Mutagenetix > Incidental Mutation

Incidental Mutation 'R7629:Dlg5'

589563

Institutional Source

Beutler Lab

Gene Symbol

Dlg5

Ensembl Gene

ENSMUSG00000021782

Gene Name

discs large MAGUK scaffold protein 5

Synonyms

4933429D20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7629 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

24184021-24295988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24295280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 80 (P80L)

Ref Sequence

ENSEMBL: ENSMUSP00000087879 (fasta)

Gene Model

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

AlphaFold

E9Q9R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000073687
AA Change: P80L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: P80L

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: P80L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: P80L

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

probably benign
Transcript: ENSMUST00000169880

SMART Domains

Protein: ENSMUSP00000131986
Gene: ENSMUSG00000021782

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
Pfam:Takusan	45	130	1.9e-34	PFAM

Meta Mutation Damage Score

0.3068

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,504,293 (GRCm39)	T168I	probably benign	Het
Abtb2	T	A	2: 103,513,838 (GRCm39)		probably null	Het
Ankrd10	A	T	8: 11,665,769 (GRCm39)	V277E	probably benign	Het
Ankrd28	C	T	14: 31,437,221 (GRCm39)	V615I	probably benign	Het
Aqr	G	A	2: 113,945,074 (GRCm39)	P1079L	probably damaging	Het
Brox	G	A	1: 183,074,068 (GRCm39)	A60V	probably damaging	Het
Copg1	T	C	6: 87,871,151 (GRCm39)	V289A	possibly damaging	Het
Cplane1	C	T	15: 8,256,551 (GRCm39)	Q2004*	probably null	Het
Dido1	T	C	2: 180,303,266 (GRCm39)	N1546S	probably benign	Het
Dmxl1	T	A	18: 49,992,337 (GRCm39)	I361N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,887,374 (GRCm39)	D88E	probably benign	Het
Flywch1	A	G	17: 23,974,744 (GRCm39)	M632T	probably benign	Het
Henmt1	A	G	3: 108,865,913 (GRCm39)	T213A	probably benign	Het
Itga9	T	C	9: 118,527,514 (GRCm39)	V555A	probably benign	Het
Katnip	T	C	7: 125,394,422 (GRCm39)	L192P	probably damaging	Het
Kif13b	C	T	14: 65,016,784 (GRCm39)	R1317*	probably null	Het
Kndc1	A	T	7: 139,475,176 (GRCm39)	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675 (GRCm39)	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,509,283 (GRCm39)	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,347,310 (GRCm39)		probably null	Het
Mgat4c	G	A	10: 102,224,931 (GRCm39)	V382I	probably benign	Het
Muc16	T	C	9: 18,478,081 (GRCm39)	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,760,325 (GRCm39)		probably null	Het
Neb	T	C	2: 52,163,973 (GRCm39)	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,198,560 (GRCm39)	V75A	possibly damaging	Het
Or4k35	C	T	2: 111,100,221 (GRCm39)	V164I	probably benign	Het
Paf1	T	C	7: 28,094,493 (GRCm39)	Y35H	probably damaging	Het
Pals2	T	C	6: 50,173,603 (GRCm39)	I489T	probably benign	Het
Panx3	T	A	9: 37,572,740 (GRCm39)	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,936,317 (GRCm39)	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,280,840 (GRCm39)	I200T	probably benign	Het
Ppara	A	T	15: 85,682,392 (GRCm39)	M363L	probably damaging	Het
Prmt8	A	T	6: 127,666,846 (GRCm39)	L376*	probably null	Het
Serpina1a	G	C	12: 103,820,067 (GRCm39)	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,247,041 (GRCm39)	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,902,559 (GRCm39)	W7R	possibly damaging	Het
Skint5	T	C	4: 113,799,857 (GRCm39)	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,764,191 (GRCm39)	T195S	probably damaging	Het
Slc2a6	T	C	2: 26,914,214 (GRCm39)	D301G	probably benign	Het
Stab2	A	T	10: 86,719,646 (GRCm39)		probably null	Het
Tctn3	C	G	19: 40,599,780 (GRCm39)	D141H	probably damaging	Het
Tnik	A	G	3: 28,715,877 (GRCm39)	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,676,002 (GRCm39)	V711I	probably benign	Het
Trim11	G	A	11: 58,869,160 (GRCm39)	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 84,910,681 (GRCm39)		probably null	Het
Vmn1r72	T	C	7: 11,403,711 (GRCm39)	I246V	probably benign	Het
Zfp362	G	T	4: 128,679,848 (GRCm39)	R273S	probably damaging	Het
Zfp715	T	C	7: 42,951,100 (GRCm39)	D66G	possibly damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	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
R3750:Dlg5	UTSW	14	24,215,328 (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
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'- GCCATACAGGTAGAGCGGTG -3'
(R):5'- TTGAGAGCTGCCCGATCGT -3'

Sequencing Primer
(F):5'- GGTGGCTGCGACCTGAG -3'
(R):5'- AGTGTCAGCAGAGCCTGG -3'

Posted On

2019-10-24