Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Insyn2a'

345177

Institutional Source

Beutler Lab

Gene Symbol

Insyn2a

Ensembl Gene

ENSMUSG00000073805

Gene Name

inhibitory synaptic factor 2A

Synonyms

Fam196a, B830028B13Rik

MMRRC Submission

041885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134483655-134540159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134520270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 87 (Y87H)

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 damaging
Transcript: ENSMUST00000171394
AA Change: Y87H

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

SMART Domains

Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805
AA Change: Y87H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210617

Meta Mutation Damage Score

0.1161

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mipep	T	C	14: 61,140,865 (GRCm39)	C566R	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,711,743 (GRCm39)	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,823,540 (GRCm39)	K101*	probably null	Het
Snph	G	A	2: 151,436,434 (GRCm39)	Q96*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Taf1a	T	A	1: 183,181,752 (GRCm39)		probably benign	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp558	T	A	9: 18,367,577 (GRCm39)	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	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
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
R9230:Insyn2a	UTSW	7	134,520,439 (GRCm39)	nonsense	probably null
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'- ATCCTTCCTGCACTGCAAGG -3'
(R):5'- GATATGCCCTCGACCCTAAC -3'

Sequencing Primer
(F):5'- GAATCTGCTAGAAACCCATTGTTCTG -3'
(R):5'- TCGACCCTAACCGGCAG -3'

Posted On

2015-09-25