Mutagenetix > Incidental Mutation

Incidental Mutation 'R9230:Insyn2a'

700173

Institutional Source

Beutler Lab

Gene Symbol

Insyn2a

Ensembl Gene

ENSMUSG00000073805

Gene Name

inhibitory synaptic factor 2A

Synonyms

Fam196a, B830028B13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134483655-134540159 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 134520439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 30 (Y30*)

Ref Sequence

ENSEMBL: ENSMUSP00000129222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000171394]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084488

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325

Domain	Start	End	E-Value	Type
SH3	12	69	7.57e-17	SMART
Pfam:DOCK_N	72	416	1.7e-113	PFAM
Pfam:DOCK-C2	421	618	1.2e-61	PFAM
low complexity region	628	639	N/A	INTRINSIC
Pfam:DHR-2	1111	1610	3.3e-102	PFAM
low complexity region	1639	1664	N/A	INTRINSIC
low complexity region	1683	1701	N/A	INTRINSIC
low complexity region	1756	1773	N/A	INTRINSIC
low complexity region	1823	1857	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000171394
AA Change: Y30*

SMART Domains

Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805
AA Change: Y30*

Domain	Start	End	E-Value	Type
Pfam:FAM196	1	470	4.7e-205	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Aen	T	A	7: 78,552,107 (GRCm39)	D22E	probably damaging	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Bsn	T	C	9: 107,989,459 (GRCm39)	T2098A	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Csgalnact2	A	G	6: 118,103,212 (GRCm39)	L250P	probably damaging	Het
Cyp4a31	G	T	4: 115,428,281 (GRCm39)	E326*	probably null	Het
Def8	A	G	8: 124,186,317 (GRCm39)	E352G	probably benign	Het
Dmbt1	A	G	7: 130,639,642 (GRCm39)	D60G	probably benign	Het
Dock3	A	G	9: 106,807,223 (GRCm39)	L1368P	probably damaging	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fbxo22	T	C	9: 55,116,442 (GRCm39)	L36P	probably damaging	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Gja8	C	T	3: 96,826,664 (GRCm39)	V333M	possibly damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa4	T	C	11: 53,171,466 (GRCm39)	E246G	probably benign	Het
Ibtk	A	G	9: 85,585,702 (GRCm39)		probably null	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Kctd14	C	G	7: 97,104,104 (GRCm39)	P53R	unknown	Het
Kndc1	A	T	7: 139,500,600 (GRCm39)	D655V	probably damaging	Het
Krt1c	A	C	15: 101,725,948 (GRCm39)	S197A	probably benign	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msantd5f6	C	T	4: 73,319,685 (GRCm39)	A264T	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Muc20	T	G	16: 32,613,584 (GRCm39)	T598P	probably damaging	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Nme8	T	G	13: 19,874,384 (GRCm39)	I139L	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Or51a25	C	A	7: 102,372,795 (GRCm39)	V301F	possibly damaging	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pi4ka	A	G	16: 17,099,788 (GRCm39)	I1945T		Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Slc18a2	T	C	19: 59,261,647 (GRCm39)	M178T	probably benign	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Slc9c1	T	C	16: 45,398,275 (GRCm39)	L680P	possibly damaging	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Topaz1	T	A	9: 122,596,097 (GRCm39)	M956K	probably benign	Het
Vmn2r56	T	A	7: 12,444,237 (GRCm39)	D465V	possibly damaging	Het
Xndc1	T	A	7: 101,722,476 (GRCm39)	V47E	probably damaging	Het

Other mutations in Insyn2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01504:Insyn2a	APN	7	134,519,669 (GRCm39)	missense	probably benign	0.15
IGL02380:Insyn2a	APN	7	134,500,873 (GRCm39)	critical splice donor site	probably null
R0557:Insyn2a	UTSW	7	134,520,434 (GRCm39)	missense	probably damaging	1.00
R1421:Insyn2a	UTSW	7	134,500,960 (GRCm39)	splice site	probably benign
R1691:Insyn2a	UTSW	7	134,520,015 (GRCm39)	missense	probably damaging	1.00
R1726:Insyn2a	UTSW	7	134,500,867 (GRCm39)	splice site	probably benign
R2045:Insyn2a	UTSW	7	134,520,159 (GRCm39)	missense	probably damaging	1.00
R2259:Insyn2a	UTSW	7	134,519,396 (GRCm39)	missense	probably damaging	1.00
R3078:Insyn2a	UTSW	7	134,519,750 (GRCm39)	missense	probably benign	0.15
R3851:Insyn2a	UTSW	7	134,486,255 (GRCm39)	missense	probably benign	0.23
R4619:Insyn2a	UTSW	7	134,520,270 (GRCm39)	missense	probably damaging	1.00
R4663:Insyn2a	UTSW	7	134,500,877 (GRCm39)	nonsense	probably null
R5024:Insyn2a	UTSW	7	134,520,207 (GRCm39)	missense	probably damaging	1.00
R5067:Insyn2a	UTSW	7	134,520,284 (GRCm39)	missense	probably benign	0.01
R5195:Insyn2a	UTSW	7	134,486,145 (GRCm39)	missense	probably damaging	1.00
R5708:Insyn2a	UTSW	7	134,520,525 (GRCm39)	missense	probably damaging	1.00
R6195:Insyn2a	UTSW	7	134,520,377 (GRCm39)	missense	probably damaging	1.00
R7151:Insyn2a	UTSW	7	134,520,374 (GRCm39)	missense	probably damaging	1.00
R7414:Insyn2a	UTSW	7	134,519,738 (GRCm39)	missense	probably benign	0.06
R7988:Insyn2a	UTSW	7	134,519,427 (GRCm39)	missense	probably damaging	1.00
R8930:Insyn2a	UTSW	7	134,500,881 (GRCm39)	missense	probably damaging	0.99
R8932:Insyn2a	UTSW	7	134,500,881 (GRCm39)	missense	probably damaging	0.99
R9586:Insyn2a	UTSW	7	134,520,180 (GRCm39)	missense	probably damaging	1.00
Z1176:Insyn2a	UTSW	7	134,520,435 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGATCTGGTGAGGTCTGCAC -3'
(R):5'- TTTGGCTGGACGTCCATTC -3'

Sequencing Primer
(F):5'- GCACTGTCATATACTTACGATAGGCC -3'
(R):5'- ATTCGGCCTCGTTTGCATG -3'

Posted On

2022-02-07