Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Psd2'

228226

Institutional Source

Beutler Lab

Gene Symbol

Psd2

Ensembl Gene

ENSMUSG00000024347

Gene Name

pleckstrin and Sec7 domain containing 2

Synonyms

EFA6C, 6330404E20Rik

MMRRC Submission

040061-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36097883-36147768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36139744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 596 (D596G)

Ref Sequence

ENSEMBL: ENSMUSP00000111381 (fasta)

Gene Model

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

AlphaFold

Q6P1I6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115716
AA Change: D596G

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: D596G

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: D597G

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: D597G

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: D597G

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: D597G

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: D593G

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
AA Change: D593G

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,809,553 (GRCm39)	I662V	possibly damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,016,592 (GRCm39)	L132P	possibly damaging	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mcoln3	A	G	3: 145,833,979 (GRCm39)	D173G	probably benign	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	probably damaging	Het

Other mutations in Psd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Psd2	APN	18	36,113,388 (GRCm39)	missense	probably benign	0.00
IGL01578:Psd2	APN	18	36,112,838 (GRCm39)	missense	probably damaging	1.00
IGL02086:Psd2	APN	18	36,138,959 (GRCm39)	missense	probably damaging	1.00
IGL02132:Psd2	APN	18	36,137,809 (GRCm39)	splice site	probably benign
IGL02480:Psd2	APN	18	36,139,136 (GRCm39)	missense	probably damaging	1.00
IGL02726:Psd2	APN	18	36,120,355 (GRCm39)	critical splice donor site	probably null
recluse	UTSW	18	36,112,764 (GRCm39)	missense	probably damaging	1.00
widow	UTSW	18	36,113,478 (GRCm39)	missense	probably damaging	0.99
3-1:Psd2	UTSW	18	36,117,454 (GRCm39)	missense	probably damaging	1.00
R0103:Psd2	UTSW	18	36,137,770 (GRCm39)	missense	probably damaging	1.00
R0103:Psd2	UTSW	18	36,137,770 (GRCm39)	missense	probably damaging	1.00
R0320:Psd2	UTSW	18	36,112,697 (GRCm39)	missense	probably damaging	1.00
R0573:Psd2	UTSW	18	36,113,546 (GRCm39)	splice site	probably benign
R0685:Psd2	UTSW	18	36,136,044 (GRCm39)	missense	possibly damaging	0.90
R0698:Psd2	UTSW	18	36,145,764 (GRCm39)	missense	probably benign	0.22
R0730:Psd2	UTSW	18	36,111,627 (GRCm39)	missense	possibly damaging	0.85
R0971:Psd2	UTSW	18	36,112,839 (GRCm39)	missense	probably damaging	1.00
R1085:Psd2	UTSW	18	36,145,830 (GRCm39)	missense	probably benign	0.10
R1535:Psd2	UTSW	18	36,138,843 (GRCm39)	missense	probably benign	0.31
R4011:Psd2	UTSW	18	36,120,300 (GRCm39)	missense	probably benign	0.01
R4246:Psd2	UTSW	18	36,139,172 (GRCm39)	missense	probably damaging	1.00
R4335:Psd2	UTSW	18	36,140,583 (GRCm39)	missense	probably damaging	0.96
R4584:Psd2	UTSW	18	36,145,881 (GRCm39)	missense	probably benign
R4942:Psd2	UTSW	18	36,111,717 (GRCm39)	missense	probably damaging	1.00
R5120:Psd2	UTSW	18	36,112,863 (GRCm39)	missense	possibly damaging	0.92
R5373:Psd2	UTSW	18	36,140,556 (GRCm39)	missense	probably damaging	1.00
R5374:Psd2	UTSW	18	36,140,556 (GRCm39)	missense	probably damaging	1.00
R5839:Psd2	UTSW	18	36,140,577 (GRCm39)	missense	probably damaging	0.97
R6200:Psd2	UTSW	18	36,139,776 (GRCm39)	splice site	probably null
R6925:Psd2	UTSW	18	36,112,764 (GRCm39)	missense	probably damaging	1.00
R6967:Psd2	UTSW	18	36,113,385 (GRCm39)	missense	probably damaging	0.97
R7074:Psd2	UTSW	18	36,143,737 (GRCm39)	missense	probably benign	0.03
R7142:Psd2	UTSW	18	36,113,097 (GRCm39)	missense	possibly damaging	0.85
R7239:Psd2	UTSW	18	36,113,472 (GRCm39)	missense	probably damaging	1.00
R7348:Psd2	UTSW	18	36,113,389 (GRCm39)	missense	possibly damaging	0.85
R7581:Psd2	UTSW	18	36,113,050 (GRCm39)	missense	probably benign	0.01
R7793:Psd2	UTSW	18	36,136,032 (GRCm39)	missense	probably benign	0.37
R8221:Psd2	UTSW	18	36,113,478 (GRCm39)	missense	probably damaging	0.99
R8310:Psd2	UTSW	18	36,112,766 (GRCm39)	missense	probably damaging	1.00
R8939:Psd2	UTSW	18	36,121,292 (GRCm39)	missense	probably damaging	0.98
R9463:Psd2	UTSW	18	36,143,798 (GRCm39)	missense	probably damaging	0.98
X0065:Psd2	UTSW	18	36,135,995 (GRCm39)	missense	possibly damaging	0.92
Z1177:Psd2	UTSW	18	36,111,333 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGAGGGCATCTGTAGTGATTC -3'
(R):5'- TCTGTGACAAGCAGACACAC -3'

Sequencing Primer
(F):5'- CTGTGTGGGGTAATGAGCTATATCCC -3'
(R):5'- CCAAGTCTGTGACTGACATGC -3'

Posted On

2014-09-17