Mutagenetix > Incidental Mutation

Incidental Mutation 'R7115:Dennd2a'

551722

Institutional Source

Beutler Lab

Gene Symbol

Dennd2a

Ensembl Gene

ENSMUSG00000038456

Gene Name

DENN/MADD domain containing 2A

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39462378-39557867 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39506711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 405 (T405M)

Ref Sequence

ENSEMBL: ENSMUSP00000045367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036877] [ENSMUST00000154149]

AlphaFold

Q8C4S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036877
AA Change: T405M

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

SMART Domains

Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
AA Change: T405M

Domain	Start	End	E-Value	Type
Blast:DENN	9	430	1e-149	BLAST
low complexity region	445	457	N/A	INTRINSIC
low complexity region	508	520	N/A	INTRINSIC
uDENN	554	646	2.06e-31	SMART
DENN	653	837	7.1e-76	SMART
dDENN	888	953	1.84e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000154149
AA Change: T405M

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

SMART Domains

Protein: ENSMUSP00000116907
Gene: ENSMUSG00000038456
AA Change: T405M

Domain	Start	End	E-Value	Type
Blast:DENN	9	420	1e-152	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637		probably benign	Het
Ap5m1	T	A	14: 49,086,270	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876	K267R		Het
BC067074	T	G	13: 113,320,776	S1119A		Het
Carf	G	T	1: 60,148,150	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,883,810	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,781,805	C96R	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dennd5a	A	G	7: 109,894,754	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,720,145	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,243,662	G275D		Het
Elf3	T	G	1: 135,257,118	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489	N534S	probably benign	Het
Fry	A	T	5: 150,386,067	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235	N2338Y		Het
Map2k1	A	G	9: 64,212,606	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707	Y79C	probably benign	Het
Pxylp1	G	A	9: 96,825,010	T373I	probably benign	Het
Ranbp9	T	C	13: 43,406,671	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618	Q666*	probably null	Het
Spice1	G	A	16: 44,379,275	G697R	probably benign	Het
Tas2r131	A	G	6: 132,957,604	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817	S572L	probably damaging	Het
Tfr2	A	G	5: 137,571,715	T128A	probably benign	Het
Trim56	T	A	5: 137,113,660	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528	R840*	probably null	Het

Other mutations in Dennd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Dennd2a	APN	6	39523136	missense	probably damaging	1.00
IGL01482:Dennd2a	APN	6	39480309	missense	probably damaging	0.98
IGL02135:Dennd2a	APN	6	39480271	nonsense	probably null
IGL02206:Dennd2a	APN	6	39523449	missense	probably damaging	1.00
IGL02649:Dennd2a	APN	6	39470356	missense	probably benign	0.11
IGL03057:Dennd2a	APN	6	39508248	missense	probably damaging	0.98
R0310:Dennd2a	UTSW	6	39464201	splice site	probably benign
R0326:Dennd2a	UTSW	6	39497110	missense	probably damaging	1.00
R0360:Dennd2a	UTSW	6	39508299	missense	probably benign	0.13
R0364:Dennd2a	UTSW	6	39508299	missense	probably benign	0.13
R0394:Dennd2a	UTSW	6	39522812	missense	possibly damaging	0.92
R0680:Dennd2a	UTSW	6	39483062	missense	probably damaging	1.00
R1741:Dennd2a	UTSW	6	39493157	missense	probably damaging	0.99
R1744:Dennd2a	UTSW	6	39480251	missense	probably benign	0.26
R2070:Dennd2a	UTSW	6	39465119	missense	probably damaging	1.00
R3833:Dennd2a	UTSW	6	39506717	missense	probably damaging	0.97
R3833:Dennd2a	UTSW	6	39506723	missense	probably damaging	0.98
R4120:Dennd2a	UTSW	6	39465096	missense	probably damaging	0.99
R4583:Dennd2a	UTSW	6	39522842	missense	probably damaging	1.00
R4842:Dennd2a	UTSW	6	39497110	missense	probably damaging	1.00
R4887:Dennd2a	UTSW	6	39497159	missense	probably benign	0.03
R4901:Dennd2a	UTSW	6	39522687	missense	probably benign	0.00
R5065:Dennd2a	UTSW	6	39495176	critical splice donor site	probably null
R5413:Dennd2a	UTSW	6	39464293	missense	probably damaging	1.00
R6181:Dennd2a	UTSW	6	39485620	missense	probably benign	0.14
R6239:Dennd2a	UTSW	6	39488816	missense	probably damaging	1.00
R6360:Dennd2a	UTSW	6	39493142	missense	probably benign	0.01
R7419:Dennd2a	UTSW	6	39523463	missense	probably damaging	1.00
R7567:Dennd2a	UTSW	6	39522809	missense	probably benign
R7587:Dennd2a	UTSW	6	39483135	missense	probably damaging	1.00
R7662:Dennd2a	UTSW	6	39493103	missense	probably benign	0.03
R7781:Dennd2a	UTSW	6	39493066	missense	probably damaging	0.99
R7962:Dennd2a	UTSW	6	39480273	missense	possibly damaging	0.91
R8683:Dennd2a	UTSW	6	39523203	nonsense	probably null
R8961:Dennd2a	UTSW	6	39485621	missense	probably damaging	0.96
R9424:Dennd2a	UTSW	6	39508360	nonsense	probably null
X0026:Dennd2a	UTSW	6	39508367	missense	possibly damaging	0.61
Z1177:Dennd2a	UTSW	6	39523474	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TAATCCACGCTACACTCTGC -3'
(R):5'- GCCAAGATAGGGGCTTAGTG -3'

Sequencing Primer
(F):5'- CAAGATCTCACGGTCTTAGTCAGG -3'
(R):5'- CCAATGCCATGGGATTTGAC -3'

Posted On

2019-05-15