Incidental Mutation 'R6865:Synj2'
ID 535883
Institutional Source Beutler Lab
Gene Symbol Synj2
Ensembl Gene ENSMUSG00000023805
Gene Name synaptojanin 2
Synonyms SJ2
MMRRC Submission 045027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R6865 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 5991555-6094565 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 6067844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 106 (Q106*)
Ref Sequence ENSEMBL: ENSMUSP00000122316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000115785] [ENSMUST00000115786] [ENSMUST00000115790] [ENSMUST00000115791] [ENSMUST00000134767] [ENSMUST00000142409] [ENSMUST00000154114]
AlphaFold Q9D2G5
Predicted Effect probably null
Transcript: ENSMUST00000061091
AA Change: Q543*
SMART Domains Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805
AA Change: Q543*

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 null
Transcript: ENSMUST00000080283
AA Change: Q628*
SMART Domains Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: Q628*

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 probably null
Transcript: ENSMUST00000115785
AA Change: Q312*
SMART Domains Protein: ENSMUSP00000111451
Gene: ENSMUSG00000023805
AA Change: Q312*

DomainStartEndE-ValueType
PDB:3LWT|X 9 171 4e-12 PDB
Blast:IPPc 163 192 2e-6 BLAST
IPPc 212 554 3.72e-128 SMART
DUF1866 547 692 1.04e-73 SMART
low complexity region 695 709 N/A INTRINSIC
low complexity region 734 745 N/A INTRINSIC
low complexity region 851 863 N/A INTRINSIC
low complexity region 901 918 N/A INTRINSIC
low complexity region 947 961 N/A INTRINSIC
low complexity region 977 990 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115786
AA Change: Q388*
SMART Domains Protein: ENSMUSP00000111452
Gene: ENSMUSG00000023805
AA Change: Q388*

DomainStartEndE-ValueType
Pfam:Syja_N 1 108 5.3e-29 PFAM
Blast:IPPc 239 268 1e-6 BLAST
IPPc 288 525 6e-18 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115790
AA Change: Q543*
SMART Domains Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: Q543*

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 null
Transcript: ENSMUST00000115791
AA Change: Q628*
SMART Domains Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: Q628*

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 null
Transcript: ENSMUST00000142409
AA Change: Q388*
SMART Domains Protein: ENSMUSP00000120006
Gene: ENSMUSG00000023805
AA Change: Q388*

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
Predicted Effect probably null
Transcript: ENSMUST00000154114
AA Change: Q106*
SMART Domains Protein: ENSMUSP00000122316
Gene: ENSMUSG00000023805
AA Change: Q106*

DomainStartEndE-ValueType
IPPc 6 348 3.72e-128 SMART
DUF1866 341 486 1.04e-73 SMART
low complexity region 489 503 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
low complexity region 645 657 N/A INTRINSIC
low complexity region 678 694 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,320,212 (GRCm39) M293L possibly damaging Het
Ankrd11 T C 8: 123,621,683 (GRCm39) D723G probably benign Het
Ankrd26 T C 6: 118,500,442 (GRCm39) R1010G possibly damaging Het
Apob G A 12: 8,058,847 (GRCm39) R2410H probably benign Het
Auh T C 13: 52,992,165 (GRCm39) D275G probably damaging Het
Card10 G T 15: 78,686,822 (GRCm39) D47E possibly damaging Het
Ccdc141 C T 2: 76,859,579 (GRCm39) probably null Het
Cfap206 T C 4: 34,714,448 (GRCm39) Y416C possibly damaging Het
Chuk A T 19: 44,075,354 (GRCm39) Y500* probably null Het
Cop1 T A 1: 159,136,524 (GRCm39) D536E probably damaging Het
Crh G C 3: 19,748,304 (GRCm39) P113A possibly damaging Het
Ddx54 T G 5: 120,759,892 (GRCm39) probably null Het
Efcab7 T C 4: 99,769,793 (GRCm39) S127P probably damaging Het
Efhc1 A G 1: 21,030,442 (GRCm39) Y125C probably damaging Het
Fga T A 3: 82,938,848 (GRCm39) C408S probably damaging Het
Flot2 T C 11: 77,940,318 (GRCm39) S22P probably benign Het
Fndc1 T A 17: 7,991,672 (GRCm39) T675S unknown Het
Foxc1 A G 13: 31,992,836 (GRCm39) D549G unknown Het
Gldc T C 19: 30,111,162 (GRCm39) N538S possibly damaging Het
Grk4 T G 5: 34,888,894 (GRCm39) V346G probably damaging Het
Gucy2c T C 6: 136,747,127 (GRCm39) R111G probably benign Het
Heatr6 C T 11: 83,659,966 (GRCm39) H504Y probably damaging Het
Lrp5 A T 19: 3,670,013 (GRCm39) probably null Het
Msrb1 T C 17: 24,955,685 (GRCm39) S2P possibly damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo3a A G 2: 22,464,313 (GRCm39) I185V probably benign Het
Myo5c T C 9: 75,176,878 (GRCm39) S608P probably benign Het
Nek6 A G 2: 38,459,678 (GRCm39) I174V probably benign Het
Nmt2 T C 2: 3,315,766 (GRCm39) V252A probably damaging Het
Nudt9 G T 5: 104,207,545 (GRCm39) R179M probably damaging Het
Nwd1 T C 8: 73,383,690 (GRCm39) V29A possibly damaging Het
Olah T C 2: 3,343,964 (GRCm39) D216G possibly damaging Het
Or13c7b T C 4: 43,821,346 (GRCm39) N5S probably benign Het
Or52n2 T C 7: 104,542,719 (GRCm39) I39V probably benign Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Pkd1 T C 17: 24,795,461 (GRCm39) V2318A probably benign Het
Pknox1 T A 17: 31,807,534 (GRCm39) M51K probably damaging Het
Ppp1r12a C T 10: 108,098,242 (GRCm39) R321* probably null Het
Pxdn A G 12: 30,064,582 (GRCm39) probably null Het
Rab44 A T 17: 29,358,201 (GRCm39) I130F probably benign Het
Rnf130 T C 11: 49,962,091 (GRCm39) I179T probably damaging Het
Slc22a28 A T 19: 8,041,856 (GRCm39) C450* probably null Het
Slco1c1 A T 6: 141,485,778 (GRCm39) Y136F probably damaging Het
Uckl1 T C 2: 181,216,286 (GRCm39) N138S probably damaging Het
Usp19 G T 9: 108,376,018 (GRCm39) E203* probably null Het
Vdr A G 15: 97,755,386 (GRCm39) I379T probably damaging Het
Zfp503 C A 14: 22,036,101 (GRCm39) G272C probably damaging Het
Zfyve9 T C 4: 108,501,558 (GRCm39) N1218S possibly damaging Het
Zzz3 T A 3: 152,133,690 (GRCm39) D249E 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
R4873:Synj2 UTSW 17 6,038,343 (GRCm39) intron probably benign
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
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 PCR Primer
(F):5'- TGTACAAGTCCACCAGAGGG -3'
(R):5'- CCCTGTTTCCTGCTGGAGTTAG -3'

Sequencing Primer
(F):5'- TCCACCAGAGGGATTGATGC -3'
(R):5'- CCTGCTGGAGTTAGGGGTC -3'
Posted On 2018-10-18