Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Dennd2b'

210163

Institutional Source

Beutler Lab

Gene Symbol

Dennd2b

Ensembl Gene

ENSMUSG00000031024

Gene Name

DENN domain containing 2B

Synonyms

Denn2b, 2610305K15Rik, St5, 2010004M01Rik

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109123118-109302812 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 109124533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 686 (Q686*)

Ref Sequence

ENSEMBL: ENSMUSP00000130119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000143107] [ENSMUST00000168005] [ENSMUST00000156921]

AlphaFold

Q924W7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000053298

Predicted Effect

probably null
Transcript: ENSMUST00000077909
AA Change: Q1103*

SMART Domains

Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: Q1103*

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	314	326	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
low complexity region	365	379	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
low complexity region	577	609	N/A	INTRINSIC
low complexity region	624	638	N/A	INTRINSIC
low complexity region	645	656	N/A	INTRINSIC
uDENN	690	781	1.16e-30	SMART
DENN	788	972	7.84e-78	SMART
low complexity region	1007	1014	N/A	INTRINSIC
dDENN	1019	1086	3.12e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000079282
AA Change: Q1103*

SMART Domains

Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: Q1103*

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	314	326	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
low complexity region	365	379	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
low complexity region	577	609	N/A	INTRINSIC
low complexity region	624	638	N/A	INTRINSIC
low complexity region	645	656	N/A	INTRINSIC
uDENN	690	781	1.16e-30	SMART
DENN	788	972	7.84e-78	SMART
low complexity region	1007	1014	N/A	INTRINSIC
dDENN	1019	1086	3.12e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000084738
AA Change: Q686*

SMART Domains

Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024
AA Change: Q686*

Domain	Start	End	E-Value	Type
low complexity region	160	192	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
low complexity region	228	239	N/A	INTRINSIC
uDENN	273	364	1.16e-30	SMART
DENN	371	555	7.84e-78	SMART
low complexity region	590	597	N/A	INTRINSIC
dDENN	602	669	3.12e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132877

Predicted Effect

probably benign
Transcript: ENSMUST00000143107

SMART Domains

Protein: ENSMUSP00000123410
Gene: ENSMUSG00000046364

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18e	26	146	7.2e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000168005
AA Change: Q686*

SMART Domains

Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024
AA Change: Q686*

Domain	Start	End	E-Value	Type
low complexity region	160	192	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
low complexity region	228	239	N/A	INTRINSIC
uDENN	273	364	1.16e-30	SMART
DENN	371	555	7.84e-78	SMART
low complexity region	590	597	N/A	INTRINSIC
dDENN	602	669	3.12e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207664

Predicted Effect

probably benign
Transcript: ENSMUST00000156921

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	C	11: 101,301,057 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,259 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Adam15	C	A	3: 89,252,637 (GRCm39)	M317I	probably benign	Het
Ago3	T	C	4: 126,240,530 (GRCm39)	T111A	probably damaging	Het
Amz1	G	T	5: 140,738,216 (GRCm39)	S492I	probably benign	Het
Arid1a	T	C	4: 133,421,072 (GRCm39)	N911S	unknown	Het
Ascl2	C	A	7: 142,521,900 (GRCm39)	A115S	probably damaging	Het
Ash1l	T	C	3: 88,891,835 (GRCm39)	V1238A	probably benign	Het
Asxl2	G	T	12: 3,524,577 (GRCm39)	V202F	probably damaging	Het
Atp10a	A	T	7: 58,478,460 (GRCm39)	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,288,113 (GRCm39)	I374L	probably benign	Het
Bmal2	A	T	6: 146,712,308 (GRCm39)	E111V	probably benign	Het
Bmx	T	C	X: 163,022,411 (GRCm39)	H157R	probably benign	Het
Camk4	T	A	18: 33,291,869 (GRCm39)		probably null	Het
Ccdc103	G	A	11: 102,773,392 (GRCm39)	D5N	probably benign	Het
Ccdc186	A	T	19: 56,781,793 (GRCm39)	N70K	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714 (GRCm39)	S122R	probably benign	Het
Cnst	T	C	1: 179,450,356 (GRCm39)	S607P	probably damaging	Het
Col8a2	C	A	4: 126,205,926 (GRCm39)	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,594,204 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,620,556 (GRCm39)	T332I	probably benign	Het
Csmd1	A	T	8: 15,956,116 (GRCm39)	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,771,402 (GRCm39)	S998T	probably benign	Het
Dab2ip	C	G	2: 35,608,827 (GRCm39)	A587G	probably damaging	Het
Dach1	C	T	14: 98,138,829 (GRCm39)	G486D	probably damaging	Het
Ddx24	T	C	12: 103,376,241 (GRCm39)	I752V	probably damaging	Het
Dhx33	A	G	11: 70,879,933 (GRCm39)	V359A	probably benign	Het
Dip2c	A	T	13: 9,583,386 (GRCm39)	T123S	probably benign	Het
Dync1h1	G	A	12: 110,629,063 (GRCm39)	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,216,431 (GRCm39)	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,418,692 (GRCm39)	S462P	probably damaging	Het
Elmod2	G	C	8: 84,042,998 (GRCm39)	R277G	probably benign	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Ercc8	A	T	13: 108,312,100 (GRCm39)	K172*	probably null	Het
Fat3	T	C	9: 15,909,411 (GRCm39)	N2197S	probably benign	Het
Fbf1	A	G	11: 116,036,818 (GRCm39)	V972A	possibly damaging	Het
Fcgbpl1	T	C	7: 27,843,773 (GRCm39)	V887A	possibly damaging	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Fzd1	G	T	5: 4,807,481 (GRCm39)	H34N	probably benign	Het
Galnt17	T	A	5: 131,140,676 (GRCm39)	Y147F	probably benign	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gdf6	T	C	4: 9,859,971 (GRCm39)	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm2381	A	T	7: 42,469,352 (GRCm39)	H257Q	probably damaging	Het
Hivep1	A	T	13: 42,309,122 (GRCm39)	K454M	probably benign	Het
Hmmr	T	A	11: 40,598,925 (GRCm39)	E566D	probably damaging	Het
Hydin	T	G	8: 111,314,404 (GRCm39)	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,514,074 (GRCm39)	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,393,576 (GRCm39)	D667G	probably benign	Het
Lama3	T	C	18: 12,714,855 (GRCm39)	I3278T	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,565,796 (GRCm39)	M666K	probably damaging	Het
Ndnf	T	G	6: 65,680,297 (GRCm39)	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,172,108 (GRCm39)	I594N	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2ag16	T	C	7: 106,352,202 (GRCm39)	N131S	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Or51q1	G	A	7: 103,628,997 (GRCm39)	W199*	probably null	Het
Or52z13	A	G	7: 103,246,550 (GRCm39)	N9S	probably benign	Het
Paxbp1	T	C	16: 90,841,193 (GRCm39)		probably benign	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,410,825 (GRCm39)	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,195,965 (GRCm39)	V217A	probably benign	Het
Phf11	A	T	14: 59,496,062 (GRCm39)	S17R	probably benign	Het
Pira13	A	T	7: 3,825,918 (GRCm39)	I317N	probably benign	Het
Pirb	A	T	7: 3,717,587 (GRCm39)	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517 (GRCm39)	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,887,300 (GRCm39)	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkca	A	T	11: 107,830,438 (GRCm39)	D217E	possibly damaging	Het
Rac3	A	C	11: 120,614,163 (GRCm39)	I142L	probably benign	Het
Ralgapb	G	T	2: 158,286,595 (GRCm39)	A347S	probably damaging	Het
Rbm43	G	C	2: 51,815,446 (GRCm39)	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Rsph10b	T	C	5: 143,922,309 (GRCm39)	F409L	probably benign	Het
Ryr2	A	T	13: 11,715,235 (GRCm39)	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,161,696 (GRCm39)	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,476,767 (GRCm39)	M786K	probably benign	Het
Sema4g	C	A	19: 44,986,061 (GRCm39)	R301S	probably damaging	Het
Senp6	A	T	9: 80,021,056 (GRCm39)	E245D	possibly damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,290,968 (GRCm39)	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,662,437 (GRCm39)	N74D	probably damaging	Het
Slc28a1	T	A	7: 80,791,783 (GRCm39)	F316L	probably damaging	Het
Slfn8	G	A	11: 82,894,447 (GRCm39)	Q731*	probably null	Het
Slitrk4	A	G	X: 63,316,229 (GRCm39)	I146T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Smyd1	T	A	6: 71,216,563 (GRCm39)	K61N	probably benign	Het
Sod2	T	C	17: 13,234,056 (GRCm39)	*223R	probably null	Het
Sp6	G	T	11: 96,912,334 (GRCm39)	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,850,509 (GRCm39)	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,399,751 (GRCm39)	D91G	probably damaging	Het
Spg7	A	G	8: 123,807,480 (GRCm39)	T419A	probably benign	Het
St8sia4	A	G	1: 95,555,298 (GRCm39)	I244T	probably damaging	Het
Tbl2	C	T	5: 135,181,845 (GRCm39)	R27W	probably damaging	Het
Tmed4	G	A	11: 6,224,694 (GRCm39)	P47L	probably damaging	Het
Tmsb10b	T	C	7: 24,561,731 (GRCm39)	I10T	possibly damaging	Het
Tmtc1	T	C	6: 148,345,546 (GRCm39)	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,431,920 (GRCm39)		probably null	Het
Unc13d	A	G	11: 115,961,121 (GRCm39)	F412S	probably damaging	Het
Unc45b	A	C	11: 82,816,913 (GRCm39)	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,853 (GRCm39)	M687V	probably benign	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vps51	A	G	19: 6,119,499 (GRCm39)	V625A	probably benign	Het
Wapl	T	A	14: 34,413,869 (GRCm39)	W244R	probably damaging	Het
Wdr75	C	T	1: 45,862,563 (GRCm39)	T794I	probably benign	Het

Other mutations in Dennd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Dennd2b	APN	7	109,126,915 (GRCm39)	missense	possibly damaging	0.71
IGL01132:Dennd2b	APN	7	109,169,212 (GRCm39)	splice site	probably null
IGL01288:Dennd2b	APN	7	109,139,029 (GRCm39)	missense	probably damaging	0.96
IGL01645:Dennd2b	APN	7	109,126,841 (GRCm39)	nonsense	probably null
IGL01714:Dennd2b	APN	7	109,169,269 (GRCm39)	missense	probably damaging	0.99
IGL02021:Dennd2b	APN	7	109,156,579 (GRCm39)	missense	probably damaging	1.00
IGL02302:Dennd2b	APN	7	109,124,538 (GRCm39)	missense	probably damaging	1.00
IGL02496:Dennd2b	APN	7	109,155,442 (GRCm39)	missense	possibly damaging	0.83
IGL02795:Dennd2b	APN	7	109,155,571 (GRCm39)	missense	probably damaging	1.00
Bucolic	UTSW	7	109,124,755 (GRCm39)	nonsense	probably null
Halcyon	UTSW	7	109,156,000 (GRCm39)	nonsense	probably null
FR4340:Dennd2b	UTSW	7	109,156,128 (GRCm39)	unclassified	probably benign
FR4737:Dennd2b	UTSW	7	109,156,128 (GRCm39)	unclassified	probably benign
PIT4466001:Dennd2b	UTSW	7	109,130,337 (GRCm39)	missense	probably damaging	1.00
PIT4469001:Dennd2b	UTSW	7	109,130,337 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Dennd2b	UTSW	7	109,130,337 (GRCm39)	missense	probably damaging	1.00
R0024:Dennd2b	UTSW	7	109,123,866 (GRCm39)	missense	probably damaging	1.00
R0124:Dennd2b	UTSW	7	109,141,718 (GRCm39)	missense	possibly damaging	0.66
R0125:Dennd2b	UTSW	7	109,155,545 (GRCm39)	missense	probably benign	0.19
R0365:Dennd2b	UTSW	7	109,138,156 (GRCm39)	missense	probably damaging	1.00
R0491:Dennd2b	UTSW	7	109,156,411 (GRCm39)	missense	probably benign	0.45
R0534:Dennd2b	UTSW	7	109,140,635 (GRCm39)	missense	probably damaging	1.00
R0662:Dennd2b	UTSW	7	109,156,633 (GRCm39)	missense	probably damaging	1.00
R0743:Dennd2b	UTSW	7	109,156,552 (GRCm39)	missense	probably damaging	1.00
R0772:Dennd2b	UTSW	7	109,141,527 (GRCm39)	splice site	probably null
R0774:Dennd2b	UTSW	7	109,141,527 (GRCm39)	splice site	probably null
R0787:Dennd2b	UTSW	7	109,124,827 (GRCm39)	missense	possibly damaging	0.94
R0884:Dennd2b	UTSW	7	109,156,552 (GRCm39)	missense	probably damaging	1.00
R1518:Dennd2b	UTSW	7	109,156,562 (GRCm39)	missense	probably damaging	1.00
R1908:Dennd2b	UTSW	7	109,124,533 (GRCm39)	nonsense	probably null
R2232:Dennd2b	UTSW	7	109,156,414 (GRCm39)	missense	probably benign
R2358:Dennd2b	UTSW	7	109,155,653 (GRCm39)	missense	probably benign	0.01
R2847:Dennd2b	UTSW	7	109,124,544 (GRCm39)	missense	probably damaging	1.00
R2869:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R2869:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R2870:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R2870:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R2871:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R2871:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R2873:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R2874:Dennd2b	UTSW	7	109,156,637 (GRCm39)	missense	probably benign	0.01
R4534:Dennd2b	UTSW	7	109,130,363 (GRCm39)	missense	probably damaging	1.00
R4536:Dennd2b	UTSW	7	109,130,363 (GRCm39)	missense	probably damaging	1.00
R4559:Dennd2b	UTSW	7	109,124,785 (GRCm39)	missense	probably damaging	1.00
R4798:Dennd2b	UTSW	7	109,156,240 (GRCm39)	missense	probably damaging	0.99
R4846:Dennd2b	UTSW	7	109,156,043 (GRCm39)	nonsense	probably null
R5110:Dennd2b	UTSW	7	109,141,697 (GRCm39)	missense	probably benign	0.02
R5181:Dennd2b	UTSW	7	109,155,997 (GRCm39)	missense	probably benign
R5268:Dennd2b	UTSW	7	109,156,519 (GRCm39)	missense	probably benign
R5403:Dennd2b	UTSW	7	109,156,112 (GRCm39)	missense	probably damaging	1.00
R5836:Dennd2b	UTSW	7	109,140,552 (GRCm39)	missense	possibly damaging	0.78
R5932:Dennd2b	UTSW	7	109,169,223 (GRCm39)	missense	probably damaging	1.00
R5937:Dennd2b	UTSW	7	109,156,478 (GRCm39)	missense	possibly damaging	0.86
R6180:Dennd2b	UTSW	7	109,156,095 (GRCm39)	missense	probably benign	0.11
R6741:Dennd2b	UTSW	7	109,144,304 (GRCm39)	missense	possibly damaging	0.95
R6781:Dennd2b	UTSW	7	109,124,511 (GRCm39)	missense	possibly damaging	0.83
R7086:Dennd2b	UTSW	7	109,124,781 (GRCm39)	missense	probably damaging	1.00
R7466:Dennd2b	UTSW	7	109,124,553 (GRCm39)	missense	probably damaging	1.00
R7644:Dennd2b	UTSW	7	109,156,000 (GRCm39)	nonsense	probably null
R8354:Dennd2b	UTSW	7	109,124,755 (GRCm39)	nonsense	probably null
R8745:Dennd2b	UTSW	7	109,156,279 (GRCm39)	missense	probably benign	0.02
R8859:Dennd2b	UTSW	7	109,123,863 (GRCm39)	missense	probably damaging	1.00
R9016:Dennd2b	UTSW	7	109,139,642 (GRCm39)	missense	possibly damaging	0.84
R9178:Dennd2b	UTSW	7	109,156,291 (GRCm39)	missense	probably benign	0.31
R9361:Dennd2b	UTSW	7	109,126,991 (GRCm39)	missense	probably damaging	1.00
R9564:Dennd2b	UTSW	7	109,125,536 (GRCm39)	missense	probably damaging	1.00
R9595:Dennd2b	UTSW	7	109,155,973 (GRCm39)	missense	probably damaging	0.96
RF062:Dennd2b	UTSW	7	109,156,153 (GRCm39)	unclassified	probably benign
X0067:Dennd2b	UTSW	7	109,155,447 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGAATCTTCTGCCAAATGCTC -3'
(R):5'- AGCTAAGGAAGTGTCGAGCC -3'

Sequencing Primer
(F):5'- TCTTCTGCCAAATGCTCTTAAAG -3'
(R):5'- GGGGCTTCTCTAGACTCAGTATAAC -3'

Posted On

2014-06-30