Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Dennd2d'

188766

Institutional Source

Beutler Lab

Gene Symbol

Dennd2d

Ensembl Gene

ENSMUSG00000027901

Gene Name

DENN domain containing 2D

Synonyms

2010308M01Rik

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R1652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106389745-106410346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106394317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 63 (R63S)

Ref Sequence

ENSEMBL: ENSMUSP00000029508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000149225] [ENSMUST00000183271]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029508
AA Change: R63S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: R63S

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
uDENN	47	139	4.15e-27	SMART
DENN	146	330	8.1e-71	SMART
dDENN	368	435	3.38e-18	SMART
low complexity region	447	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061206
AA Change: R66S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: R66S

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
uDENN	50	142	4.15e-27	SMART
DENN	149	333	8.1e-71	SMART
dDENN	371	438	3.38e-18	SMART
low complexity region	450	464	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139062

Predicted Effect

probably benign
Transcript: ENSMUST00000149225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164330

SMART Domains

Protein: ENSMUSP00000127168
Gene: ENSMUSG00000091575

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183271
AA Change: R73S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: R73S

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
uDENN	57	149	4.15e-27	SMART
DENN	156	340	8.1e-71	SMART
dDENN	378	445	3.38e-18	SMART
low complexity region	457	471	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193651

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Adrb1	C	T	19: 56,711,705 (GRCm39)	S301L	possibly damaging	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cers4	T	A	8: 4,566,908 (GRCm39)		probably null	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Kat2a	T	C	11: 100,599,437 (GRCm39)	N517D	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Pbx3	C	T	2: 34,114,568 (GRCm39)	G122D	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Ppp2r1a	G	A	17: 21,176,236 (GRCm39)	V153I	probably benign	Het
Prss33	C	G	17: 24,054,115 (GRCm39)	M30I	probably benign	Het
Prss33	A	T	17: 24,054,116 (GRCm39)	M30K	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Smurf1	A	T	5: 144,817,474 (GRCm39)	I712K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	probably benign	Het

Other mutations in Dennd2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Dennd2d	APN	3	106,407,861 (GRCm39)	missense	possibly damaging	0.45
IGL01397:Dennd2d	APN	3	106,394,365 (GRCm39)	critical splice donor site	probably null	0.00
IGL01410:Dennd2d	APN	3	106,398,542 (GRCm39)	missense	probably damaging	1.00
IGL02022:Dennd2d	APN	3	106,407,220 (GRCm39)	missense	probably benign	0.00
IGL02032:Dennd2d	APN	3	106,398,543 (GRCm39)	missense	probably damaging	1.00
IGL02309:Dennd2d	APN	3	106,402,284 (GRCm39)	missense	probably benign
R0140:Dennd2d	UTSW	3	106,399,799 (GRCm39)	missense	probably benign	0.08
R0648:Dennd2d	UTSW	3	106,407,871 (GRCm39)	missense	probably damaging	0.97
R1519:Dennd2d	UTSW	3	106,399,875 (GRCm39)	missense	probably damaging	1.00
R1539:Dennd2d	UTSW	3	106,394,236 (GRCm39)	missense	probably benign	0.00
R1674:Dennd2d	UTSW	3	106,399,833 (GRCm39)	missense	probably benign	0.17
R2179:Dennd2d	UTSW	3	106,399,776 (GRCm39)	missense	probably benign	0.00
R3731:Dennd2d	UTSW	3	106,407,271 (GRCm39)	missense	probably damaging	1.00
R4077:Dennd2d	UTSW	3	106,389,939 (GRCm39)	unclassified	probably benign
R4134:Dennd2d	UTSW	3	106,389,977 (GRCm39)	missense	probably benign	0.34
R4135:Dennd2d	UTSW	3	106,389,977 (GRCm39)	missense	probably benign	0.34
R5214:Dennd2d	UTSW	3	106,393,637 (GRCm39)	critical splice donor site	probably null
R5767:Dennd2d	UTSW	3	106,395,131 (GRCm39)	intron	probably benign
R6001:Dennd2d	UTSW	3	106,399,776 (GRCm39)	missense	probably benign	0.00
R6239:Dennd2d	UTSW	3	106,402,193 (GRCm39)	missense	probably damaging	1.00
R7312:Dennd2d	UTSW	3	106,398,579 (GRCm39)	missense	probably benign	0.38
R7593:Dennd2d	UTSW	3	106,407,244 (GRCm39)	missense	probably damaging	1.00
R8841:Dennd2d	UTSW	3	106,393,580 (GRCm39)	missense	probably benign
R9103:Dennd2d	UTSW	3	106,397,684 (GRCm39)	missense
R9341:Dennd2d	UTSW	3	106,397,730 (GRCm39)	critical splice donor site	probably null
R9343:Dennd2d	UTSW	3	106,397,730 (GRCm39)	critical splice donor site	probably null
R9388:Dennd2d	UTSW	3	106,395,915 (GRCm39)	missense	possibly damaging	0.93
Z1088:Dennd2d	UTSW	3	106,407,190 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTTGTTGCCCAGATTCTCGC -3'
(R):5'- GCAAGAGCATTGTTTCCCTGCTCC -3'

Sequencing Primer
(F):5'- TCGCTCGCACTACAGAATGG -3'
(R):5'- TGCTCCAGAGTTTCAGTCAG -3'

Posted On

2014-05-09