Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Astn2'

64891

Institutional Source

Beutler Lab

Gene Symbol

Astn2

Ensembl Gene

ENSMUSG00000028373

Gene Name

astrotactin 2

Synonyms

1d8, Astnl

MMRRC Submission

038310-MU

Accession Numbers

Genbank: NM _019514.3, NM _207109.2; Ensembl: ENSMUST 00000068214, ENSMUST 00000084496

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R0015 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

65380803-66404611 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 66266382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081540 (fasta)

Gene Model

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

AlphaFold

Q80Z10

Predicted Effect

probably null
Transcript: ENSMUST00000068214

SMART Domains

Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373

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 null
Transcript: ENSMUST00000068214

SMART Domains

Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373

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 null
Transcript: ENSMUST00000068214

SMART Domains

Protein: ENSMUSP00000065786
Gene: ENSMUSG00000028373

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 null
Transcript: ENSMUST00000084496

SMART Domains

Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373

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

Predicted Effect

probably null
Transcript: ENSMUST00000084496

SMART Domains

Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373

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

Predicted Effect

probably null
Transcript: ENSMUST00000084496

SMART Domains

Protein: ENSMUSP00000081540
Gene: ENSMUSG00000028373

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

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,186,184	R408H	probably damaging	Het
A130050O07Rik	A	G	1: 137,928,656	Y23C	unknown	Het
Adcy3	G	A	12: 4,195,260		probably null	Het
Aldh6a1	G	A	12: 84,441,780	L86F	probably damaging	Het
Arl10	G	T	13: 54,575,957		probably benign	Het
Armc3	A	G	2: 19,296,321		probably null	Het
Cacna1d	G	A	14: 30,114,971	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682		probably benign	Het
Cdh5	C	T	8: 104,140,927	T612I	probably benign	Het
Cfap58	A	G	19: 48,029,100	M800V	probably benign	Het
Clrn1	A	T	3: 58,846,427	I171K	probably damaging	Het
Cnp	T	A	11: 100,578,908		probably null	Het
Col12a1	T	C	9: 79,651,385	T1933A	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666	S660G	probably benign	Het
Dync1i2	C	A	2: 71,214,484	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,477,557		probably benign	Het
Espn	T	C	4: 152,139,152	T188A	possibly damaging	Het
F2	T	C	2: 91,630,607	E260G	probably benign	Het
Fat4	T	A	3: 38,982,503	S3435T	probably damaging	Het
Fchsd1	A	G	18: 37,962,959	C533R	probably benign	Het
Fstl5	G	A	3: 76,322,191	V100M	probably damaging	Het
Gls2	T	G	10: 128,209,350	L572R	probably damaging	Het
Gm20939	A	T	17: 94,876,768	E281D	probably benign	Het
Gpr35	T	G	1: 92,983,232	L222W	probably damaging	Het
Hsf5	C	A	11: 87,657,335	H615N	probably benign	Het
Id2	C	T	12: 25,095,803	D70N	probably damaging	Het
Ints2	T	C	11: 86,249,287	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,662,773	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,303,005	T203A	probably damaging	Het
Lama4	C	T	10: 39,075,436	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,447,298	L226P	probably damaging	Het
Lifr	T	A	15: 7,188,186		probably null	Het
Lonp1	T	A	17: 56,618,406	Q462L	probably benign	Het
Lypd1	A	G	1: 125,910,438	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,326	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,484,858	D93V	probably benign	Het
Mdh1b	T	C	1: 63,721,800		probably benign	Het
Myh7b	C	T	2: 155,622,286	P569L	probably damaging	Het
Ncapd3	C	A	9: 27,051,809	A470E	probably damaging	Het
Ndrg2	A	G	14: 51,910,445		probably benign	Het
Nprl2	A	T	9: 107,544,419	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,791,750		probably benign	Het
Olfm2	T	C	9: 20,668,741	E268G	probably damaging	Het
Olfr884	T	A	9: 38,047,667	Y148*	probably null	Het
Pcf11	T	A	7: 92,658,317	H881L	probably benign	Het
Pde10a	A	G	17: 8,977,197	D640G	probably damaging	Het
Pde9a	G	A	17: 31,386,356		probably null	Het
Pianp	G	T	6: 125,001,540	G236V	probably damaging	Het
Polr2g	A	G	19: 8,793,652	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,661	S1085P	possibly damaging	Het
Pter	G	A	2: 13,001,000	G328D	probably damaging	Het
Rad51	T	A	2: 119,116,327	M5K	probably benign	Het
Rbm43	T	A	2: 51,925,667	I181F	probably benign	Het
Rgs12	T	C	5: 35,022,776		probably benign	Het
Rnf213	A	C	11: 119,441,606	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 22,535,345	A21E	probably damaging	Het
Stab2	A	G	10: 86,843,617	S2503P	probably benign	Het
Sv2b	A	T	7: 75,125,641	F479L	probably damaging	Het
Sybu	T	C	15: 44,673,500	R349G	probably damaging	Het
Tead3	T	C	17: 28,341,351	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,721,458	N307K	probably damaging	Het
Ubxn11	C	G	4: 134,116,025		probably null	Het
Ust	T	C	10: 8,330,065		probably benign	Het
Vmn2r116	T	A	17: 23,401,849	N852K	probably benign	Het
Zgrf1	T	C	3: 127,555,397		probably benign	Het

Other mutations in Astn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Astn2	APN	4	66185187	missense	unknown
IGL01657:Astn2	APN	4	65651949	missense	probably damaging	0.99
IGL01747:Astn2	APN	4	65794618	missense	probably benign	0.17
IGL02008:Astn2	APN	4	66059153	missense	probably damaging	1.00
IGL02215:Astn2	APN	4	66266234	missense	unknown
IGL02484:Astn2	APN	4	65992279	splice site	probably benign
IGL02494:Astn2	APN	4	65992348	missense	probably benign	0.23
IGL02792:Astn2	APN	4	65644821	missense	probably benign	0.32
IGL03248:Astn2	APN	4	65746293	splice site	probably benign
IGL03409:Astn2	APN	4	65435186	missense	possibly damaging	0.46
B6584:Astn2	UTSW	4	65992387	missense	probably damaging	0.99
R0015:Astn2	UTSW	4	66266382	critical splice acceptor site	probably null
R0092:Astn2	UTSW	4	66403982	missense	unknown
R0245:Astn2	UTSW	4	65794558	missense	probably damaging	0.99
R0528:Astn2	UTSW	4	65644882	splice site	probably benign
R0586:Astn2	UTSW	4	66185142	missense	unknown
R0652:Astn2	UTSW	4	65794558	missense	probably damaging	0.99
R0880:Astn2	UTSW	4	65648330	missense	probably damaging	0.99
R0931:Astn2	UTSW	4	65648293	missense	probably damaging	0.99
R1353:Astn2	UTSW	4	66266335	missense	unknown
R1700:Astn2	UTSW	4	65746354	nonsense	probably null
R1934:Astn2	UTSW	4	65435189	missense	probably damaging	0.99
R2017:Astn2	UTSW	4	65540941	missense	probably damaging	0.99
R2101:Astn2	UTSW	4	65581686	nonsense	probably null
R2158:Astn2	UTSW	4	66404254	missense	unknown
R2907:Astn2	UTSW	4	65644856	missense	possibly damaging	0.92
R2923:Astn2	UTSW	4	65913773	missense	probably damaging	1.00
R2938:Astn2	UTSW	4	65992313	missense	possibly damaging	0.92
R3033:Astn2	UTSW	4	65644706	missense	probably damaging	1.00
R3933:Astn2	UTSW	4	66403955	missense	unknown
R4151:Astn2	UTSW	4	65729320	critical splice donor site	probably null
R4230:Astn2	UTSW	4	65911682	missense	probably damaging	0.99
R4497:Astn2	UTSW	4	66119063	intron	probably benign
R4717:Astn2	UTSW	4	65644754	missense	possibly damaging	0.86
R4844:Astn2	UTSW	4	65644730	missense	possibly damaging	0.90
R4928:Astn2	UTSW	4	65729407	missense	probably damaging	0.98
R5374:Astn2	UTSW	4	65397005	missense	probably damaging	0.96
R5442:Astn2	UTSW	4	65581786	missense	possibly damaging	0.86
R5694:Astn2	UTSW	4	65950138	missense	probably damaging	1.00
R5756:Astn2	UTSW	4	66119188	intron	probably benign
R5763:Astn2	UTSW	4	65729331	missense	probably benign	0.14
R6089:Astn2	UTSW	4	65794573	missense	probably damaging	0.96
R6990:Astn2	UTSW	4	65992303	missense	possibly damaging	0.82
R7304:Astn2	UTSW	4	66185375	missense	unknown
R7325:Astn2	UTSW	4	65542669	missense	probably benign	0.33
R7356:Astn2	UTSW	4	66185266	missense	unknown
R7414:Astn2	UTSW	4	65540956	missense	possibly damaging	0.85
R7755:Astn2	UTSW	4	65794558	missense	probably damaging	0.99
R7887:Astn2	UTSW	4	65644866	missense	possibly damaging	0.51
R8027:Astn2	UTSW	4	65540971	missense	possibly damaging	0.86
R8046:Astn2	UTSW	4	66266350	nonsense	probably null
R8188:Astn2	UTSW	4	66059181	missense	unknown
R8271:Astn2	UTSW	4	65992426	missense	unknown
R8274:Astn2	UTSW	4	65651861	critical splice donor site	probably null
R8505:Astn2	UTSW	4	65381588	missense	unknown
R8815:Astn2	UTSW	4	65912597	missense	possibly damaging	0.96
R8989:Astn2	UTSW	4	65581653	missense	possibly damaging	0.53
R9013:Astn2	UTSW	4	65992347	missense	probably benign	0.23
R9127:Astn2	UTSW	4	66403927	missense	unknown
R9255:Astn2	UTSW	4	65644848	nonsense	probably null
R9297:Astn2	UTSW	4	65542723	missense	possibly damaging	0.85
R9320:Astn2	UTSW	4	66404149	missense	unknown
R9349:Astn2	UTSW	4	66266255	missense	unknown
R9399:Astn2	UTSW	4	65746351	missense	possibly damaging	0.71
R9572:Astn2	UTSW	4	65381635	missense	unknown
R9573:Astn2	UTSW	4	65648354	missense	probably benign	0.08
R9674:Astn2	UTSW	4	65542726	missense	probably damaging	0.98
R9722:Astn2	UTSW	4	65913741	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CATGCTCAGGTACTCACCATCACAG -3'
(R):5'- TGAAGATCAAGTGTTGCCTCTCGTC -3'

Sequencing Primer
(F):5'- TCACCATCACAGAAATGTGGAG -3'
(R):5'- CGTCTTGTGTTACTTGAGAAATATCG -3'

Posted On

2013-08-06