Mutagenetix > Incidental Mutation

Incidental Mutation 'R4120:Dennd2a'

315266

Institutional Source

Beutler Lab

Gene Symbol

Dennd2a

Ensembl Gene

ENSMUSG00000038456

Gene Name

DENN domain containing 2A

Synonyms

B930096L08Rik

MMRRC Submission

040993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R4120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39439312-39534801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39442030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 947 (R947C)

Ref Sequence

ENSEMBL: ENSMUSP00000045367 (fasta)

Gene Model

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

AlphaFold

Q8C4S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036877
AA Change: R947C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
AA Change: R947C

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

noncoding transcript
Transcript: ENSMUST00000145541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149162

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (55/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,133,388 (GRCm39)	E1233*	probably null	Het
Afap1l1	T	C	18: 61,872,243 (GRCm39)	D526G	probably damaging	Het
Ago4	A	G	4: 126,390,600 (GRCm39)	Y807H	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Arhgap40	A	G	2: 158,374,250 (GRCm39)	M222V	probably benign	Het
Asnsd1	A	G	1: 53,387,154 (GRCm39)	S158P	probably damaging	Het
Cdh15	T	C	8: 123,590,162 (GRCm39)	V365A	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Col4a1	G	A	8: 11,256,263 (GRCm39)	P1535S	unknown	Het
Dlg2	G	A	7: 91,614,846 (GRCm39)	V217I	probably damaging	Het
Dnaaf2	T	C	12: 69,244,812 (GRCm39)	D83G	possibly damaging	Het
Dppa5a	A	T	9: 78,275,137 (GRCm39)	M55K	possibly damaging	Het
Ect2l	A	G	10: 18,006,466 (GRCm39)	V779A	probably benign	Het
Ehhadh	A	G	16: 21,581,934 (GRCm39)	S353P	probably benign	Het
Etv3	A	G	3: 87,443,589 (GRCm39)	D391G	probably benign	Het
Fastkd1	T	A	2: 69,537,654 (GRCm39)	K309N	probably damaging	Het
Fip1l1	T	A	5: 74,748,852 (GRCm39)	Y375N	probably damaging	Het
Flvcr2	T	C	12: 85,832,903 (GRCm39)	S308P	probably benign	Het
Fyco1	T	C	9: 123,654,691 (GRCm39)	Y1065C	probably benign	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Gm17175	A	T	14: 51,810,534 (GRCm39)	I31N	probably damaging	Het
Gm6003	T	A	7: 32,864,976 (GRCm39)		noncoding transcript	Het
Gm9951	T	C	8: 34,522,993 (GRCm39)		noncoding transcript	Het
Hspa2	A	G	12: 76,452,008 (GRCm39)	E234G	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Iqsec1	A	T	6: 90,639,584 (GRCm39)	Y1065*	probably null	Het
Ltk	T	A	2: 119,588,429 (GRCm39)		probably benign	Het
Map2	G	A	1: 66,455,063 (GRCm39)	A1318T	probably damaging	Het
Mas1	A	T	17: 13,061,233 (GRCm39)	N63K	probably damaging	Het
Myo15b	T	C	11: 115,764,318 (GRCm39)	S1311P	probably benign	Het
Nav3	A	G	10: 109,739,605 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,133,359 (GRCm39)		noncoding transcript	Het
Oca2	A	T	7: 55,904,630 (GRCm39)	D32V	probably damaging	Het
Or51v8	T	C	7: 103,320,221 (GRCm39)	T6A	probably benign	Het
Or8b9	T	C	9: 37,766,705 (GRCm39)	L197S	possibly damaging	Het
Otub2	T	C	12: 103,370,489 (GRCm39)	V257A	probably damaging	Het
Pink1	G	A	4: 138,042,822 (GRCm39)	R461*	probably null	Het
Plxna2	T	C	1: 194,462,935 (GRCm39)	C901R	probably damaging	Het
Ptchd3	T	A	11: 121,721,572 (GRCm39)	N148K	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Ripor1	T	A	8: 106,345,489 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,711,637 (GRCm39)	N107S	probably damaging	Het
Slc12a2	A	G	18: 58,032,427 (GRCm39)	M376V	possibly damaging	Het
Sp140l2	C	T	1: 85,237,542 (GRCm39)	V81M	possibly damaging	Het
Sptbn5	T	A	2: 119,895,010 (GRCm39)	D798V	possibly damaging	Het
Stradb	T	A	1: 59,019,168 (GRCm39)	Y30N	possibly damaging	Het
Syne1	T	A	10: 5,359,798 (GRCm39)	Q328L	probably damaging	Het
Ttc23l	A	C	15: 10,540,006 (GRCm39)	V159G	probably damaging	Het
Vmn2r100	T	C	17: 19,752,215 (GRCm39)	S753P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,778 (GRCm39)		noncoding transcript	Het
Vmn2r39	G	A	7: 9,026,673 (GRCm39)	H443Y	probably benign	Het
Zfp936	A	G	7: 42,839,630 (GRCm39)	T366A	probably benign	Het
Zkscan3	T	C	13: 21,578,119 (GRCm39)	E256G	possibly damaging	Het

Other mutations in Dennd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Dennd2a	APN	6	39,500,070 (GRCm39)	missense	probably damaging	1.00
IGL01482:Dennd2a	APN	6	39,457,243 (GRCm39)	missense	probably damaging	0.98
IGL02135:Dennd2a	APN	6	39,457,205 (GRCm39)	nonsense	probably null
IGL02206:Dennd2a	APN	6	39,500,383 (GRCm39)	missense	probably damaging	1.00
IGL02649:Dennd2a	APN	6	39,447,290 (GRCm39)	missense	probably benign	0.11
IGL03057:Dennd2a	APN	6	39,485,182 (GRCm39)	missense	probably damaging	0.98
R0310:Dennd2a	UTSW	6	39,441,135 (GRCm39)	splice site	probably benign
R0326:Dennd2a	UTSW	6	39,474,044 (GRCm39)	missense	probably damaging	1.00
R0360:Dennd2a	UTSW	6	39,485,233 (GRCm39)	missense	probably benign	0.13
R0364:Dennd2a	UTSW	6	39,485,233 (GRCm39)	missense	probably benign	0.13
R0394:Dennd2a	UTSW	6	39,499,746 (GRCm39)	missense	possibly damaging	0.92
R0680:Dennd2a	UTSW	6	39,459,996 (GRCm39)	missense	probably damaging	1.00
R1741:Dennd2a	UTSW	6	39,470,091 (GRCm39)	missense	probably damaging	0.99
R1744:Dennd2a	UTSW	6	39,457,185 (GRCm39)	missense	probably benign	0.26
R2070:Dennd2a	UTSW	6	39,442,053 (GRCm39)	missense	probably damaging	1.00
R3833:Dennd2a	UTSW	6	39,483,657 (GRCm39)	missense	probably damaging	0.98
R3833:Dennd2a	UTSW	6	39,483,651 (GRCm39)	missense	probably damaging	0.97
R4583:Dennd2a	UTSW	6	39,499,776 (GRCm39)	missense	probably damaging	1.00
R4842:Dennd2a	UTSW	6	39,474,044 (GRCm39)	missense	probably damaging	1.00
R4887:Dennd2a	UTSW	6	39,474,093 (GRCm39)	missense	probably benign	0.03
R4901:Dennd2a	UTSW	6	39,499,621 (GRCm39)	missense	probably benign	0.00
R5065:Dennd2a	UTSW	6	39,472,110 (GRCm39)	critical splice donor site	probably null
R5413:Dennd2a	UTSW	6	39,441,227 (GRCm39)	missense	probably damaging	1.00
R6181:Dennd2a	UTSW	6	39,462,554 (GRCm39)	missense	probably benign	0.14
R6239:Dennd2a	UTSW	6	39,465,750 (GRCm39)	missense	probably damaging	1.00
R6360:Dennd2a	UTSW	6	39,470,076 (GRCm39)	missense	probably benign	0.01
R7115:Dennd2a	UTSW	6	39,483,645 (GRCm39)	missense	probably damaging	1.00
R7419:Dennd2a	UTSW	6	39,500,397 (GRCm39)	missense	probably damaging	1.00
R7567:Dennd2a	UTSW	6	39,499,743 (GRCm39)	missense	probably benign
R7587:Dennd2a	UTSW	6	39,460,069 (GRCm39)	missense	probably damaging	1.00
R7662:Dennd2a	UTSW	6	39,470,037 (GRCm39)	missense	probably benign	0.03
R7781:Dennd2a	UTSW	6	39,470,000 (GRCm39)	missense	probably damaging	0.99
R7962:Dennd2a	UTSW	6	39,457,207 (GRCm39)	missense	possibly damaging	0.91
R8683:Dennd2a	UTSW	6	39,500,137 (GRCm39)	nonsense	probably null
R8961:Dennd2a	UTSW	6	39,462,555 (GRCm39)	missense	probably damaging	0.96
R9424:Dennd2a	UTSW	6	39,485,294 (GRCm39)	nonsense	probably null
R9765:Dennd2a	UTSW	6	39,473,907 (GRCm39)	critical splice donor site	probably null
R9767:Dennd2a	UTSW	6	39,483,709 (GRCm39)	missense	probably damaging	0.98
X0026:Dennd2a	UTSW	6	39,485,301 (GRCm39)	missense	possibly damaging	0.61
Z1177:Dennd2a	UTSW	6	39,500,408 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TTTTAGACTCCCAGAACGCCC -3'
(R):5'- TCAGGCCCTGAATCCAGTTC -3'

Sequencing Primer
(F):5'- CCAGCTGGGACAATGGAC -3'
(R):5'- CCTGAATCCAGTTCCTTGAGTGAG -3'

Posted On

2015-05-14