Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Dlgap5'

696090

Institutional Source

Beutler Lab

Gene Symbol

Dlgap5

Ensembl Gene

ENSMUSG00000037544

Gene Name

DLG associated protein 5

Synonyms

Dlg7, C86398, Hurp

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R9166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47387779-47418407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47413749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 109 (R109Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043296] [ENSMUST00000178661] [ENSMUST00000180299]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043296
AA Change: R109Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544
AA Change: R109Q

Domain	Start	End	E-Value	Type
coiled coil region	86	116	N/A	INTRINSIC
Pfam:GKAP	327	590	2.2e-38	PFAM
low complexity region	735	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111778

SMART Domains

Protein: ENSMUSP00000107408
Gene: ENSMUSG00000037544

Domain	Start	End	E-Value	Type
Pfam:GKAP	78	303	3.9e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178661
AA Change: R109Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000180299
AA Change: R109Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display female infertility resulting from a defect in decidualization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,171,048		probably null	Het
4932438A13Rik	T	A	3: 36,987,367	N2630K	probably damaging	Het
4932438H23Rik	A	G	16: 91,056,158	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,548,626	M875L	probably benign	Het
Amot	A	T	X: 145,461,749	L435H		Het
Ankrd13c	T	A	3: 157,999,720	S427T	probably benign	Het
Ap3b1	A	C	13: 94,471,728	Y569S	probably damaging	Het
Bco2	A	G	9: 50,536,367	V352A	probably benign	Het
Cacnb1	T	A	11: 98,019,708	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,392,711	Q132K	probably benign	Het
Chrd	T	C	16: 20,735,822	M377T	probably benign	Het
Coq7	T	C	7: 118,510,142	T228A	unknown	Het
D7Ertd443e	G	A	7: 134,298,319	T438I	probably benign	Het
Dlc1	C	T	8: 36,599,435	E15K	probably damaging	Het
Dysf	T	C	6: 84,149,977	V1359A	probably damaging	Het
E2f7	C	T	10: 110,782,224	P717S	probably benign	Het
Elmo2	T	C	2: 165,290,518	D669G	probably benign	Het
Epha6	A	G	16: 60,604,875	V125A	probably benign	Het
Erg	G	T	16: 95,389,948	H119N	probably benign	Het
Fam13b	T	C	18: 34,462,199	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800	Q297E	probably benign	Het
Gas2	A	G	7: 51,936,575	E145G	possibly damaging	Het
Gas7	T	C	11: 67,670,620	V218A	probably benign	Het
Gm9833	A	G	3: 10,088,789	N206S	probably benign	Het
Gm9970	A	G	5: 31,241,001	S78P	unknown	Het
Hectd4	A	C	5: 121,308,627	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,353,513	S317A	probably damaging	Het
Hspg2	T	C	4: 137,542,874	L2381P	probably damaging	Het
Irf4	A	T	13: 30,757,501	H280L	probably benign	Het
Irf7	A	G	7: 141,264,753	V142A	probably benign	Het
Kat7	T	C	11: 95,300,102	I94V	probably benign	Het
Kera	T	A	10: 97,612,968	I350K	possibly damaging	Het
Klf15	T	C	6: 90,466,970	S176P	probably benign	Het
Lrrc59	C	A	11: 94,632,133	T53N	probably benign	Het
Morn5	T	C	2: 36,055,012	Y83H	probably damaging	Het
Neil3	A	C	8: 53,605,687	M273R	probably damaging	Het
Ngfr	A	T	11: 95,574,221	V267E	possibly damaging	Het
Nudc	T	C	4: 133,545,854	D11G	probably damaging	Het
Olfr1254	T	A	2: 89,788,947	N135I	probably damaging	Het
Olfr31	A	T	14: 14,329,059	D316V	probably benign	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,192,214	G966R	probably damaging	Het
Ppfibp1	A	G	6: 147,019,482	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,396,307	R37L	probably benign	Het
Prpf8	T	C	11: 75,496,514	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,856,825	I527F	probably damaging	Het
Pspc1	A	G	14: 56,761,848	M317T	probably damaging	Het
Ptpru	C	T	4: 131,797,869	V768I	probably benign	Het
Ptx4	A	G	17: 25,124,572		probably null	Het
Ralgapb	T	C	2: 158,432,922		probably null	Het
Rhobtb2	C	A	14: 69,797,254	G174V	probably damaging	Het
Sdad1	G	T	5: 92,298,221	S285*	probably null	Het
Sema4f	G	T	6: 82,913,645	S727*	probably null	Het
Sik1	A	G	17: 31,850,753	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,524,031	S279P	probably benign	Het
Slco4a1	A	G	2: 180,464,241	E72G	probably benign	Het
Smok3c	A	T	5: 138,065,519	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,796,372	V1078A	probably benign	Het
Sptb	A	G	12: 76,627,002	V337A	probably damaging	Het
Tet2	C	A	3: 133,468,172	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,560,981	L13H	probably damaging	Het
Tnrc6a	A	G	7: 123,187,401	E1562G	probably damaging	Het
Trim24	A	T	6: 37,957,139	K742N	probably damaging	Het
Trim56	A	T	5: 137,113,897	V255E	probably damaging	Het
Trmt12	A	G	15: 58,872,759	E2G	probably benign	Het
Tubd1	A	T	11: 86,561,265	T353S	probably benign	Het
Vim	T	C	2: 13,574,745	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,864,007	V404E	probably damaging	Het
Wdr62	G	A	7: 30,242,449	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,190,273	C32*	probably null	Het
Zfp750	T	A	11: 121,513,154	R298S	probably damaging	Het

Other mutations in Dlgap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Dlgap5	APN	14	47398468	missense	probably damaging	1.00
IGL01110:Dlgap5	APN	14	47394326	splice site	probably benign
IGL02943:Dlgap5	APN	14	47412976	critical splice donor site	probably null
PIT4453001:Dlgap5	UTSW	14	47401522	frame shift	probably null
R0189:Dlgap5	UTSW	14	47412975	splice site	probably null
R0383:Dlgap5	UTSW	14	47410361	missense	probably benign	0.01
R1078:Dlgap5	UTSW	14	47399566	missense	probably damaging	1.00
R1915:Dlgap5	UTSW	14	47407773	missense	probably benign	0.00
R1959:Dlgap5	UTSW	14	47416386	missense	possibly damaging	0.88
R2051:Dlgap5	UTSW	14	47411484	missense	probably benign	0.01
R2145:Dlgap5	UTSW	14	47395923	nonsense	probably null
R2922:Dlgap5	UTSW	14	47390441	critical splice donor site	probably null
R4261:Dlgap5	UTSW	14	47413788	missense	probably damaging	1.00
R4607:Dlgap5	UTSW	14	47413018	missense	possibly damaging	0.87
R4724:Dlgap5	UTSW	14	47401520	critical splice donor site	probably null
R4898:Dlgap5	UTSW	14	47413819	missense	probably benign	0.01
R5135:Dlgap5	UTSW	14	47399665	missense	probably damaging	1.00
R5154:Dlgap5	UTSW	14	47413720	missense	probably damaging	1.00
R5650:Dlgap5	UTSW	14	47411739	missense	probably benign	0.01
R5849:Dlgap5	UTSW	14	47389435	missense	possibly damaging	0.95
R5958:Dlgap5	UTSW	14	47413754	missense	probably damaging	1.00
R6845:Dlgap5	UTSW	14	47416563	missense	possibly damaging	0.79
R7163:Dlgap5	UTSW	14	47399638	missense	probably damaging	1.00
R7529:Dlgap5	UTSW	14	47416419	missense	probably damaging	1.00
R7646:Dlgap5	UTSW	14	47399519	critical splice donor site	probably null
R8029:Dlgap5	UTSW	14	47416440	missense	probably benign	0.01
R8084:Dlgap5	UTSW	14	47407841	missense	probably benign	0.00
R9126:Dlgap5	UTSW	14	47401532	missense	probably damaging	1.00
Z1177:Dlgap5	UTSW	14	47388063	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAAAATTTATTCCATGTCTCAGTT -3'
(R):5'- ACATAGTGTGCCGTTAGAAAGT -3'

Sequencing Primer
(F):5'- CTGTGATAACTCCAGCTGTGTCAAG -3'
(R):5'- CATAGTGTGCCGTTAGAAAGTTGATG -3'

Posted On

2022-02-07