Mutagenetix > Incidental Mutation

Incidental Mutation 'R0317:Insyn2b'

25473

Institutional Source

Beutler Lab

Gene Symbol

Insyn2b

Ensembl Gene

ENSMUSG00000069911

Gene Name

inhibitory synaptic factor family member 2B

Synonyms

Fam196b, Gm6041

MMRRC Submission

038527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34264822-34372642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34352826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 289 (D289E)

Ref Sequence

ENSEMBL: ENSMUSP00000129183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093192] [ENSMUST00000093193] [ENSMUST00000101364] [ENSMUST00000101365] [ENSMUST00000165963]

AlphaFold

Q6GQV1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093192
AA Change: D289E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: D289E

Domain	Start	End	E-Value	Type
Pfam:FAM196	1	535	3.6e-196	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093193

SMART Domains

Protein: ENSMUSP00000090884
Gene: ENSMUSG00000020143

Domain	Start	End	E-Value	Type
SH3	11	68	1.22e-11	SMART
Pfam:DOCK_N	71	414	2e-113	PFAM
Pfam:DOCK-C2	419	616	1e-60	PFAM
Pfam:DHR-2	1114	1614	6.3e-96	PFAM
low complexity region	1691	1706	N/A	INTRINSIC
low complexity region	1793	1800	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101364

Predicted Effect

probably benign
Transcript: ENSMUST00000101365

SMART Domains

Protein: ENSMUSP00000098916
Gene: ENSMUSG00000020143

Domain	Start	End	E-Value	Type
SH3	11	68	1.22e-11	SMART
Pfam:DOCK_N	71	414	1.4e-113	PFAM
Pfam:DOCK-C2	419	616	5.5e-61	PFAM
low complexity region	1163	1171	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165963
AA Change: D289E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: D289E

Domain	Start	End	E-Value	Type
Pfam:FAM196	3	535	1.3e-168	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,459 (GRCm39)	V1774A	probably damaging	Het
Adam34	G	A	8: 44,105,288 (GRCm39)	P119L	probably benign	Het
Ap3b2	T	C	7: 81,113,429 (GRCm39)		probably null	Het
Arfip2	G	A	7: 105,286,430 (GRCm39)	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,330,965 (GRCm39)	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,122,697 (GRCm39)		probably null	Het
Cab39	A	G	1: 85,776,881 (GRCm39)	E322G	probably damaging	Het
Cad	C	A	5: 31,229,665 (GRCm39)	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,864,243 (GRCm39)		probably null	Het
Cela2a	A	T	4: 141,549,011 (GRCm39)		probably null	Het
Cert1	C	T	13: 96,770,629 (GRCm39)	R487*	probably null	Het
Ces1e	A	C	8: 93,950,667 (GRCm39)	I38S	probably benign	Het
Ces1f	A	T	8: 93,990,019 (GRCm39)	F364I	probably benign	Het
Chgb	A	G	2: 132,635,731 (GRCm39)	T558A	probably benign	Het
Cnpy4	C	T	5: 138,191,074 (GRCm39)	Q217*	probably null	Het
Crlf1	A	G	8: 70,951,249 (GRCm39)	T43A	probably benign	Het
Dnah7b	T	A	1: 46,173,816 (GRCm39)	M707K	probably damaging	Het
Ets2	G	A	16: 95,513,193 (GRCm39)	S123N	probably damaging	Het
Fry	T	C	5: 150,394,933 (GRCm39)	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,745 (GRCm39)	R120H	probably benign	Het
Gbf1	A	G	19: 46,242,459 (GRCm39)	T96A	probably benign	Het
Ggn	T	A	7: 28,870,515 (GRCm39)	M1K	probably null	Het
Gm5239	A	G	18: 35,669,969 (GRCm39)	T112A	probably benign	Het
Kifbp	A	T	10: 62,413,861 (GRCm39)		probably null	Het
Lrrc15	A	T	16: 30,092,561 (GRCm39)	H259Q	probably benign	Het
Lysmd4	A	G	7: 66,876,045 (GRCm39)	Y236C	probably damaging	Het
Med29	T	C	7: 28,086,284 (GRCm39)	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,193,633 (GRCm39)	D68Y	probably damaging	Het
Myh1	T	C	11: 67,108,338 (GRCm39)	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,636,388 (GRCm39)		probably null	Het
Or8g30	A	G	9: 39,230,757 (GRCm39)	I51T	probably benign	Het
Pdhx	A	G	2: 102,858,625 (GRCm39)	V393A	probably benign	Het
Pgm5	A	G	19: 24,801,763 (GRCm39)	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,023 (GRCm39)	I889F	probably benign	Het
Phactr4	T	A	4: 132,114,241 (GRCm39)	K51I	probably damaging	Het
Pum2	T	A	12: 8,778,754 (GRCm39)	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,632,835 (GRCm39)	S24P	probably damaging	Het
Rasef	T	C	4: 73,666,799 (GRCm39)	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,813,772 (GRCm39)	D339G	probably benign	Het
Recql5	A	G	11: 115,785,499 (GRCm39)	S666P	probably benign	Het
Rfc1	A	T	5: 65,453,395 (GRCm39)		probably null	Het
Scarb1	A	G	5: 125,366,756 (GRCm39)	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,837,182 (GRCm39)	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,335,584 (GRCm39)	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,154,174 (GRCm39)	Y104D	probably damaging	Het
Suz12	T	A	11: 79,889,904 (GRCm39)	D13E	probably damaging	Het
Tlr1	G	T	5: 65,083,310 (GRCm39)	C422*	probably null	Het
Tmco1	T	C	1: 167,153,462 (GRCm39)	V114A	probably damaging	Het
Trpa1	T	C	1: 14,951,856 (GRCm39)	T948A	probably benign	Het
Tub	A	T	7: 108,620,134 (GRCm39)	N93Y	probably damaging	Het
Ufsp2	G	A	8: 46,445,270 (GRCm39)		probably null	Het
Veph1	T	C	3: 66,079,396 (GRCm39)	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,805,130 (GRCm39)	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,240 (GRCm39)	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,901,583 (GRCm39)	S480G	probably benign	Het
Wnk4	T	C	11: 101,159,630 (GRCm39)	S612P	probably benign	Het
Zfp503	T	C	14: 22,036,527 (GRCm39)	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602 (GRCm39)	C628Y	possibly damaging	Het

Other mutations in Insyn2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Insyn2b	APN	11	34,353,011 (GRCm39)	missense	probably benign
IGL01867:Insyn2b	APN	11	34,353,065 (GRCm39)	missense	probably benign	0.39
PIT4677001:Insyn2b	UTSW	11	34,353,122 (GRCm39)	missense	probably benign
R1165:Insyn2b	UTSW	11	34,352,740 (GRCm39)	missense	probably benign
R1710:Insyn2b	UTSW	11	34,354,263 (GRCm39)	splice site	probably null
R2083:Insyn2b	UTSW	11	34,352,141 (GRCm39)	missense	probably benign	0.01
R2096:Insyn2b	UTSW	11	34,352,936 (GRCm39)	missense	probably benign	0.03
R3820:Insyn2b	UTSW	11	34,353,007 (GRCm39)	missense	probably benign	0.01
R3821:Insyn2b	UTSW	11	34,353,007 (GRCm39)	missense	probably benign	0.01
R3822:Insyn2b	UTSW	11	34,353,007 (GRCm39)	missense	probably benign	0.01
R3969:Insyn2b	UTSW	11	34,369,739 (GRCm39)	missense	probably damaging	0.99
R3970:Insyn2b	UTSW	11	34,369,739 (GRCm39)	missense	probably damaging	0.99
R3980:Insyn2b	UTSW	11	34,352,678 (GRCm39)	missense	probably benign	0.00
R4092:Insyn2b	UTSW	11	34,351,935 (GRCm39)	start gained	probably benign
R4231:Insyn2b	UTSW	11	34,353,143 (GRCm39)	missense	probably benign	0.01
R4678:Insyn2b	UTSW	11	34,353,227 (GRCm39)	missense	probably damaging	1.00
R4859:Insyn2b	UTSW	11	34,353,154 (GRCm39)	missense	probably benign	0.31
R4938:Insyn2b	UTSW	11	34,352,231 (GRCm39)	missense	probably damaging	0.98
R5269:Insyn2b	UTSW	11	34,352,788 (GRCm39)	missense	probably damaging	1.00
R5287:Insyn2b	UTSW	11	34,353,058 (GRCm39)	missense	probably benign	0.12
R5358:Insyn2b	UTSW	11	34,352,788 (GRCm39)	missense	probably damaging	1.00
R5359:Insyn2b	UTSW	11	34,352,788 (GRCm39)	missense	probably damaging	1.00
R5361:Insyn2b	UTSW	11	34,352,788 (GRCm39)	missense	probably damaging	1.00
R5362:Insyn2b	UTSW	11	34,352,788 (GRCm39)	missense	probably damaging	1.00
R5363:Insyn2b	UTSW	11	34,352,788 (GRCm39)	missense	probably damaging	1.00
R5403:Insyn2b	UTSW	11	34,353,058 (GRCm39)	missense	probably benign	0.12
R5705:Insyn2b	UTSW	11	34,354,349 (GRCm39)	missense	probably damaging	1.00
R6282:Insyn2b	UTSW	11	34,352,819 (GRCm39)	missense	possibly damaging	0.77
R7030:Insyn2b	UTSW	11	34,352,030 (GRCm39)	missense	probably damaging	0.96
R7069:Insyn2b	UTSW	11	34,352,677 (GRCm39)	missense	possibly damaging	0.48
R7178:Insyn2b	UTSW	11	34,352,359 (GRCm39)	missense	probably damaging	0.96
R7180:Insyn2b	UTSW	11	34,369,873 (GRCm39)	missense	probably damaging	1.00
R7718:Insyn2b	UTSW	11	34,352,539 (GRCm39)	missense	probably benign	0.00
R7789:Insyn2b	UTSW	11	34,352,537 (GRCm39)	missense	probably benign
R7832:Insyn2b	UTSW	11	34,353,034 (GRCm39)	missense	probably benign
R8377:Insyn2b	UTSW	11	34,351,964 (GRCm39)	missense	probably damaging	1.00
R8930:Insyn2b	UTSW	11	34,352,707 (GRCm39)	missense	probably benign	0.00
R8932:Insyn2b	UTSW	11	34,352,707 (GRCm39)	missense	probably benign	0.00
R9407:Insyn2b	UTSW	11	34,352,072 (GRCm39)	missense	probably damaging	0.99
Z1177:Insyn2b	UTSW	11	34,353,188 (GRCm39)	missense	probably damaging	1.00
Z1177:Insyn2b	UTSW	11	34,352,725 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGCTTTGATCTCCATGTGTCCAGG -3'
(R):5'- AGTTGCTCACTTCCAACACCAGTC -3'

Sequencing Primer
(F):5'- CATGTGTCCAGGGGATGG -3'
(R):5'- AGACTTGGATGCACTGCTAC -3'

Posted On

2013-04-16