Mutagenetix > Incidental Mutations

Incidental Mutation 'R4335:Psd2'

323753

Institutional Source

Beutler Lab

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 #

R4335 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35964830-36014715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36007530 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 622 (A622S)

Ref Sequence

ENSEMBL: ENSMUSP00000111381 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115716
AA Change: A622S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: A622S

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

possibly damaging
Transcript: ENSMUST00000175734
AA Change: A623S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: A623S

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

possibly damaging
Transcript: ENSMUST00000176873
AA Change: A623S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: A623S

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

possibly damaging
Transcript: ENSMUST00000177432
AA Change: A619S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
AA Change: A619S

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,544,370	L710P	probably damaging	Het
Abca9	G	A	11: 110,152,017	T402M	probably damaging	Het
Apbb1ip	G	A	2: 22,871,562		probably null	Het
Armh1	A	T	4: 117,214,463	I308N	probably damaging	Het
Ceacam5	G	A	7: 17,752,129	R517Q	probably benign	Het
Clic4	C	T	4: 135,218,605	S167N	probably benign	Het
Ehbp1l1	A	T	19: 5,708,769	L1644Q	probably damaging	Het
Erh	A	G	12: 80,642,841	L3P	probably benign	Het
Fam71d	T	C	12: 78,712,232	S109P	possibly damaging	Het
Fbxw7	T	C	3: 84,972,495	C375R	probably damaging	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fsd2	A	T	7: 81,542,065	S521R	probably damaging	Het
Hace1	A	G	10: 45,709,961	Y865C	probably damaging	Het
Iqcf1	G	A	9: 106,501,873	R62H	possibly damaging	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Leng8	T	C	7: 4,147,038	Y781H	probably damaging	Het
Med8	G	T	4: 118,409,370		probably null	Het
Myo19	G	A	11: 84,908,288	A816T	probably benign	Het
Nat8f2	A	G	6: 85,868,251	L43P	probably damaging	Het
Omd	A	C	13: 49,590,236	D254A	probably benign	Het
Rnf207	G	A	4: 152,315,605		probably benign	Het
Rsbn1l	T	C	5: 20,908,193	I444V	probably null	Het
Rxfp1	A	G	3: 79,686,798		probably null	Het
Selenot	C	A	3: 58,585,301	R70S	possibly damaging	Het
Sox6	A	G	7: 115,512,724	S557P	probably benign	Het
Sp9	G	A	2: 73,274,289	V396M	probably damaging	Het
Ston1	T	C	17: 88,635,697	F177S	probably damaging	Het
Syne2	A	G	12: 76,028,092	E4602G	probably damaging	Het
Tbc1d19	A	G	5: 53,872,277	T327A	possibly damaging	Het
Tsga13	T	C	6: 30,900,045	D179G	probably damaging	Het
Wdr27	T	A	17: 14,920,756		probably null	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
IGL02132:Psd2	APN	18	36004756	splice site	probably benign
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
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
X0065:Psd2	UTSW	18	36002942	missense	possibly damaging	0.92
Z1177:Psd2	UTSW	18	35978280	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGTTCTGACCAGGCTCATTCAC -3'
(R):5'- AGAATAGCTCTCCTTCCCGG -3'

Sequencing Primer
(F):5'- AGGCTCATTCACCCACCTG -3'
(R):5'- GGTGTCCCTCAGCCCAGTAC -3'

Posted On

2015-06-24