Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02494:Astn2'

295783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Astn2

Ensembl Gene

ENSMUSG00000028373

Gene Name

astrotactin 2

Synonyms

1d8, Astnl

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

65299040-66322774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65910585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 468 (M468L)

Ref Sequence

ENSEMBL: ENSMUSP00000065786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068214] [ENSMUST00000084496]

AlphaFold

Q80Z10

Predicted Effect

probably benign
Transcript: ENSMUST00000068214
AA Change: M468L

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373
AA Change: M468L

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	87	127	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	303	312	N/A	INTRINSIC
low complexity region	342	361	N/A	INTRINSIC
low complexity region	393	404	N/A	INTRINSIC
low complexity region	432	437	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC
EGF_like	526	563	2.92e1	SMART
Blast:EGF_like	667	708	2e-18	BLAST
EGF_like	715	764	4.03e1	SMART
MACPF	864	1048	2.88e-55	SMART
FN3	1079	1191	2.41e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084496
AA Change: M416L

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

SMART Domains

Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373
AA Change: M416L

Domain	Start	End	E-Value	Type
signal peptide	1	51	N/A	INTRINSIC
low complexity region	87	127	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
low complexity region	303	312	N/A	INTRINSIC
low complexity region	341	352	N/A	INTRINSIC
low complexity region	380	385	N/A	INTRINSIC
transmembrane domain	391	413	N/A	INTRINSIC
EGF_like	474	511	2.92e1	SMART
Blast:EGF_like	615	656	2e-18	BLAST
EGF_like	663	712	4.03e1	SMART
MACPF	812	996	2.88e-55	SMART
FN3	1027	1139	2.41e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138 (GRCm39)	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,198,697 (GRCm39)	R242G	probably benign	Het
Ash1l	T	A	3: 88,973,525 (GRCm39)	L2528*	probably null	Het
Bglap2	A	T	3: 88,285,243 (GRCm39)	C74*	probably null	Het
Cand1	A	G	10: 119,049,522 (GRCm39)	V408A	probably benign	Het
Ccdc14	A	G	16: 34,543,784 (GRCm39)	Y714C	probably damaging	Het
Ccdc88c	C	T	12: 100,911,734 (GRCm39)	G707D	probably benign	Het
Cdk13	G	A	13: 17,913,710 (GRCm39)	R890*	probably null	Het
Cep192	A	G	18: 67,937,453 (GRCm39)	E61G	probably benign	Het
Ctdspl	T	C	9: 118,866,484 (GRCm39)	L181P	probably damaging	Het
Dock7	C	T	4: 98,877,471 (GRCm39)	V442M	probably benign	Het
Dop1a	T	C	9: 86,408,871 (GRCm39)	V1860A	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fscn2	G	A	11: 120,253,228 (GRCm39)	V232M	probably benign	Het
Gemin5	A	T	11: 58,012,583 (GRCm39)	C1458S	probably benign	Het
Glrb	A	G	3: 80,752,539 (GRCm39)	V408A	probably benign	Het
Gtse1	C	T	15: 85,751,704 (GRCm39)	P299L	probably damaging	Het
Hcfc1r1	T	A	17: 23,893,559 (GRCm39)	M46K	probably damaging	Het
Hdc	A	G	2: 126,436,041 (GRCm39)	F610S	probably benign	Het
Hip1	A	T	5: 135,473,645 (GRCm39)	C224*	probably null	Het
Hsd17b10	G	T	X: 150,787,230 (GRCm39)	A241S	probably benign	Het
Igsf10	G	T	3: 59,235,427 (GRCm39)	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,960,233 (GRCm39)	Y514H	probably damaging	Het
Krt78	T	C	15: 101,862,486 (GRCm39)	I58M	probably benign	Het
Lcat	C	A	8: 106,668,571 (GRCm39)		probably benign	Het
Naca	G	A	10: 127,877,179 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,712,772 (GRCm39)	K2102E	probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or1e35	A	C	11: 73,797,550 (GRCm39)	I256S	possibly damaging	Het
Or4b1b	G	A	2: 90,112,295 (GRCm39)	S208F	probably benign	Het
Or4n4	A	T	14: 50,519,683 (GRCm39)	V9D	probably damaging	Het
Or7c19	C	A	8: 85,957,312 (GRCm39)	L63I	possibly damaging	Het
Patj	T	A	4: 98,592,224 (GRCm39)		probably benign	Het
Pcdhb17	G	A	18: 37,618,347 (GRCm39)	A46T	possibly damaging	Het
Phf8	T	C	X: 150,408,227 (GRCm39)	V859A	probably benign	Het
Plec	T	A	15: 76,060,979 (GRCm39)	E3054V	probably damaging	Het
Prr12	C	A	7: 44,678,270 (GRCm39)	K1958N	unknown	Het
Psmf1	A	G	2: 151,582,929 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,222,002 (GRCm39)		probably null	Het
Samm50	T	C	15: 84,080,015 (GRCm39)	V31A	probably benign	Het
St14	A	G	9: 31,019,941 (GRCm39)	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,590,360 (GRCm39)	N699S	probably damaging	Het
Ttn	A	T	2: 76,574,144 (GRCm39)	M25583K	probably damaging	Het
Utrn	A	G	10: 12,585,798 (GRCm39)	V993A	probably benign	Het

Other mutations in Astn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Astn2	APN	4	66,103,424 (GRCm39)	missense	unknown
IGL01657:Astn2	APN	4	65,570,186 (GRCm39)	missense	probably damaging	0.99
IGL01747:Astn2	APN	4	65,712,855 (GRCm39)	missense	probably benign	0.17
IGL02008:Astn2	APN	4	65,977,390 (GRCm39)	missense	probably damaging	1.00
IGL02215:Astn2	APN	4	66,184,471 (GRCm39)	missense	unknown
IGL02484:Astn2	APN	4	65,910,516 (GRCm39)	splice site	probably benign
IGL02792:Astn2	APN	4	65,563,058 (GRCm39)	missense	probably benign	0.32
IGL03248:Astn2	APN	4	65,664,530 (GRCm39)	splice site	probably benign
IGL03409:Astn2	APN	4	65,353,423 (GRCm39)	missense	possibly damaging	0.46
B6584:Astn2	UTSW	4	65,910,624 (GRCm39)	missense	probably damaging	0.99
R0015:Astn2	UTSW	4	66,184,619 (GRCm39)	critical splice acceptor site	probably null
R0015:Astn2	UTSW	4	66,184,619 (GRCm39)	critical splice acceptor site	probably null
R0092:Astn2	UTSW	4	66,322,219 (GRCm39)	missense	unknown
R0245:Astn2	UTSW	4	65,712,795 (GRCm39)	missense	probably damaging	0.99
R0528:Astn2	UTSW	4	65,563,119 (GRCm39)	splice site	probably benign
R0586:Astn2	UTSW	4	66,103,379 (GRCm39)	missense	unknown
R0652:Astn2	UTSW	4	65,712,795 (GRCm39)	missense	probably damaging	0.99
R0880:Astn2	UTSW	4	65,566,567 (GRCm39)	missense	probably damaging	0.99
R0931:Astn2	UTSW	4	65,566,530 (GRCm39)	missense	probably damaging	0.99
R1353:Astn2	UTSW	4	66,184,572 (GRCm39)	missense	unknown
R1700:Astn2	UTSW	4	65,664,591 (GRCm39)	nonsense	probably null
R1934:Astn2	UTSW	4	65,353,426 (GRCm39)	missense	probably damaging	0.99
R2017:Astn2	UTSW	4	65,459,178 (GRCm39)	missense	probably damaging	0.99
R2101:Astn2	UTSW	4	65,499,923 (GRCm39)	nonsense	probably null
R2158:Astn2	UTSW	4	66,322,491 (GRCm39)	missense	unknown
R2907:Astn2	UTSW	4	65,563,093 (GRCm39)	missense	possibly damaging	0.92
R2923:Astn2	UTSW	4	65,832,010 (GRCm39)	missense	probably damaging	1.00
R2938:Astn2	UTSW	4	65,910,550 (GRCm39)	missense	possibly damaging	0.92
R3033:Astn2	UTSW	4	65,562,943 (GRCm39)	missense	probably damaging	1.00
R3933:Astn2	UTSW	4	66,322,192 (GRCm39)	missense	unknown
R4151:Astn2	UTSW	4	65,647,557 (GRCm39)	critical splice donor site	probably null
R4230:Astn2	UTSW	4	65,829,919 (GRCm39)	missense	probably damaging	0.99
R4497:Astn2	UTSW	4	66,037,300 (GRCm39)	intron	probably benign
R4717:Astn2	UTSW	4	65,562,991 (GRCm39)	missense	possibly damaging	0.86
R4844:Astn2	UTSW	4	65,562,967 (GRCm39)	missense	possibly damaging	0.90
R4928:Astn2	UTSW	4	65,647,644 (GRCm39)	missense	probably damaging	0.98
R5374:Astn2	UTSW	4	65,315,242 (GRCm39)	missense	probably damaging	0.96
R5442:Astn2	UTSW	4	65,500,023 (GRCm39)	missense	possibly damaging	0.86
R5694:Astn2	UTSW	4	65,868,375 (GRCm39)	missense	probably damaging	1.00
R5756:Astn2	UTSW	4	66,037,425 (GRCm39)	intron	probably benign
R5763:Astn2	UTSW	4	65,647,568 (GRCm39)	missense	probably benign	0.14
R6089:Astn2	UTSW	4	65,712,810 (GRCm39)	missense	probably damaging	0.96
R6990:Astn2	UTSW	4	65,910,540 (GRCm39)	missense	possibly damaging	0.82
R7304:Astn2	UTSW	4	66,103,612 (GRCm39)	missense	unknown
R7325:Astn2	UTSW	4	65,460,906 (GRCm39)	missense	probably benign	0.33
R7356:Astn2	UTSW	4	66,103,503 (GRCm39)	missense	unknown
R7414:Astn2	UTSW	4	65,459,193 (GRCm39)	missense	possibly damaging	0.85
R7755:Astn2	UTSW	4	65,712,795 (GRCm39)	missense	probably damaging	0.99
R7887:Astn2	UTSW	4	65,563,103 (GRCm39)	missense	possibly damaging	0.51
R8027:Astn2	UTSW	4	65,459,208 (GRCm39)	missense	possibly damaging	0.86
R8046:Astn2	UTSW	4	66,184,587 (GRCm39)	nonsense	probably null
R8188:Astn2	UTSW	4	65,977,418 (GRCm39)	missense	unknown
R8271:Astn2	UTSW	4	65,910,663 (GRCm39)	missense	unknown
R8274:Astn2	UTSW	4	65,570,098 (GRCm39)	critical splice donor site	probably null
R8505:Astn2	UTSW	4	65,299,825 (GRCm39)	missense	unknown
R8815:Astn2	UTSW	4	65,830,834 (GRCm39)	missense	possibly damaging	0.96
R8989:Astn2	UTSW	4	65,499,890 (GRCm39)	missense	possibly damaging	0.53
R9013:Astn2	UTSW	4	65,910,584 (GRCm39)	missense	probably benign	0.23
R9127:Astn2	UTSW	4	66,322,164 (GRCm39)	missense	unknown
R9255:Astn2	UTSW	4	65,563,085 (GRCm39)	nonsense	probably null
R9297:Astn2	UTSW	4	65,460,960 (GRCm39)	missense	possibly damaging	0.85
R9320:Astn2	UTSW	4	66,322,386 (GRCm39)	missense	unknown
R9349:Astn2	UTSW	4	66,184,492 (GRCm39)	missense	unknown
R9399:Astn2	UTSW	4	65,664,588 (GRCm39)	missense	possibly damaging	0.71
R9572:Astn2	UTSW	4	65,299,872 (GRCm39)	missense	unknown
R9573:Astn2	UTSW	4	65,566,591 (GRCm39)	missense	probably benign	0.08
R9674:Astn2	UTSW	4	65,460,963 (GRCm39)	missense	probably damaging	0.98
R9722:Astn2	UTSW	4	65,831,978 (GRCm39)	missense	probably benign	0.33

Posted On

2015-04-16