Mutagenetix > Incidental Mutation

Incidental Mutation 'R3750:Dlg5'

310158

Institutional Source

Beutler Lab

Gene Symbol

Dlg5

Ensembl Gene

ENSMUSG00000021782

Gene Name

discs large MAGUK scaffold protein 5

Synonyms

4933429D20Rik

MMRRC Submission

040735-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24184021-24295988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24215328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 665 (A665V)

Ref Sequence

ENSEMBL: ENSMUSP00000087879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042009] [ENSMUST00000073687] [ENSMUST00000090398]

AlphaFold

E9Q9R9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042009
AA Change: A311V

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044852
Gene: ENSMUSG00000021782
AA Change: A311V

Domain	Start	End	E-Value	Type
coiled coil region	20	247	N/A	INTRINSIC
low complexity region	261	274	N/A	INTRINSIC
PDZ	279	356	2.02e-10	SMART
PDZ	364	447	9.5e-16	SMART
low complexity region	510	517	N/A	INTRINSIC
low complexity region	692	711	N/A	INTRINSIC
low complexity region	903	918	N/A	INTRINSIC
PDZ	1009	1080	2.1e-17	SMART
PDZ	1164	1236	2.97e-8	SMART
SH3	1250	1314	3.73e-7	SMART
low complexity region	1338	1358	N/A	INTRINSIC
GuKc	1375	1561	5.43e-53	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073687
AA Change: A642V

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: A642V

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	22	36	N/A	INTRINSIC
low complexity region	44	66	N/A	INTRINSIC
Pfam:Takusan	104	191	1.4e-27	PFAM
coiled coil region	308	578	N/A	INTRINSIC
low complexity region	592	605	N/A	INTRINSIC
PDZ	610	687	2.02e-10	SMART
PDZ	695	773	1.25e-15	SMART
low complexity region	836	843	N/A	INTRINSIC
low complexity region	1018	1037	N/A	INTRINSIC
low complexity region	1229	1244	N/A	INTRINSIC
PDZ	1335	1406	2.1e-17	SMART
PDZ	1490	1562	2.97e-8	SMART
SH3	1576	1640	3.73e-7	SMART
low complexity region	1664	1684	N/A	INTRINSIC
GuKc	1701	1887	5.43e-53	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000090398
AA Change: A665V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: A665V

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	22	36	N/A	INTRINSIC
low complexity region	44	66	N/A	INTRINSIC
low complexity region	109	123	N/A	INTRINSIC
Pfam:Takusan	128	213	6e-33	PFAM
coiled coil region	331	601	N/A	INTRINSIC
low complexity region	615	628	N/A	INTRINSIC
PDZ	633	710	2.02e-10	SMART
PDZ	718	796	1.25e-15	SMART
low complexity region	859	866	N/A	INTRINSIC
low complexity region	1041	1060	N/A	INTRINSIC
low complexity region	1252	1267	N/A	INTRINSIC
PDZ	1358	1429	2.1e-17	SMART
PDZ	1513	1585	2.97e-8	SMART
SH3	1599	1663	3.73e-7	SMART
low complexity region	1687	1707	N/A	INTRINSIC
GuKc	1724	1910	5.43e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224920

Meta Mutation Damage Score

0.1831

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. [provided by MGI curators]

Allele List at MGI

All alleles(19) : Targeted, other(1) Gene trapped(18)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bub1b	T	A	2: 118,445,936 (GRCm39)	N319K	possibly damaging	Het
Clcn6	G	T	4: 148,108,644 (GRCm39)	C128*	probably null	Het
Col6a4	C	A	9: 105,897,864 (GRCm39)		probably null	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Hsd17b3	A	T	13: 64,210,993 (GRCm39)		probably null	Het
Kcnc4	A	G	3: 107,355,506 (GRCm39)	V314A	probably benign	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Marcks	G	A	10: 37,016,866 (GRCm39)		probably benign	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nefh	A	G	11: 4,889,937 (GRCm39)	V894A	probably benign	Het
Pdzph1	A	T	17: 59,280,331 (GRCm39)	Y650*	probably null	Het
Plce1	A	C	19: 38,766,343 (GRCm39)	I2109L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Relch	C	T	1: 105,681,302 (GRCm39)	T1178I	probably damaging	Het
Rtca	A	T	3: 116,286,650 (GRCm39)	F327L	probably benign	Het
Scn2a	T	G	2: 65,544,115 (GRCm39)	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Skil	A	G	3: 31,170,983 (GRCm39)	N354S	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Spata31	G	T	13: 65,069,557 (GRCm39)	L568F	probably benign	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Tcp11l1	A	G	2: 104,528,887 (GRCm39)	I137T	probably damaging	Het
Ttn	G	A	2: 76,584,350 (GRCm39)	H22253Y	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Usp1	C	T	4: 98,822,357 (GRCm39)		probably null	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	possibly damaging	Het

Other mutations in Dlg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Dlg5	APN	14	24,241,229 (GRCm39)	missense	probably damaging	0.99
IGL00164:Dlg5	APN	14	24,208,532 (GRCm39)	missense	possibly damaging	0.89
IGL00767:Dlg5	APN	14	24,215,353 (GRCm39)	missense	probably damaging	1.00
IGL01284:Dlg5	APN	14	24,196,265 (GRCm39)	missense	probably damaging	1.00
IGL01328:Dlg5	APN	14	24,252,419 (GRCm39)	missense	probably damaging	0.98
IGL01532:Dlg5	APN	14	24,208,660 (GRCm39)	missense	probably benign
IGL01621:Dlg5	APN	14	24,198,289 (GRCm39)	missense	probably damaging	1.00
IGL01649:Dlg5	APN	14	24,188,759 (GRCm39)	missense	probably damaging	1.00
IGL01733:Dlg5	APN	14	24,220,517 (GRCm39)	missense	probably damaging	1.00
IGL02048:Dlg5	APN	14	24,222,271 (GRCm39)	missense	possibly damaging	0.87
IGL02103:Dlg5	APN	14	24,194,414 (GRCm39)	missense	probably damaging	1.00
IGL02138:Dlg5	APN	14	24,208,419 (GRCm39)	missense	probably benign
IGL02146:Dlg5	APN	14	24,252,429 (GRCm39)	missense	probably damaging	0.99
IGL02392:Dlg5	APN	14	24,200,277 (GRCm39)	missense	probably damaging	1.00
IGL02427:Dlg5	APN	14	24,216,275 (GRCm39)	missense	probably damaging	1.00
IGL02643:Dlg5	APN	14	24,241,250 (GRCm39)	missense	probably damaging	1.00
IGL02649:Dlg5	APN	14	24,196,319 (GRCm39)	missense	probably damaging	0.96
IGL02933:Dlg5	APN	14	24,208,567 (GRCm39)	missense	probably benign	0.06
IGL02965:Dlg5	APN	14	24,222,091 (GRCm39)	missense	probably damaging	1.00
IGL02988:Dlg5	APN	14	24,216,323 (GRCm39)	missense	probably damaging	1.00
IGL03351:Dlg5	APN	14	24,220,522 (GRCm39)	missense	probably benign	0.03
legerdemain	UTSW	14	24,214,615 (GRCm39)	missense	probably damaging	1.00
R0123:Dlg5	UTSW	14	24,197,274 (GRCm39)	missense	probably benign
R0131:Dlg5	UTSW	14	24,188,717 (GRCm39)	missense	probably damaging	1.00
R0709:Dlg5	UTSW	14	24,196,323 (GRCm39)	missense	probably damaging	1.00
R0920:Dlg5	UTSW	14	24,226,465 (GRCm39)	missense	probably damaging	1.00
R0924:Dlg5	UTSW	14	24,185,645 (GRCm39)	missense	probably damaging	1.00
R0930:Dlg5	UTSW	14	24,185,645 (GRCm39)	missense	probably damaging	1.00
R0981:Dlg5	UTSW	14	24,204,699 (GRCm39)	missense	probably damaging	1.00
R1402:Dlg5	UTSW	14	24,226,676 (GRCm39)	missense	probably benign	0.06
R1402:Dlg5	UTSW	14	24,226,676 (GRCm39)	missense	probably benign	0.06
R1438:Dlg5	UTSW	14	24,204,673 (GRCm39)	missense	possibly damaging	0.94
R1449:Dlg5	UTSW	14	24,185,711 (GRCm39)	missense	possibly damaging	0.82
R1465:Dlg5	UTSW	14	24,204,764 (GRCm39)	splice site	probably null
R1465:Dlg5	UTSW	14	24,204,764 (GRCm39)	splice site	probably null
R1543:Dlg5	UTSW	14	24,194,516 (GRCm39)	missense	probably damaging	1.00
R1824:Dlg5	UTSW	14	24,199,512 (GRCm39)	missense	probably benign	0.28
R1899:Dlg5	UTSW	14	24,198,368 (GRCm39)	missense	probably damaging	1.00
R1920:Dlg5	UTSW	14	24,226,639 (GRCm39)	missense	probably damaging	1.00
R1921:Dlg5	UTSW	14	24,226,639 (GRCm39)	missense	probably damaging	1.00
R1951:Dlg5	UTSW	14	24,206,537 (GRCm39)	splice site	probably benign
R1968:Dlg5	UTSW	14	24,214,187 (GRCm39)	nonsense	probably null
R2049:Dlg5	UTSW	14	24,204,715 (GRCm39)	missense	probably damaging	1.00
R2070:Dlg5	UTSW	14	24,186,703 (GRCm39)	missense	probably damaging	1.00
R2117:Dlg5	UTSW	14	24,227,826 (GRCm39)	nonsense	probably null
R2139:Dlg5	UTSW	14	24,220,612 (GRCm39)	missense	probably damaging	1.00
R2153:Dlg5	UTSW	14	24,187,225 (GRCm39)	missense	probably damaging	1.00
R2283:Dlg5	UTSW	14	24,208,731 (GRCm39)	missense	probably benign	0.00
R2293:Dlg5	UTSW	14	24,208,180 (GRCm39)	missense	probably benign
R2356:Dlg5	UTSW	14	24,220,496 (GRCm39)	critical splice donor site	probably null
R2362:Dlg5	UTSW	14	24,208,755 (GRCm39)	missense	probably benign	0.04
R2513:Dlg5	UTSW	14	24,214,593 (GRCm39)	missense	probably damaging	1.00
R3084:Dlg5	UTSW	14	24,216,258 (GRCm39)	missense	probably damaging	1.00
R3086:Dlg5	UTSW	14	24,216,258 (GRCm39)	missense	probably damaging	1.00
R3780:Dlg5	UTSW	14	24,240,378 (GRCm39)	unclassified	probably benign
R3782:Dlg5	UTSW	14	24,240,378 (GRCm39)	unclassified	probably benign
R3828:Dlg5	UTSW	14	24,196,226 (GRCm39)	missense	probably damaging	0.99
R4079:Dlg5	UTSW	14	24,198,328 (GRCm39)	missense	possibly damaging	0.94
R4393:Dlg5	UTSW	14	24,228,057 (GRCm39)	critical splice acceptor site	probably null
R4615:Dlg5	UTSW	14	24,208,236 (GRCm39)	missense	probably damaging	1.00
R4664:Dlg5	UTSW	14	24,187,249 (GRCm39)	missense	possibly damaging	0.90
R4712:Dlg5	UTSW	14	24,228,051 (GRCm39)	missense	possibly damaging	0.94
R4796:Dlg5	UTSW	14	24,194,451 (GRCm39)	missense	probably damaging	1.00
R4801:Dlg5	UTSW	14	24,204,757 (GRCm39)	missense	probably damaging	1.00
R4802:Dlg5	UTSW	14	24,204,757 (GRCm39)	missense	probably damaging	1.00
R4946:Dlg5	UTSW	14	24,204,429 (GRCm39)	missense	probably damaging	0.99
R5022:Dlg5	UTSW	14	24,186,690 (GRCm39)	missense	probably damaging	1.00
R5023:Dlg5	UTSW	14	24,186,690 (GRCm39)	missense	probably damaging	1.00
R5057:Dlg5	UTSW	14	24,186,690 (GRCm39)	missense	probably damaging	1.00
R5234:Dlg5	UTSW	14	24,242,930 (GRCm39)	missense	probably damaging	0.98
R5561:Dlg5	UTSW	14	24,227,860 (GRCm39)	missense	probably benign	0.03
R5567:Dlg5	UTSW	14	24,242,981 (GRCm39)	nonsense	probably null
R5570:Dlg5	UTSW	14	24,242,981 (GRCm39)	nonsense	probably null
R5640:Dlg5	UTSW	14	24,220,529 (GRCm39)	missense	probably damaging	1.00
R5646:Dlg5	UTSW	14	24,208,767 (GRCm39)	missense	probably damaging	1.00
R5711:Dlg5	UTSW	14	24,200,716 (GRCm39)	missense	probably damaging	1.00
R5810:Dlg5	UTSW	14	24,196,322 (GRCm39)	missense	probably damaging	0.99
R5900:Dlg5	UTSW	14	24,199,515 (GRCm39)	missense	probably damaging	1.00
R5964:Dlg5	UTSW	14	24,214,157 (GRCm39)	missense	probably benign
R6190:Dlg5	UTSW	14	24,240,506 (GRCm39)	missense	probably damaging	0.99
R6240:Dlg5	UTSW	14	24,199,596 (GRCm39)	splice site	probably null
R6276:Dlg5	UTSW	14	24,214,636 (GRCm39)	missense	probably damaging	1.00
R6339:Dlg5	UTSW	14	24,208,128 (GRCm39)	missense	probably damaging	1.00
R6508:Dlg5	UTSW	14	24,188,774 (GRCm39)	missense	probably benign	0.45
R6527:Dlg5	UTSW	14	24,240,516 (GRCm39)	missense	possibly damaging	0.73
R6593:Dlg5	UTSW	14	24,200,720 (GRCm39)	missense	probably benign	0.01
R6687:Dlg5	UTSW	14	24,240,441 (GRCm39)	missense	probably damaging	1.00
R6965:Dlg5	UTSW	14	24,199,498 (GRCm39)	missense	probably damaging	1.00
R7051:Dlg5	UTSW	14	24,196,263 (GRCm39)	missense	possibly damaging	0.93
R7075:Dlg5	UTSW	14	24,227,865 (GRCm39)	missense	possibly damaging	0.49
R7149:Dlg5	UTSW	14	24,240,492 (GRCm39)	missense	probably benign	0.00
R7182:Dlg5	UTSW	14	24,294,924 (GRCm39)	missense
R7203:Dlg5	UTSW	14	24,188,723 (GRCm39)	missense	probably damaging	1.00
R7216:Dlg5	UTSW	14	24,186,706 (GRCm39)	nonsense	probably null
R7359:Dlg5	UTSW	14	24,214,615 (GRCm39)	missense	probably damaging	1.00
R7466:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7485:Dlg5	UTSW	14	24,227,907 (GRCm39)	missense	probably damaging	0.98
R7485:Dlg5	UTSW	14	24,198,390 (GRCm39)	missense	probably benign
R7629:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7666:Dlg5	UTSW	14	24,207,867 (GRCm39)	missense	probably damaging	1.00
R7804:Dlg5	UTSW	14	24,215,388 (GRCm39)	missense	possibly damaging	0.46
R7861:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7862:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7864:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7874:Dlg5	UTSW	14	24,185,687 (GRCm39)	missense	probably damaging	1.00
R7913:Dlg5	UTSW	14	24,187,192 (GRCm39)	splice site	probably null
R7981:Dlg5	UTSW	14	24,208,213 (GRCm39)	missense	probably benign
R8147:Dlg5	UTSW	14	24,208,395 (GRCm39)	missense	probably benign	0.07
R8204:Dlg5	UTSW	14	24,210,320 (GRCm39)	missense	probably damaging	1.00
R8206:Dlg5	UTSW	14	24,210,336 (GRCm39)	missense	possibly damaging	0.62
R8287:Dlg5	UTSW	14	24,214,453 (GRCm39)	missense	probably benign	0.40
R8296:Dlg5	UTSW	14	24,198,328 (GRCm39)	missense	possibly damaging	0.94
R8317:Dlg5	UTSW	14	24,241,298 (GRCm39)	missense	probably damaging	0.98
R8327:Dlg5	UTSW	14	24,196,388 (GRCm39)	missense	probably damaging	0.99
R8352:Dlg5	UTSW	14	24,241,261 (GRCm39)	missense	probably damaging	1.00
R8353:Dlg5	UTSW	14	24,208,213 (GRCm39)	missense	probably benign
R8409:Dlg5	UTSW	14	24,226,546 (GRCm39)	missense	probably damaging	1.00
R8452:Dlg5	UTSW	14	24,241,261 (GRCm39)	missense	probably damaging	1.00
R8453:Dlg5	UTSW	14	24,208,213 (GRCm39)	missense	probably benign
R8540:Dlg5	UTSW	14	24,208,767 (GRCm39)	missense	probably damaging	1.00
R8701:Dlg5	UTSW	14	24,226,768 (GRCm39)	missense	probably benign	0.04
R8925:Dlg5	UTSW	14	24,206,547 (GRCm39)	missense
R8927:Dlg5	UTSW	14	24,206,547 (GRCm39)	missense
R9025:Dlg5	UTSW	14	24,199,546 (GRCm39)	missense	probably benign	0.00
R9102:Dlg5	UTSW	14	24,199,567 (GRCm39)	missense	probably damaging	1.00
R9138:Dlg5	UTSW	14	24,295,376 (GRCm39)	missense	probably damaging	0.98
R9165:Dlg5	UTSW	14	24,196,309 (GRCm39)	missense	probably damaging	1.00
R9250:Dlg5	UTSW	14	24,240,543 (GRCm39)	missense	probably benign	0.07
R9267:Dlg5	UTSW	14	24,204,745 (GRCm39)	missense	probably damaging	1.00
R9269:Dlg5	UTSW	14	24,242,881 (GRCm39)	missense	probably damaging	0.99
R9291:Dlg5	UTSW	14	24,241,229 (GRCm39)	missense	probably damaging	0.99
R9387:Dlg5	UTSW	14	24,197,168 (GRCm39)	missense	probably damaging	0.99
R9729:Dlg5	UTSW	14	24,204,681 (GRCm39)	missense	probably benign	0.00
RF005:Dlg5	UTSW	14	24,208,561 (GRCm39)	nonsense	probably null
YA93:Dlg5	UTSW	14	24,205,201 (GRCm39)	unclassified	probably benign
Z1088:Dlg5	UTSW	14	24,208,162 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAAGACCATCCAGCTGAGCTTG -3'
(R):5'- ACAGCTGTTCGTTCAAGTCC -3'

Sequencing Primer
(F):5'- AGCTTGGCTCTTCAGACAG -3'
(R):5'- CAAGGTTTGAATGCCTCGC -3'

Posted On

2015-04-17