Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02132:Psd2'

281056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psd2

Ensembl Gene

ENSMUSG00000024347

Gene Name

pleckstrin and Sec7 domain containing 2

Synonyms

EFA6C, 6330404E20Rik

Accession Numbers

Genbank: NM_028707

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

35964830-36014715 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 36004756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115716] [ENSMUST00000175734] [ENSMUST00000176472] [ENSMUST00000176873] [ENSMUST00000177432]

AlphaFold

Q6P1I6

Predicted Effect

probably benign
Transcript: ENSMUST00000115716

SMART Domains

Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	461	4.69e-56	SMART
PH	510	624	4.35e-14	SMART
Blast:Sec7	653	705	4e-24	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175720

Predicted Effect

probably benign
Transcript: ENSMUST00000175734

SMART Domains

Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	462	4.1e-55	SMART
PH	511	625	1.9e-16	SMART
Blast:Sec7	654	706	4e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176472

SMART Domains

Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	461	4.69e-56	SMART
Pfam:PH_9	511	553	4.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176873

SMART Domains

Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	462	4.2e-55	SMART
PH	511	625	1.9e-16	SMART
Blast:Sec7	654	706	4e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177432

SMART Domains

Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	461	4.69e-56	SMART
PH	510	621	5.36e-14	SMART
Blast:Sec7	650	702	4e-24	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,778,730		probably benign	Het
4930432E11Rik	C	T	7: 29,563,279		noncoding transcript	Het
Adcy10	T	C	1: 165,572,543	V1507A	probably damaging	Het
Ap3b2	T	A	7: 81,460,998	M1010L	unknown	Het
Bmp10	T	C	6: 87,434,148	S308P	probably benign	Het
Cnih3	C	A	1: 181,454,709	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,699,859	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,404,607		probably benign	Het
Dcstamp	A	T	15: 39,754,532	E112D	probably damaging	Het
Fras1	C	T	5: 96,781,637	Q3967*	probably null	Het
Gcm1	C	A	9: 78,064,839	P354H	possibly damaging	Het
Gen1	A	G	12: 11,241,866	S706P	probably benign	Het
Glb1l3	G	T	9: 26,825,170	T532N	probably benign	Het
Gm5069	T	A	1: 180,327,307		probably benign	Het
Gzmc	A	C	14: 56,233,965	F40V	probably benign	Het
Itgb2	G	T	10: 77,550,061	C286F	probably damaging	Het
Jak3	A	G	8: 71,678,480	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,537,616	S184L	probably benign	Het
Myo1f	T	A	17: 33,579,971	N203K	probably benign	Het
Nrxn2	G	A	19: 6,472,276	G182R	probably damaging	Het
Olfr1000	A	C	2: 85,608,320	L197V	probably benign	Het
Olfr1208	A	G	2: 88,897,159	V146A	probably benign	Het
Olfr726	T	C	14: 50,084,486	N65S	probably damaging	Het
Otog	C	T	7: 46,305,479	S2692L	probably damaging	Het
Pde9a	C	T	17: 31,453,470	T34I	probably benign	Het
Phip	T	C	9: 82,881,341	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 99,071,377	V451A	probably benign	Het
Pycr2	T	C	1: 180,906,197	I118T	probably damaging	Het
Rnf17	T	G	14: 56,421,166	M104R	probably benign	Het
Rp1l1	T	C	14: 64,028,810	V615A	probably benign	Het
Sel1l3	T	A	5: 53,170,405	R511W	possibly damaging	Het
Sis	T	C	3: 72,947,471	N478D	probably benign	Het
Trps1	T	A	15: 50,822,278	S584C	probably damaging	Het
Vmn2r124	T	C	17: 18,064,229		probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zc3h13	T	C	14: 75,330,347	S1027P	probably benign	Het
Zfp644	A	T	5: 106,635,894	I929K	probably benign	Het

Other mutations in Psd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Psd2	APN	18	35980335	missense	probably benign	0.00
IGL01578:Psd2	APN	18	35979785	missense	probably damaging	1.00
IGL02086:Psd2	APN	18	36005906	missense	probably damaging	1.00
IGL02480:Psd2	APN	18	36006083	missense	probably damaging	1.00
IGL02726:Psd2	APN	18	35987302	critical splice donor site	probably null
Arachnida	UTSW	18	36006723	splice site	probably null
recluse	UTSW	18	35979711	missense	probably damaging	1.00
widow	UTSW	18	35980425	missense	probably damaging	0.99
3-1:Psd2	UTSW	18	35984401	missense	probably damaging	1.00
R0103:Psd2	UTSW	18	36004717	missense	probably damaging	1.00
R0103:Psd2	UTSW	18	36004717	missense	probably damaging	1.00
R0320:Psd2	UTSW	18	35979644	missense	probably damaging	1.00
R0573:Psd2	UTSW	18	35980493	splice site	probably benign
R0685:Psd2	UTSW	18	36002991	missense	possibly damaging	0.90
R0698:Psd2	UTSW	18	36012711	missense	probably benign	0.22
R0730:Psd2	UTSW	18	35978574	missense	possibly damaging	0.85
R0971:Psd2	UTSW	18	35979786	missense	probably damaging	1.00
R1085:Psd2	UTSW	18	36012777	missense	probably benign	0.10
R1535:Psd2	UTSW	18	36005790	missense	probably benign	0.31
R2056:Psd2	UTSW	18	36006691	missense	possibly damaging	0.60
R4011:Psd2	UTSW	18	35987247	missense	probably benign	0.01
R4246:Psd2	UTSW	18	36006119	missense	probably damaging	1.00
R4335:Psd2	UTSW	18	36007530	missense	probably damaging	0.96
R4584:Psd2	UTSW	18	36012828	missense	probably benign
R4942:Psd2	UTSW	18	35978664	missense	probably damaging	1.00
R5120:Psd2	UTSW	18	35979810	missense	possibly damaging	0.92
R5373:Psd2	UTSW	18	36007503	missense	probably damaging	1.00
R5374:Psd2	UTSW	18	36007503	missense	probably damaging	1.00
R5839:Psd2	UTSW	18	36007524	missense	probably damaging	0.97
R6200:Psd2	UTSW	18	36006723	splice site	probably null
R6925:Psd2	UTSW	18	35979711	missense	probably damaging	1.00
R6967:Psd2	UTSW	18	35980332	missense	probably damaging	0.97
R7074:Psd2	UTSW	18	36010684	missense	probably benign	0.03
R7142:Psd2	UTSW	18	35980044	missense	possibly damaging	0.85
R7239:Psd2	UTSW	18	35980419	missense	probably damaging	1.00
R7348:Psd2	UTSW	18	35980336	missense	possibly damaging	0.85
R7581:Psd2	UTSW	18	35979997	missense	probably benign	0.01
R7793:Psd2	UTSW	18	36002979	missense	probably benign	0.37
R8221:Psd2	UTSW	18	35980425	missense	probably damaging	0.99
R8310:Psd2	UTSW	18	35979713	missense	probably damaging	1.00
R8939:Psd2	UTSW	18	35988239	missense	probably damaging	0.98
R9463:Psd2	UTSW	18	36010745	missense	probably damaging	0.98
X0065:Psd2	UTSW	18	36002942	missense	possibly damaging	0.92
Z1177:Psd2	UTSW	18	35978280	critical splice acceptor site	probably null

Posted On

2015-04-16