Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Insyn2b'

599756

Institutional Source

Beutler Lab

Gene Symbol

Insyn2b

Ensembl Gene

ENSMUSG00000069911

Gene Name

inhibitory synaptic factor family member 2B

Synonyms

Fam196b, Gm6041

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

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

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34264822-34372642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34352537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 193 (M193K)

Ref Sequence

ENSEMBL: ENSMUSP00000090883 (fasta)

Gene Model

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

AlphaFold

Q6GQV1

Predicted Effect

probably benign
Transcript: ENSMUST00000093192
AA Change: M193K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: M193K

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: M193K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: M193K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Anln	A	G	9: 22,263,333 (GRCm39)	S113P		Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 85,635,505 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Glmn	T	G	5: 107,696,941 (GRCm39)	N592T	probably benign	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,268,076 (GRCm39)	D149G	unknown	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or2j6	A	T	7: 139,980,610 (GRCm39)	Y116*	probably null	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,397,892 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,040,845 (GRCm39)	P703S	probably 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
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'- CGGCAACCTATCTGAACAGG -3'
(R):5'- TGTGCCCGGCATATTACTGG -3'

Sequencing Primer
(F):5'- GAACAGGATATTGTGTCCTCTGACC -3'
(R):5'- CGGCATATTACTGGCACTGC -3'

Posted On

2019-11-26