Incidental Mutation 'R4873:Synj2'
ID 472605
Institutional Source Beutler Lab
Gene Symbol Synj2
Ensembl Gene ENSMUSG00000023805
Gene Name synaptojanin 2
Synonyms SJ2
MMRRC Submission 042483-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R4873 (G1)
Quality Score 220
Status Not validated
Chromosome 17
Chromosomal Location 5991555-6094565 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 6038343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000115788] [ENSMUST00000115789] [ENSMUST00000115790] [ENSMUST00000115791] [ENSMUST00000134767] [ENSMUST00000142409]
AlphaFold Q9D2G5
Predicted Effect probably benign
Transcript: ENSMUST00000061091
SMART Domains Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 263 2.5e-72 PFAM
Blast:IPPc 394 423 3e-6 BLAST
IPPc 443 785 3.72e-128 SMART
DUF1866 778 923 1.04e-73 SMART
low complexity region 926 940 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
low complexity region 1012 1027 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080283
SMART Domains Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 60 348 5.5e-78 PFAM
Blast:IPPc 479 508 3e-6 BLAST
IPPc 528 870 3.72e-128 SMART
DUF1866 863 1008 1.04e-73 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1050 1061 N/A INTRINSIC
low complexity region 1167 1179 N/A INTRINSIC
low complexity region 1217 1234 N/A INTRINSIC
low complexity region 1263 1277 N/A INTRINSIC
low complexity region 1293 1306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115788
SMART Domains Protein: ENSMUSP00000111454
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 108 4.8e-28 PFAM
Blast:IPPc 239 268 2e-6 BLAST
IPPc 288 630 3.72e-128 SMART
DUF1866 623 768 1.04e-73 SMART
low complexity region 771 785 N/A INTRINSIC
low complexity region 810 821 N/A INTRINSIC
low complexity region 927 939 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115789
SMART Domains Protein: ENSMUSP00000111455
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 187 2.3e-60 PFAM
Blast:IPPc 318 347 2e-6 BLAST
IPPc 367 709 3.72e-128 SMART
DUF1866 702 847 1.04e-73 SMART
low complexity region 850 864 N/A INTRINSIC
low complexity region 889 900 N/A INTRINSIC
low complexity region 1006 1018 N/A INTRINSIC
low complexity region 1056 1073 N/A INTRINSIC
low complexity region 1102 1116 N/A INTRINSIC
low complexity region 1132 1145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115790
SMART Domains Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 263 3e-72 PFAM
Blast:IPPc 394 423 3e-6 BLAST
IPPc 443 785 3.72e-128 SMART
DUF1866 778 923 1.04e-73 SMART
low complexity region 926 940 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
low complexity region 1012 1027 N/A INTRINSIC
low complexity region 1127 1139 N/A INTRINSIC
low complexity region 1177 1194 N/A INTRINSIC
low complexity region 1223 1237 N/A INTRINSIC
low complexity region 1253 1266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115791
SMART Domains Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 61 343 8.5e-67 PFAM
Blast:IPPc 479 508 3e-6 BLAST
IPPc 528 870 3.72e-128 SMART
DUF1866 863 1008 1.04e-73 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1050 1061 N/A INTRINSIC
low complexity region 1097 1112 N/A INTRINSIC
low complexity region 1212 1224 N/A INTRINSIC
low complexity region 1262 1279 N/A INTRINSIC
low complexity region 1308 1322 N/A INTRINSIC
low complexity region 1338 1351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134767
Predicted Effect probably benign
Transcript: ENSMUST00000142409
SMART Domains Protein: ENSMUSP00000120006
Gene: ENSMUSG00000023805

DomainStartEndE-ValueType
Pfam:Syja_N 1 108 2.5e-28 PFAM
Blast:IPPc 239 268 2e-6 BLAST
IPPc 288 630 3.72e-128 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, other(1) Gene trapped(4)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 A T 2: 32,521,189 (GRCm39) E119D probably benign Het
Alox5 A T 6: 116,390,811 (GRCm39) probably null Het
Atad5 T C 11: 80,011,515 (GRCm39) V1294A probably damaging Het
BB019430 A G 10: 58,539,865 (GRCm39) noncoding transcript Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Catsperb A T 12: 101,554,244 (GRCm39) N646I possibly damaging Het
Ccdc112 A G 18: 46,429,356 (GRCm39) I114T probably damaging Het
Cecr2 T C 6: 120,727,877 (GRCm39) L340P probably damaging Het
Ces2e T A 8: 105,653,817 (GRCm39) V85E probably damaging Het
Cnpy2 C A 10: 128,161,964 (GRCm39) T79K probably damaging Het
Cntn4 G A 6: 106,414,874 (GRCm39) R135H possibly damaging Het
Cyp3a16 C A 5: 145,389,659 (GRCm39) M235I probably benign Het
Dll3 A G 7: 27,995,860 (GRCm39) C314R probably damaging Het
Dnah7c A G 1: 46,728,085 (GRCm39) N2928D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dqx1 C A 6: 83,037,993 (GRCm39) D460E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ehbp1 A G 11: 22,051,164 (GRCm39) C438R probably damaging Het
Ehd3 T G 17: 74,112,299 (GRCm39) V21G probably damaging Het
Ero1b G A 13: 12,619,325 (GRCm39) V440I probably damaging Het
Fpgt G A 3: 154,793,550 (GRCm39) A159V probably damaging Het
Gcn1 T C 5: 115,714,229 (GRCm39) L123P possibly damaging Het
Gm14496 A T 2: 181,639,226 (GRCm39) R439W probably damaging Het
Gm4353 G C 7: 115,683,648 (GRCm39) P49R probably damaging Het
Gsdmc2 C T 15: 63,700,101 (GRCm39) A224T probably benign Het
Hnf1a T C 5: 115,108,732 (GRCm39) T58A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcns1 T C 2: 164,010,021 (GRCm39) Y246C probably damaging Het
Kif26b A G 1: 178,742,892 (GRCm39) E549G probably benign Het
Krt9 T C 11: 100,080,863 (GRCm39) I330V probably benign Het
Lair1 A T 7: 4,032,033 (GRCm39) S25T probably benign Het
Lhx4 T C 1: 155,581,013 (GRCm39) T171A possibly damaging Het
Luzp2 A G 7: 54,816,996 (GRCm39) I149V possibly damaging Het
Mcoln1 T A 8: 3,557,422 (GRCm39) S143T probably benign Het
Mcph1 A G 8: 18,675,574 (GRCm39) probably null Het
Mgat5 G A 1: 127,396,986 (GRCm39) V578M probably damaging Het
Mis18bp1 G A 12: 65,208,209 (GRCm39) T168M probably benign Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Myom1 T C 17: 71,379,114 (GRCm39) V626A probably damaging Het
Naa80 C T 9: 107,460,818 (GRCm39) R238C probably damaging Het
Ncam1 T C 9: 49,418,921 (GRCm39) probably benign Het
Nlrp2 A T 7: 5,301,858 (GRCm39) F211L probably benign Het
Or10a49 A T 7: 108,467,993 (GRCm39) F123I probably damaging Het
Or10q12 T A 19: 13,746,126 (GRCm39) M140K probably damaging Het
Or2ad1 T A 13: 21,326,450 (GRCm39) Y259F probably damaging Het
Osbpl11 G A 16: 33,054,863 (GRCm39) V649I probably benign Het
Oscar A T 7: 3,619,016 (GRCm39) probably null Het
Pax8 T A 2: 24,331,652 (GRCm39) M144L probably benign Het
Pcnt T C 10: 76,205,688 (GRCm39) T2555A probably benign Het
Plat T A 8: 23,258,466 (GRCm39) I23K probably benign Het
Plpp2 G A 10: 79,366,763 (GRCm39) T51M probably damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Prl7c1 T C 13: 27,957,742 (GRCm39) M233V probably benign Het
Prox1 A C 1: 189,894,319 (GRCm39) F42C probably damaging Het
Pwwp2b A T 7: 138,835,978 (GRCm39) Q473L possibly damaging Het
Rims4 A T 2: 163,707,443 (GRCm39) N127K probably null Het
Scn1a T C 2: 66,158,820 (GRCm39) T367A possibly damaging Het
Slc23a2 A G 2: 131,898,800 (GRCm39) I579T possibly damaging Het
Sp9 T C 2: 73,103,962 (GRCm39) V172A possibly damaging Het
Spta1 T A 1: 174,003,396 (GRCm39) L109Q probably damaging Het
Tcstv2c T C 13: 120,616,206 (GRCm39) V15A probably damaging Het
Tnrc18 A T 5: 142,750,932 (GRCm39) M1216K unknown Het
Tpst2 T A 5: 112,457,687 (GRCm39) Y69* probably null Het
Tpx2 C A 2: 152,735,535 (GRCm39) A721E probably benign Het
Trmt1l A G 1: 151,330,755 (GRCm39) T591A probably benign Het
Tubgcp4 T A 2: 121,015,330 (GRCm39) probably benign Het
Ubiad1 T C 4: 148,528,556 (GRCm39) T118A possibly damaging Het
Unc13c T C 9: 73,424,566 (GRCm39) T2017A probably damaging Het
Vmn1r59 G T 7: 5,457,108 (GRCm39) N217K probably benign Het
Vmn2r87 T C 10: 130,308,367 (GRCm39) I624V probably damaging Het
Wdr4 A G 17: 31,718,129 (GRCm39) V315A probably benign Het
Xpo7 T C 14: 70,914,256 (GRCm39) probably null Het
Zfp827 T A 8: 79,787,403 (GRCm39) W190R probably damaging Het
Zfp971 A G 2: 177,674,940 (GRCm39) T180A probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Other mutations in Synj2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Synj2 APN 17 6,088,201 (GRCm39) missense possibly damaging 0.48
IGL01399:Synj2 APN 17 6,060,046 (GRCm39) missense probably damaging 1.00
IGL01793:Synj2 APN 17 6,088,321 (GRCm39) missense probably benign 0.01
IGL01793:Synj2 APN 17 6,077,500 (GRCm39) nonsense probably null
IGL02096:Synj2 APN 17 6,040,628 (GRCm39) missense probably damaging 1.00
IGL02115:Synj2 APN 17 6,067,865 (GRCm39) missense probably damaging 1.00
IGL02222:Synj2 APN 17 6,087,755 (GRCm39) missense probably benign 0.04
IGL02478:Synj2 APN 17 6,088,199 (GRCm39) missense probably benign 0.00
IGL02634:Synj2 APN 17 6,080,035 (GRCm39) missense probably damaging 1.00
IGL02652:Synj2 APN 17 6,067,868 (GRCm39) missense probably damaging 1.00
IGL02681:Synj2 APN 17 6,040,611 (GRCm39) missense probably damaging 1.00
IGL02719:Synj2 APN 17 6,047,192 (GRCm39) missense probably benign 0.02
IGL03253:Synj2 APN 17 6,053,434 (GRCm39) splice site probably null
IGL03365:Synj2 APN 17 6,069,679 (GRCm39) missense probably damaging 1.00
I2288:Synj2 UTSW 17 6,072,542 (GRCm39) splice site probably benign
I2289:Synj2 UTSW 17 6,072,542 (GRCm39) splice site probably benign
R0389:Synj2 UTSW 17 6,080,058 (GRCm39) missense probably benign 0.35
R0433:Synj2 UTSW 17 6,084,123 (GRCm39) missense probably damaging 1.00
R0530:Synj2 UTSW 17 6,058,380 (GRCm39) missense possibly damaging 0.88
R0539:Synj2 UTSW 17 6,047,163 (GRCm39) start codon destroyed probably null 0.63
R0556:Synj2 UTSW 17 6,088,230 (GRCm39) nonsense probably null
R1263:Synj2 UTSW 17 6,069,634 (GRCm39) missense probably damaging 0.99
R1443:Synj2 UTSW 17 6,073,940 (GRCm39) missense probably damaging 0.99
R1450:Synj2 UTSW 17 6,077,599 (GRCm39) splice site probably benign
R1532:Synj2 UTSW 17 6,084,194 (GRCm39) missense probably benign 0.00
R1542:Synj2 UTSW 17 6,075,292 (GRCm39) missense probably benign 0.01
R1809:Synj2 UTSW 17 6,076,826 (GRCm39) missense possibly damaging 0.95
R1875:Synj2 UTSW 17 6,078,825 (GRCm39) missense possibly damaging 0.69
R1897:Synj2 UTSW 17 6,072,412 (GRCm39) nonsense probably null
R1928:Synj2 UTSW 17 6,040,542 (GRCm39) missense probably damaging 0.99
R2008:Synj2 UTSW 17 6,047,221 (GRCm39) missense probably damaging 1.00
R2060:Synj2 UTSW 17 6,087,755 (GRCm39) missense probably benign 0.04
R2109:Synj2 UTSW 17 6,063,966 (GRCm39) missense probably benign 0.00
R2332:Synj2 UTSW 17 6,074,069 (GRCm39) missense probably damaging 0.99
R2413:Synj2 UTSW 17 6,078,849 (GRCm39) missense probably damaging 1.00
R3684:Synj2 UTSW 17 6,078,718 (GRCm39) missense probably damaging 0.97
R4111:Synj2 UTSW 17 6,058,240 (GRCm39) missense probably benign 0.02
R4113:Synj2 UTSW 17 6,058,240 (GRCm39) missense probably benign 0.02
R4654:Synj2 UTSW 17 6,063,813 (GRCm39) missense probably damaging 1.00
R4797:Synj2 UTSW 17 6,084,163 (GRCm39) missense probably damaging 1.00
R4812:Synj2 UTSW 17 6,060,939 (GRCm39) missense probably damaging 1.00
R4875:Synj2 UTSW 17 6,038,343 (GRCm39) intron probably benign
R5110:Synj2 UTSW 17 6,087,990 (GRCm39) missense probably benign 0.06
R5205:Synj2 UTSW 17 5,991,793 (GRCm39) missense probably damaging 1.00
R5504:Synj2 UTSW 17 6,086,750 (GRCm39) missense possibly damaging 0.85
R5593:Synj2 UTSW 17 6,088,390 (GRCm39) makesense probably null
R5690:Synj2 UTSW 17 6,085,802 (GRCm39) missense probably benign 0.00
R5870:Synj2 UTSW 17 6,088,128 (GRCm39) missense probably benign 0.00
R6084:Synj2 UTSW 17 6,088,373 (GRCm39) missense probably damaging 1.00
R6084:Synj2 UTSW 17 6,067,889 (GRCm39) missense probably damaging 0.98
R6158:Synj2 UTSW 17 6,036,487 (GRCm39) missense probably benign 0.00
R6159:Synj2 UTSW 17 6,036,327 (GRCm39) missense probably damaging 1.00
R6160:Synj2 UTSW 17 6,058,336 (GRCm39) missense possibly damaging 0.92
R6278:Synj2 UTSW 17 6,026,149 (GRCm39) missense probably damaging 1.00
R6406:Synj2 UTSW 17 6,069,846 (GRCm39) intron probably benign
R6531:Synj2 UTSW 17 6,084,114 (GRCm39) missense probably damaging 1.00
R6729:Synj2 UTSW 17 6,036,289 (GRCm39) start codon destroyed probably null 1.00
R6774:Synj2 UTSW 17 6,088,290 (GRCm39) missense possibly damaging 0.87
R6792:Synj2 UTSW 17 6,040,565 (GRCm39) missense probably benign 0.01
R6844:Synj2 UTSW 17 6,026,081 (GRCm39) missense probably damaging 0.96
R6865:Synj2 UTSW 17 6,067,844 (GRCm39) nonsense probably null
R7178:Synj2 UTSW 17 6,076,754 (GRCm39) missense possibly damaging 0.95
R7286:Synj2 UTSW 17 6,088,220 (GRCm39) missense possibly damaging 0.79
R7403:Synj2 UTSW 17 6,088,005 (GRCm39) missense possibly damaging 0.76
R7451:Synj2 UTSW 17 6,080,066 (GRCm39) missense possibly damaging 0.68
R7501:Synj2 UTSW 17 6,040,514 (GRCm39) missense possibly damaging 0.79
R7730:Synj2 UTSW 17 6,066,562 (GRCm39) missense probably benign 0.33
R7799:Synj2 UTSW 17 6,088,098 (GRCm39) missense probably benign 0.10
R7804:Synj2 UTSW 17 6,069,809 (GRCm39) missense unknown
R7841:Synj2 UTSW 17 6,094,419 (GRCm39) missense unknown
R8347:Synj2 UTSW 17 6,060,060 (GRCm39) missense probably damaging 1.00
R8358:Synj2 UTSW 17 6,074,080 (GRCm39) nonsense probably null
R8391:Synj2 UTSW 17 5,991,796 (GRCm39) missense probably damaging 0.99
R8725:Synj2 UTSW 17 6,088,015 (GRCm39) missense possibly damaging 0.48
R8787:Synj2 UTSW 17 6,036,514 (GRCm39) missense possibly damaging 0.57
R8877:Synj2 UTSW 17 6,087,941 (GRCm39) missense probably damaging 1.00
R9091:Synj2 UTSW 17 6,067,875 (GRCm39) missense possibly damaging 0.88
R9121:Synj2 UTSW 17 6,040,599 (GRCm39) missense probably damaging 1.00
R9147:Synj2 UTSW 17 6,084,172 (GRCm39) missense probably damaging 1.00
R9148:Synj2 UTSW 17 6,084,172 (GRCm39) missense probably damaging 1.00
R9270:Synj2 UTSW 17 6,067,875 (GRCm39) missense possibly damaging 0.88
R9489:Synj2 UTSW 17 6,063,794 (GRCm39) missense probably benign 0.00
R9605:Synj2 UTSW 17 6,063,794 (GRCm39) missense probably benign 0.00
R9720:Synj2 UTSW 17 6,040,584 (GRCm39) missense probably benign
R9773:Synj2 UTSW 17 6,094,232 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2017-04-14