Mutagenetix > Incidental Mutation

Incidental Mutation 'R4798:Dennd2b'

369215

Institutional Source

Beutler Lab

Gene Symbol

Dennd2b

Ensembl Gene

ENSMUSG00000031024

Gene Name

DENN domain containing 2B

Synonyms

Denn2b, 2610305K15Rik, St5, 2010004M01Rik

MMRRC Submission

042422-MU

Accession Numbers

Essential gene?

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

Stock #

R4798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109123118-109302812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109156240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 170 (G170D)

Ref Sequence

ENSEMBL: ENSMUSP00000078264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000168005] [ENSMUST00000207394] [ENSMUST00000207745] [ENSMUST00000208583]

AlphaFold

Q924W7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077909
AA Change: G170D

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

SMART Domains

Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: G170D

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 damaging
Transcript: ENSMUST00000079282
AA Change: G170D

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

SMART Domains

Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: G170D

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 benign
Transcript: ENSMUST00000084738

SMART Domains

Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024

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

probably benign
Transcript: ENSMUST00000168005

SMART Domains

Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024

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

probably benign
Transcript: ENSMUST00000207394

Predicted Effect

probably benign
Transcript: ENSMUST00000207745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208557

Predicted Effect

probably benign
Transcript: ENSMUST00000208583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208981

Meta Mutation Damage Score

0.1546

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (111/114)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,843 (GRCm39)	W1083R	possibly damaging	Het
Adamts10	T	A	17: 33,747,726 (GRCm39)	L54Q	probably damaging	Het
Ankrd24	A	C	10: 81,479,149 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,618,888 (GRCm39)	S813P	probably benign	Het
Atp13a3	T	A	16: 30,160,058 (GRCm39)	I716F	probably damaging	Het
Atp6v1c1	T	A	15: 38,689,420 (GRCm39)	W294R	probably damaging	Het
Atrnl1	G	T	19: 58,030,793 (GRCm39)	A1312S	probably benign	Het
Bcl2	A	T	1: 106,640,338 (GRCm39)	H91Q	possibly damaging	Het
Cacna1c	G	A	6: 118,607,263 (GRCm39)	Q1214*	probably null	Het
Cacna1g	C	A	11: 94,324,673 (GRCm39)	G1183W	probably damaging	Het
Capsl	A	T	15: 9,461,828 (GRCm39)	M75L	probably benign	Het
Ccdc122	T	G	14: 77,349,047 (GRCm39)		probably benign	Het
Ccdc57	T	G	11: 120,772,683 (GRCm39)	R645S	possibly damaging	Het
Cdh8	T	A	8: 99,751,558 (GRCm39)	R720*	probably null	Het
Cenpx	T	G	11: 120,602,610 (GRCm39)		probably benign	Het
Clic3	T	C	2: 25,348,194 (GRCm39)	S114P	probably damaging	Het
Cracdl	A	T	1: 37,664,046 (GRCm39)	D617E	probably benign	Het
Crtac1	A	T	19: 42,312,240 (GRCm39)	W158R	possibly damaging	Het
Dhrs11	T	A	11: 84,719,626 (GRCm39)	Q33L	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpp9	G	T	17: 56,498,016 (GRCm39)	Q647K	probably damaging	Het
Egf	C	T	3: 129,510,327 (GRCm39)	G64D	probably damaging	Het
Eif2b4	C	T	5: 31,346,864 (GRCm39)		probably benign	Het
Epas1	A	G	17: 87,113,267 (GRCm39)	N151S	probably benign	Het
Fastkd1	A	T	2: 69,521,651 (GRCm39)	I707K	probably benign	Het
Fbln2	A	G	6: 91,246,168 (GRCm39)	T1005A	probably benign	Het
Fgfrl1	T	A	5: 108,851,363 (GRCm39)	Y93*	probably null	Het
Fktn	A	G	4: 53,744,637 (GRCm39)	T306A	probably benign	Het
Gabbr2	T	G	4: 46,991,139 (GRCm39)	Y96S	possibly damaging	Het
Gm16332	A	T	1: 139,819,396 (GRCm39)		noncoding transcript	Het
Gm5145	G	T	17: 20,790,810 (GRCm39)	V63F	probably damaging	Het
Gm9970	G	T	5: 31,398,429 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,787,993 (GRCm39)	T545A	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Herc6	A	T	6: 57,581,151 (GRCm39)	I284F	probably damaging	Het
Hook1	C	G	4: 95,890,794 (GRCm39)	A301G	possibly damaging	Het
Hpcal4	T	A	4: 123,084,491 (GRCm39)	M140K	possibly damaging	Het
Il11ra1	T	C	4: 41,766,096 (GRCm39)		probably benign	Het
Ildr1	A	T	16: 36,542,917 (GRCm39)	H439L	possibly damaging	Het
Itga11	A	G	9: 62,684,009 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,880,252 (GRCm39)	D337E	probably benign	Het
Krt82	C	T	15: 101,458,923 (GRCm39)	R39Q	probably benign	Het
L3mbtl4	T	A	17: 68,666,475 (GRCm39)	M1K	probably null	Het
Lrrc32	T	G	7: 98,148,224 (GRCm39)	F335V	probably damaging	Het
Lurap1l	T	A	4: 80,829,650 (GRCm39)	V20E	probably damaging	Het
Lyar	T	A	5: 38,385,230 (GRCm39)	V90D	possibly damaging	Het
Man2c1	C	T	9: 57,048,469 (GRCm39)	R778*	probably null	Het
Mapk6	A	G	9: 75,295,714 (GRCm39)	F595L	probably benign	Het
Mccc1	A	G	3: 36,039,150 (GRCm39)	I281T	probably damaging	Het
Mep1b	T	C	18: 21,226,311 (GRCm39)	V391A	probably damaging	Het
Mier1	G	A	4: 102,988,195 (GRCm39)	D40N	probably damaging	Het
Mkx	T	C	18: 7,002,432 (GRCm39)	H38R	probably benign	Het
Mroh4	A	G	15: 74,498,028 (GRCm39)	L184P	probably damaging	Het
Muc2	C	A	7: 141,307,877 (GRCm39)	N834K	probably benign	Het
Mycl	A	G	4: 122,894,049 (GRCm39)	D283G	probably damaging	Het
Myh6	T	C	14: 55,190,750 (GRCm39)	N975S	probably damaging	Het
Myl12a	A	G	17: 71,303,297 (GRCm39)		probably benign	Het
Mysm1	T	C	4: 94,853,910 (GRCm39)	T230A	probably benign	Het
Naca	A	G	10: 127,883,672 (GRCm39)	K2099R	probably null	Het
Nbeal1	T	G	1: 60,261,352 (GRCm39)		probably null	Het
Nedd1	A	G	10: 92,534,772 (GRCm39)	V246A	probably benign	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Ninl	G	A	2: 150,801,801 (GRCm39)	R156*	probably null	Het
Obscn	T	A	11: 58,960,685 (GRCm39)	I3418F	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Pappa2	T	C	1: 158,684,949 (GRCm39)	N730S	probably damaging	Het
Pcm1	G	A	8: 41,746,715 (GRCm39)	D1305N	probably damaging	Het
Pcsk4	A	T	10: 80,158,938 (GRCm39)	I485N	probably damaging	Het
Phldb2	T	C	16: 45,646,237 (GRCm39)	R111G	probably damaging	Het
Prdm10	T	C	9: 31,252,569 (GRCm39)	F385S	probably damaging	Het
Prkcsh	C	T	9: 21,923,034 (GRCm39)	P351L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rad51c	T	C	11: 87,286,204 (GRCm39)	D251G	probably damaging	Het
Radil	A	G	5: 142,470,918 (GRCm39)	F1088L	probably benign	Het
Rere	C	A	4: 150,699,624 (GRCm39)		probably benign	Het
Rnf167	T	A	11: 70,540,961 (GRCm39)	C196S	probably benign	Het
Robo2	T	A	16: 74,149,633 (GRCm39)	Y65F	probably damaging	Het
Scarf2	G	A	16: 17,621,371 (GRCm39)	C319Y	probably damaging	Het
Sec24c	A	G	14: 20,743,780 (GRCm39)	D995G	probably damaging	Het
Selenbp1	T	C	3: 94,851,211 (GRCm39)	L369S	probably benign	Het
Sgpl1	A	T	10: 60,959,123 (GRCm39)	I53K	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc1a6	A	T	10: 78,635,952 (GRCm39)	Y339F	probably damaging	Het
Smchd1	G	T	17: 71,667,048 (GRCm39)	Y1781*	probably null	Het
Smg1	T	C	7: 117,779,697 (GRCm39)	S1233G	probably benign	Het
Snap91	A	T	9: 86,665,507 (GRCm39)		probably benign	Het
Snx29	T	A	16: 11,238,600 (GRCm39)	L112Q	probably damaging	Het
Sptbn5	T	C	2: 119,889,622 (GRCm39)		probably benign	Het
Srl	A	T	16: 4,310,222 (GRCm39)	H502Q	possibly damaging	Het
St8sia3	A	G	18: 64,404,820 (GRCm39)	M366V	probably benign	Het
Stk19	A	T	17: 35,041,485 (GRCm39)		probably benign	Het
Syngap1	G	A	17: 27,180,423 (GRCm39)	A611T	probably benign	Het
Tas2r113	A	G	6: 132,870,670 (GRCm39)	T233A	possibly damaging	Het
Tbcc	G	A	17: 47,202,145 (GRCm39)	W177*	probably null	Het
Tcstv3	T	A	13: 120,779,618 (GRCm39)		probably null	Het
Trav13-5	T	A	14: 54,033,408 (GRCm39)	C106S	probably damaging	Het
Trmt61a	G	A	12: 111,645,147 (GRCm39)	V28M	possibly damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Urb1	T	C	16: 90,554,715 (GRCm39)	N1839S	probably benign	Het
Ush2a	T	C	1: 188,475,742 (GRCm39)	L2893P	probably damaging	Het
Usp24	G	A	4: 106,217,359 (GRCm39)	V421M	possibly damaging	Het
Vmn1r43	T	C	6: 89,846,892 (GRCm39)	E198G	probably benign	Het
Vps13d	A	C	4: 144,904,626 (GRCm39)	S130A	probably damaging	Het
Zfp426	T	A	9: 20,382,310 (GRCm39)	I211F	probably benign	Het
Znfx1	T	C	2: 166,880,489 (GRCm39)		probably null	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
R1909: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
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'- ACTCAGAGAAGGTCCTGCTC -3'
(R):5'- AGCTATTTGGACAGAACCCC -3'

Sequencing Primer
(F):5'- AGAGAAGGTCCTGCTCATCCTC -3'
(R):5'- ATTTGGACAGAACCCCTTCATTACG -3'

Posted On

2016-02-04