIN OF MOUSE SYNDAPIN I [X-RAY DIFFRACTION]
structure of mouse syndapin I (crystal form 2) [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE SYNDAPIN I (CRYSTAL FORM 1) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045896
AA Change: K186E

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: K186E

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 possibly damaging
Transcript: ENSMUST00000097360
AA Change: K186E

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: K186E

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: ENSMUST00000114872
AA Change: K29E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276
AA Change: K29E

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 possibly damaging
Transcript: ENSMUST00000114873
AA Change: K186E

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: K186E

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 possibly damaging
Transcript: ENSMUST00000231669
AA Change: K186E

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232437
AA Change: K186E

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 91% (32/35)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 C A 2: 158,477,274 (GRCm39) N408K probably benign Het
AI661453 A G 17: 47,747,832 (GRCm39) I35V probably benign Het
Asb10 G T 5: 24,745,045 (GRCm39) N101K possibly damaging Het
Bpifa6 T C 2: 153,828,383 (GRCm39) V163A possibly damaging Het
Dmp1 G T 5: 104,357,767 (GRCm39) D36Y probably benign Het
Eef1d T A 15: 75,781,130 (GRCm39) probably benign Het
Gcm2 C T 13: 41,259,328 (GRCm39) R47H probably damaging Het
Gm7145 A G 1: 117,896,174 (GRCm39) N72S probably benign Het
Gpr45 T A 1: 43,071,534 (GRCm39) V59E probably damaging Het
Gucy1a1 T C 3: 82,016,250 (GRCm39) E246G possibly damaging Het
Hspa12a C T 19: 58,793,079 (GRCm39) E369K probably benign Het
Iho1 T C 9: 108,298,726 (GRCm39) T31A possibly damaging Het
Il6st T A 13: 112,639,349 (GRCm39) N652K possibly damaging Het
Kdm5a T A 6: 120,381,973 (GRCm39) D672E probably damaging Het
Klk6 T C 7: 43,477,912 (GRCm39) S95P probably benign Het
Lrrc51 C T 7: 101,562,351 (GRCm39) R169H probably damaging Het
Or14c41 T C 7: 86,235,134 (GRCm39) V217A probably benign Het
Or3a4 A T 11: 73,944,892 (GRCm39) I231N probably damaging Het
Pate3 C T 9: 35,557,374 (GRCm39) C94Y probably damaging Het
Pcdh18 G A 3: 49,709,089 (GRCm39) T742M probably damaging Het
Pogz T A 3: 94,784,659 (GRCm39) S779T probably damaging Het
Prep A T 10: 44,967,192 (GRCm39) K75M probably damaging Het
Qsox2 T G 2: 26,101,084 (GRCm39) K475T probably benign Het
Qsox2 T A 2: 26,101,085 (GRCm39) K475* probably null Het
Rfng A T 11: 120,674,863 (GRCm39) D42E unknown Het
Ripor2 C T 13: 24,905,719 (GRCm39) T955M probably benign Het
Ryr1 C T 7: 28,717,387 (GRCm39) E4554K unknown Het
Slco1a5 A T 6: 142,195,935 (GRCm39) L356H probably damaging Het
Tbc1d21 G A 9: 58,274,215 (GRCm39) A30V probably benign Het
Tmem161b C A 13: 84,430,855 (GRCm39) H158N possibly damaging Het
Tmem217 A G 17: 29,745,383 (GRCm39) F116L probably benign Het
Tnfrsf13c A G 15: 82,108,021 (GRCm39) I119T probably benign Het
Tpp2 G A 1: 44,017,604 (GRCm39) R736H probably damaging Het
Vmn2r75 T A 7: 85,797,313 (GRCm39) R833S possibly damaging Het
Zfp330 A G 8: 83,491,487 (GRCm39) S229P 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
R6284:Pacsin1 UTSW 17 27,927,478 (GRCm39) missense probably damaging 1.00
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
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'- GAGTGAACAGGCACGTGTTG -3'
(R):5'- CCTCCATGTACTGTGGTGTG -3'

Sequencing Primer
(F):5'- CACGTGTTGCTGACGGG -3'
(R):5'- CTGAGTCTGCAGGTACCAGGATG -3'
Posted On 2022-03-25