Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Dennd2c'

706903

Institutional Source

Beutler Lab

Gene Symbol

Dennd2c

Ensembl Gene

ENSMUSG00000007379

Gene Name

DENN/MADD domain containing 2C

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103102604-103169769 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103131561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 8 (D8E)

Ref Sequence

ENSEMBL: ENSMUSP00000127187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172288] [ENSMUST00000173206]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000172288
AA Change: D8E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: D8E

Domain	Start	End	E-Value	Type
uDENN	481	571	1.01e-25	SMART
DENN	578	762	3.36e-77	SMART
dDENN	806	873	1.15e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173206
AA Change: D8E

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: D8E

Domain	Start	End	E-Value	Type
uDENN	424	514	1.01e-25	SMART
DENN	521	705	3.36e-77	SMART
dDENN	749	816	1.15e-20	SMART

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,050,840	D1485N		Het
Ankrd55	T	G	13: 112,323,143	D90E	probably damaging	Het
Arid1b	C	A	17: 4,995,309	P124Q	unknown	Het
Atxn2	C	T	5: 121,785,362	P698L	probably damaging	Het
B020004J07Rik	C	T	4: 101,837,947	V56M	probably damaging	Het
Bend7	T	C	2: 4,752,720	V191A	probably benign	Het
C2cd4a	T	G	9: 67,831,497	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,092,714	Q830*	probably null	Het
Camta1	T	C	4: 151,144,017	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,773,045	S443P	probably benign	Het
Cass4	T	G	2: 172,427,886	F629L	probably benign	Het
Ccdc149	T	A	5: 52,405,057	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,277,751	V263A	probably damaging	Het
Cfc1	C	T	1: 34,537,372	R145C	probably damaging	Het
Cnn1	C	A	9: 22,108,054	D239E	probably damaging	Het
Cobll1	C	T	2: 65,103,172	S493N	probably benign	Het
Cox20	A	T	1: 178,319,206	K13*	probably null	Het
Dclk1	G	A	3: 55,463,079	S340N	probably damaging	Het
Dnajc10	A	T	2: 80,344,983	K571N	probably benign	Het
Dock7	T	A	4: 99,008,043	I58F		Het
Dpy19l4	A	G	4: 11,304,298		probably null	Het
Eef2k	A	G	7: 120,884,695	D218G	probably benign	Het
Eya4	G	T	10: 23,113,946	T504K	probably damaging	Het
Fam222a	T	C	5: 114,611,337	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,857,759	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,623,613	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,601,252	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,175,817		probably benign	Het
Gm21028	A	T	7: 42,578,480	C37S	probably damaging	Het
Gpr179	G	T	11: 97,338,725	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,323,403	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,899,285	T1181I	probably benign	Het
Herc4	G	A	10: 63,308,346	V753I	probably damaging	Het
Htra1	A	T	7: 130,962,121	K241*	probably null	Het
Kat6b	A	G	14: 21,670,025	I1482V	probably benign	Het
Kif19a	G	T	11: 114,789,207	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,355,374	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,511,343	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987	R94W	probably damaging	Het
Map4	A	G	9: 110,035,155	T483A	probably benign	Het
Mettl3	C	A	14: 52,296,668	C483F	probably damaging	Het
Myh13	A	G	11: 67,363,283	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,179,383	V414I	probably damaging	Het
Myh7b	C	T	2: 155,628,802	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,359,602	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,423,185	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,459,652	S786P	probably damaging	Het
Olfr1000	T	A	2: 85,607,987	K308*	probably null	Het
Olfr775	A	G	10: 129,251,103	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,397,335	V141L	probably benign	Het
Phip	G	T	9: 82,875,359	R1587S	probably damaging	Het
Plce1	A	G	19: 38,737,933	E1448G	probably damaging	Het
Plrg1	T	C	3: 83,069,001	S326P	possibly damaging	Het
Pom121l2	T	A	13: 21,981,682	V41E	probably damaging	Het
Preb	G	T	5: 30,956,329	S311*	probably null	Het
Prss33	T	A	17: 23,834,749	D118V	probably damaging	Het
Pum1	C	A	4: 130,771,898	Y1008*	probably null	Het
Rassf2	G	A	2: 132,004,406	R144C	probably damaging	Het
Rnf123	A	T	9: 108,067,505	M429K	probably benign	Het
Rtl1	T	A	12: 109,590,857	H1516L	probably benign	Het
Scyl3	T	A	1: 163,936,438	N124K	probably damaging	Het
Sec24b	A	G	3: 130,007,571	S488P	probably benign	Het
Shc4	T	A	2: 125,678,698	D277V	probably damaging	Het
Sorl1	T	A	9: 42,001,518	D1389V	probably damaging	Het
Srcap	T	A	7: 127,559,640	I2896N	unknown	Het
Steap3	T	A	1: 120,227,834	Y465F	probably benign	Het
Tecta	C	A	9: 42,372,897	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,160,854		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem178b	G	A	6: 40,004,247	W72*	probably null	Het
Tmem235	T	G	11: 117,860,839	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,134,460	T366K	probably benign	Het
Trdv2-1	C	A	14: 53,946,391	P27T	probably benign	Het
Trim37	G	T	11: 87,167,502	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 182,157,437	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,547,250	S543T	probably benign	Het
Wdpcp	C	T	11: 21,711,522	P265S	probably benign	Het
Wdr64	T	C	1: 175,772,305	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,428,930	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,317,399	I270F	probably damaging	Het
Zfp715	A	G	7: 43,299,423	L371P	probably damaging	Het

Other mutations in Dennd2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Dennd2c	APN	3	103156908	missense	probably damaging	1.00
IGL01791:Dennd2c	APN	3	103166425	missense	probably benign	0.19
IGL02100:Dennd2c	APN	3	103153675	missense	probably damaging	0.98
IGL02119:Dennd2c	APN	3	103137243	missense	probably damaging	0.99
IGL02395:Dennd2c	APN	3	103157765	missense	probably benign	0.00
IGL02631:Dennd2c	APN	3	103156071	missense	possibly damaging	0.56
IGL02895:Dennd2c	APN	3	103137203	missense	possibly damaging	0.76
convolution	UTSW	3	103156107	missense	probably damaging	1.00
Resolution	UTSW	3	103133345	missense	possibly damaging	0.51
R1749:Dennd2c	UTSW	3	103132036	missense	possibly damaging	0.92
R1931:Dennd2c	UTSW	3	103133252	missense	probably benign	0.32
R1964:Dennd2c	UTSW	3	103166491	missense	probably damaging	1.00
R1972:Dennd2c	UTSW	3	103131698	missense	probably benign	0.01
R1973:Dennd2c	UTSW	3	103131698	missense	probably benign	0.01
R2025:Dennd2c	UTSW	3	103131689	missense	possibly damaging	0.71
R2350:Dennd2c	UTSW	3	103132001	missense	probably benign	0.00
R2373:Dennd2c	UTSW	3	103156842	missense	probably damaging	0.99
R4555:Dennd2c	UTSW	3	103131886	missense	probably benign	0.00
R4916:Dennd2c	UTSW	3	103131824	missense	probably benign	0.00
R5560:Dennd2c	UTSW	3	103161555	missense	probably damaging	1.00
R6291:Dennd2c	UTSW	3	103131609	nonsense	probably null
R6395:Dennd2c	UTSW	3	103149224	critical splice donor site	probably null
R6567:Dennd2c	UTSW	3	103132019	missense	probably benign	0.02
R6681:Dennd2c	UTSW	3	103131661	missense	probably benign	0.01
R7106:Dennd2c	UTSW	3	103131577	missense	possibly damaging	0.82
R7162:Dennd2c	UTSW	3	103156107	missense	probably damaging	1.00
R7514:Dennd2c	UTSW	3	103163062	missense	probably benign	0.00
R7591:Dennd2c	UTSW	3	103133345	missense	possibly damaging	0.51
R7698:Dennd2c	UTSW	3	103165043	missense	possibly damaging	0.65
R8069:Dennd2c	UTSW	3	103165130	missense	probably damaging	1.00
R8086:Dennd2c	UTSW	3	103133345	missense	possibly damaging	0.51
R8247:Dennd2c	UTSW	3	103152321	missense	probably damaging	0.99
R8347:Dennd2c	UTSW	3	103157709	missense	probably damaging	0.99
R8829:Dennd2c	UTSW	3	103152404	critical splice donor site	probably null
R8832:Dennd2c	UTSW	3	103152404	critical splice donor site	probably null
R9131:Dennd2c	UTSW	3	103157715	missense	probably damaging	1.00
R9350:Dennd2c	UTSW	3	103131992	missense	possibly damaging	0.79
R9520:Dennd2c	UTSW	3	103137168	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAGCTCGGTGATGAAAACTG -3'
(R):5'- GACATCCGTGTTTCTGGGTAAAG -3'

Sequencing Primer
(F):5'- CAGCGTTTTCCAGCTAACT -3'
(R):5'- TTTCCTCACCAGTGGGACG -3'

Posted On

2022-04-18