Mutagenetix > Incidental Mutation

Incidental Mutation 'R9121:Synj2'

692798

Institutional Source

Beutler Lab

Gene Symbol

Synj2

Ensembl Gene

ENSMUSG00000023805

Gene Name

synaptojanin 2

Synonyms

SJ2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R9121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5991555-6094565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6040599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 225 (D225V)

Ref Sequence

ENSEMBL: ENSMUSP00000111457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000115790] [ENSMUST00000115791] [ENSMUST00000134767] [ENSMUST00000142409]

AlphaFold

Q9D2G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000061091
AA Change: D140V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805
AA Change: D140V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000080283
AA Change: D225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: D225V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000115790
AA Change: D140V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: D140V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000115791
AA Change: D225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: D225V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	108	2.5e-28	PFAM
Blast:IPPc	239	268	2e-6	BLAST
IPPc	288	630	3.72e-128	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (44/44)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,820,078 (GRCm39)	N720K	probably benign	Het
Ampd1	C	T	3: 103,005,998 (GRCm39)	Q603*	probably null	Het
Arap2	G	A	5: 62,906,326 (GRCm39)	T231M	possibly damaging	Het
Atp2b4	TCT	TCTGCT	1: 133,629,463 (GRCm39)		probably benign	Het
Cap1	C	T	4: 122,761,516 (GRCm39)	R122Q	probably damaging	Het
Cdh10	G	A	15: 19,011,074 (GRCm39)	V586M	probably damaging	Het
Clvs2	A	T	10: 33,389,331 (GRCm39)	V303E	possibly damaging	Het
Cnnm3	C	A	1: 36,563,158 (GRCm39)	C707*	probably null	Het
Crtc3	A	G	7: 80,242,323 (GRCm39)	F497L	probably damaging	Het
Csmd3	T	C	15: 47,683,774 (GRCm39)	Y949C		Het
D5Ertd579e	A	T	5: 36,772,778 (GRCm39)	I539N	probably damaging	Het
Dctpp1	T	C	7: 126,856,456 (GRCm39)	R89G	probably damaging	Het
Dnah7c	T	A	1: 46,704,650 (GRCm39)	V2221E	probably damaging	Het
Dnah7c	C	A	1: 46,816,896 (GRCm39)	L3628I	probably benign	Het
E030025P04Rik	A	G	11: 109,034,738 (GRCm39)	F50S	unknown	Het
Edrf1	CGG	CG	7: 133,258,770 (GRCm39)		probably null	Het
Epb41l1	T	G	2: 156,364,487 (GRCm39)	S999A	probably benign	Het
Fbxw10	T	A	11: 62,738,153 (GRCm39)	C16S	possibly damaging	Het
Fbxw19	G	A	9: 109,324,890 (GRCm39)	P9L	probably damaging	Het
Gpi1	A	T	7: 33,907,114 (GRCm39)	Y327N	probably damaging	Het
Hook3	A	G	8: 26,525,195 (GRCm39)	L637P	probably damaging	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Ighv1-56	T	A	12: 115,206,634 (GRCm39)	T47S	probably benign	Het
Iglc2	A	C	16: 19,017,294 (GRCm39)	C103G	probably damaging	Het
Mbd5	A	G	2: 49,148,102 (GRCm39)	T771A	possibly damaging	Het
Mcm2	C	A	6: 88,861,019 (GRCm39)	R893L	probably benign	Het
Mettl15	A	T	2: 109,104,948 (GRCm39)	V19E		Het
Mier2	G	A	10: 79,377,594 (GRCm39)	A453V		Het
Mlf1	T	C	3: 67,307,054 (GRCm39)	S255P	probably benign	Het
Obsl1	T	C	1: 75,482,636 (GRCm39)	D78G	possibly damaging	Het
Or5w14	T	A	2: 87,541,975 (GRCm39)	I92F	probably damaging	Het
Or8b55	T	A	9: 38,726,976 (GRCm39)	M59K	probably damaging	Het
Otof	T	C	5: 30,536,462 (GRCm39)	K1340E	probably benign	Het
Pla2g4c	A	G	7: 13,091,010 (GRCm39)	D589G	probably damaging	Het
Qrfpr	A	G	3: 36,235,156 (GRCm39)	V278A	probably damaging	Het
Qrich2	T	A	11: 116,347,272 (GRCm39)	H1184L	unknown	Het
Rnaset2a	A	G	17: 8,347,549 (GRCm39)	F250S	possibly damaging	Het
Sfrp5	T	C	19: 42,190,356 (GRCm39)	Y32C	probably damaging	Het
Slc44a3	A	G	3: 121,254,786 (GRCm39)	S611P	probably benign	Het
Slco1a1	C	A	6: 141,892,542 (GRCm39)		probably benign	Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Trim7	T	A	11: 48,740,674 (GRCm39)	L257Q	probably damaging	Het
Trpm8	T	A	1: 88,312,423 (GRCm39)	N1101K	probably benign	Het
Unc79	C	T	12: 102,968,095 (GRCm39)	T107M	probably damaging	Het
Usp54	A	G	14: 20,631,523 (GRCm39)		probably null	Het
Zzef1	T	A	11: 72,756,946 (GRCm39)	Y1150*	probably null	Het

Other mutations in Synj2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TATTGCATGTGCCTCTGCGG -3'
(R):5'- TGGACACGCAGACTTTGTG -3'

Sequencing Primer
(F):5'- GCAGCACCAGGTGAACTGTC -3'
(R):5'- AGACTTTGTGTGCCCCGGTAC -3'

Posted On

2021-12-30