Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Dennd2d'

57326

Institutional Source

Beutler Lab

Gene Symbol

Dennd2d

Ensembl Gene

ENSMUSG00000027901

Gene Name

DENN domain containing 2D

Synonyms

2010308M01Rik

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

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

Stock #

R0648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106389745-106410346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106407871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 450 (I450M)

Ref Sequence

ENSEMBL: ENSMUSP00000029508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029508] [ENSMUST00000039153] [ENSMUST00000068301] [ENSMUST00000121231] [ENSMUST00000183271] [ENSMUST00000192438]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029508
AA Change: I450M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: I450M

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: ENSMUST00000039153

SMART Domains

Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	81	229	6.4e-23	PFAM
transmembrane domain	249	271	N/A	INTRINSIC
transmembrane domain	281	303	N/A	INTRINSIC
transmembrane domain	316	338	N/A	INTRINSIC
transmembrane domain	370	389	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061206
AA Change: I453M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053035
Gene: ENSMUSG00000027901
AA Change: I453M

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

probably benign
Transcript: ENSMUST00000068301

SMART Domains

Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	81	328	3.2e-21	PFAM
transmembrane domain	370	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121231

SMART Domains

Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	83	158	7.4e-18	PFAM
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
transmembrane domain	248	270	N/A	INTRINSIC
transmembrane domain	285	304	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	370	389	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183271
AA Change: I460M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
AA Change: I460M

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

probably benign
Transcript: ENSMUST00000192438

SMART Domains

Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	81	215	2.3e-20	PFAM
transmembrane domain	227	246	N/A	INTRINSIC

Meta Mutation Damage Score

0.1386

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,184,632 (GRCm39)	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,225,934 (GRCm39)	I87V	probably benign	Het
Arid1a	A	G	4: 133,412,515 (GRCm39)	Y1560H	unknown	Het
Bcor	C	T	X: 11,925,290 (GRCm39)	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,232,057 (GRCm39)	D179E	probably damaging	Het
Ccdc168	A	G	1: 44,095,723 (GRCm39)	S1792P	possibly damaging	Het
Ccdc18	T	A	5: 108,283,426 (GRCm39)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,322,853 (GRCm39)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,571,200 (GRCm39)	T80A	probably benign	Het
Cdh20	T	A	1: 109,993,337 (GRCm39)		probably benign	Het
Cenpe	G	A	3: 134,935,843 (GRCm39)	G426D	probably damaging	Het
Cenpt	A	G	8: 106,571,592 (GRCm39)	V487A	probably damaging	Het
Clec2m	A	G	6: 129,307,932 (GRCm39)	F46L	probably benign	Het
Col4a1	G	A	8: 11,296,892 (GRCm39)	P84S	unknown	Het
Dhps	C	A	8: 85,799,911 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,882,337 (GRCm39)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,817,265 (GRCm39)		probably benign	Het
Egflam	T	C	15: 7,237,190 (GRCm39)	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,992,459 (GRCm39)	T303A	probably benign	Het
Fam167b	T	C	4: 129,472,150 (GRCm39)	K7E	probably benign	Het
Fgd3	T	C	13: 49,450,049 (GRCm39)	I67V	probably benign	Het
Fhip1a	A	C	3: 85,637,921 (GRCm39)	V126G	probably damaging	Het
Fn1	A	T	1: 71,636,744 (GRCm39)	V2045D	possibly damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,503,047 (GRCm39)	N154Y	probably benign	Het
H2bc21	A	G	3: 96,128,851 (GRCm39)	S124G	probably benign	Het
Haus8	C	A	8: 71,709,174 (GRCm39)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,953,836 (GRCm39)	L79Q	probably damaging	Het
Impdh2	T	C	9: 108,440,665 (GRCm39)	Y83H	probably benign	Het
Lama2	T	C	10: 26,865,372 (GRCm39)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,536,307 (GRCm39)	S199P	probably benign	Het
Moap1	T	C	12: 102,708,776 (GRCm39)	T258A	probably benign	Het
Mrps35	C	A	6: 146,957,443 (GRCm39)	S156*	probably null	Het
Mrtfa	A	G	15: 80,901,121 (GRCm39)	S457P	probably damaging	Het
Mtbp	C	T	15: 55,466,597 (GRCm39)	P537S	probably benign	Het
Ncstn	C	A	1: 171,895,454 (GRCm39)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,407,474 (GRCm39)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,584,905 (GRCm39)	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,775,706 (GRCm39)	N383K	probably damaging	Het
Or13p4	C	T	4: 118,547,269 (GRCm39)	V127I	probably benign	Het
Or6c33	A	G	10: 129,853,350 (GRCm39)	N40S	probably damaging	Het
Parp1	C	T	1: 180,428,005 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,911 (GRCm39)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,970,962 (GRCm39)	I269V	possibly damaging	Het
Polr1f	C	T	12: 33,487,999 (GRCm39)	Q305*	probably null	Het
Ppp1r36dn	A	G	12: 76,498,070 (GRCm39)		noncoding transcript	Het
Qrich1	T	A	9: 108,422,076 (GRCm39)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,004,752 (GRCm39)		probably benign	Het
Rell1	G	A	5: 64,082,088 (GRCm39)	T271M	probably benign	Het
Rgl1	A	G	1: 152,412,016 (GRCm39)		probably null	Het
Rph3a	C	T	5: 121,097,333 (GRCm39)	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,739,219 (GRCm39)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,316,339 (GRCm39)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,280,938 (GRCm39)	D37G	probably benign	Het
Siah2	A	G	3: 58,583,635 (GRCm39)	V217A	probably damaging	Het
Sik2	T	C	9: 50,810,045 (GRCm39)	D506G	probably benign	Het
Skap2	A	C	6: 51,856,765 (GRCm39)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,028,659 (GRCm39)		probably benign	Het
Snai3	G	T	8: 123,181,733 (GRCm39)	F241L	probably damaging	Het
Speg	T	C	1: 75,404,622 (GRCm39)	S2805P	probably benign	Het
Spink5	A	T	18: 44,132,864 (GRCm39)		probably benign	Het
Tctn1	C	T	5: 122,389,761 (GRCm39)	E254K	probably benign	Het
Tdrd3	C	T	14: 87,709,618 (GRCm39)	T100M	probably damaging	Het
Tex47	T	C	5: 7,355,215 (GRCm39)	V132A	probably benign	Het
Thbs3	A	G	3: 89,123,972 (GRCm39)		probably null	Het
Tigit	T	A	16: 43,482,401 (GRCm39)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm39)	I148T	probably benign	Het
Tmem97	A	G	11: 78,441,365 (GRCm39)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,839,474 (GRCm39)		probably null	Het
Trp53bp1	A	G	2: 121,066,188 (GRCm39)	V846A	probably benign	Het
Tulp2	T	G	7: 45,169,210 (GRCm39)	I259S	probably damaging	Het
Ubxn1	G	A	19: 8,851,612 (GRCm39)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,337,460 (GRCm39)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 109,143,782 (GRCm39)	M723V	probably benign	Het
Xndc1	T	C	7: 101,728,031 (GRCm39)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,986,294 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,862 (GRCm39)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,543,877 (GRCm39)	N52K	probably benign	Het
Zfp42	A	G	8: 43,749,015 (GRCm39)	V162A	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
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
R1652:Dennd2d	UTSW	3	106,394,317 (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'- ATGTCTGTTTATCGCCCAGCAGCC -3'
(R):5'- GCTCCCAGATTCACACACCACTTTG -3'

Sequencing Primer
(F):5'- GGTTTTTTGCttgtttgtttttgag -3'
(R):5'- CTGCATTATCAGTTGGAAGAAGGC -3'

Posted On

2013-07-11