Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Insyn2b'

680385

Institutional Source

Beutler Lab

Gene Symbol

Insyn2b

Ensembl Gene

ENSMUSG00000069911

Gene Name

inhibitory synaptic factor family member 2B

Synonyms

Fam196b, Gm6041

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

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

Stock #

R8932 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34264822-34372642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34352707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 250 (S250P)

Ref Sequence

ENSEMBL: ENSMUSP00000129183 (fasta)

Gene Model

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

AlphaFold

Q6GQV1

Predicted Effect

probably benign
Transcript: ENSMUST00000093192
AA Change: S250P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: S250P

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

probably benign
Transcript: ENSMUST00000165963
AA Change: S250P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: S250P

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Bckdk	A	G	7: 127,507,182 (GRCm39)	D312G	probably benign	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,057,293 (GRCm39)	D293E	probably damaging	Het
Epb42	T	C	2: 120,854,767 (GRCm39)	D606G	probably benign	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,185,030 (GRCm39)	S932C	probably damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Rbm12b1	C	T	4: 12,145,689 (GRCm39)	R554C	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Vps33b	T	C	7: 79,932,241 (GRCm39)	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zbtb7a	C	A	10: 80,980,368 (GRCm39)	D187E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	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
R0317:Insyn2b	UTSW	11	34,352,826 (GRCm39)	missense	possibly damaging	0.94
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
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'- GTCCTCAGAGAAAGCCACAG -3'
(R):5'- AGATCTTCCTAGGTGGACTGG -3'

Sequencing Primer
(F):5'- GCCACAGCTGCTATTCAGG -3'
(R):5'- AGGCGAACTGTGAGTCCGTG -3'

Posted On

2021-08-31