Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Dennd2a'

376965

Institutional Source

Beutler Lab

Gene Symbol

Dennd2a

Ensembl Gene

ENSMUSG00000038456

Gene Name

DENN domain containing 2A

Synonyms

B930096L08Rik

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39439312-39534801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39474093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 414 (S414A)

Ref Sequence

ENSEMBL: ENSMUSP00000116907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036877] [ENSMUST00000154149]

AlphaFold

Q8C4S8

Predicted Effect

probably benign
Transcript: ENSMUST00000036877
AA Change: S414A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
AA Change: S414A

Domain	Start	End	E-Value	Type
Blast:DENN	9	430	1e-149	BLAST
low complexity region	445	457	N/A	INTRINSIC
low complexity region	508	520	N/A	INTRINSIC
uDENN	554	646	2.06e-31	SMART
DENN	653	837	7.1e-76	SMART
dDENN	888	953	1.84e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154149
AA Change: S414A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116907
Gene: ENSMUSG00000038456
AA Change: S414A

Domain	Start	End	E-Value	Type
Blast:DENN	9	420	1e-152	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	C	1: 138,779,903 (GRCm39)	Y116*	probably null	Het
Abtb3	C	T	10: 85,223,242 (GRCm39)	T17M	unknown	Het
Acer3	T	C	7: 97,906,908 (GRCm39)	T91A	possibly damaging	Het
Acsbg3	A	T	17: 57,183,324 (GRCm39)	I22F	possibly damaging	Het
Adam12	T	C	7: 133,774,550 (GRCm39)	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,223,822 (GRCm39)	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,330,374 (GRCm39)	V98I	probably benign	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Alpk1	C	T	3: 127,467,124 (GRCm39)	G1052R	probably damaging	Het
Anln	A	T	9: 22,291,484 (GRCm39)	S115T	possibly damaging	Het
Apob	T	A	12: 8,063,099 (GRCm39)	N3827K	probably damaging	Het
Aqr	G	A	2: 113,980,990 (GRCm39)	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,231,617 (GRCm39)	S123G	probably damaging	Het
Arvcf	C	T	16: 18,216,863 (GRCm39)	R333*	probably null	Het
Brca2	T	A	5: 150,480,402 (GRCm39)	L2724Q	probably damaging	Het
C2cd6	T	A	1: 59,133,893 (GRCm39)	T43S	probably benign	Het
Cacna1h	A	G	17: 25,596,261 (GRCm39)	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,858 (GRCm39)	I26F	possibly damaging	Het
Card10	A	T	15: 78,665,724 (GRCm39)	V673E	possibly damaging	Het
Catspere2	A	G	1: 177,931,515 (GRCm39)	Y478C	unknown	Het
Ccar1	A	G	10: 62,588,997 (GRCm39)	S829P	unknown	Het
Ccdc121	A	G	5: 31,643,596 (GRCm39)	I109V	probably benign	Het
Cdc42bpa	T	C	1: 179,972,200 (GRCm39)	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,220,257 (GRCm39)	C267Y	probably benign	Het
Cep68	G	A	11: 20,189,239 (GRCm39)	T591M	probably benign	Het
Chil4	T	C	3: 106,111,460 (GRCm39)	K218R	probably benign	Het
Cldn14	G	T	16: 93,716,747 (GRCm39)	T33K	possibly damaging	Het
Copa	T	A	1: 171,919,843 (GRCm39)	C140S	probably benign	Het
Coq6	T	C	12: 84,419,070 (GRCm39)	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,521,816 (GRCm39)	P40L	probably damaging	Het
Dpm1	T	C	2: 168,059,679 (GRCm39)	N139S	probably benign	Het
Dpp7	T	A	2: 25,242,770 (GRCm39)		probably null	Het
Ednrb	T	C	14: 104,057,447 (GRCm39)	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Fam135a	G	A	1: 24,063,334 (GRCm39)	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866 (GRCm39)	T275A	probably benign	Het
Fbn1	T	A	2: 125,151,694 (GRCm39)	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,409,527 (GRCm39)	S587P	unknown	Het
Foxr2	A	G	X: 151,913,312 (GRCm39)	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,696,065 (GRCm39)	*124W	probably null	Het
Gm7535	T	A	17: 18,131,333 (GRCm39)		probably benign	Het
H4c1	T	C	13: 23,944,935 (GRCm39)	D69G	probably damaging	Het
Herc3	T	C	6: 58,864,484 (GRCm39)	V706A	probably damaging	Het
Hivep3	A	G	4: 119,980,131 (GRCm39)	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,233,946 (GRCm39)	I382V	probably benign	Het
Ints1	G	T	5: 139,756,911 (GRCm39)	T467N	possibly damaging	Het
Iqca1	G	A	1: 89,973,423 (GRCm39)	T783M	probably damaging	Het
Kng1	A	G	16: 22,886,448 (GRCm39)	K131R	possibly damaging	Het
Krt35	T	C	11: 99,983,956 (GRCm39)	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 101,943,881 (GRCm39)	C64R	probably damaging	Het
Lilrb4b	C	T	10: 51,360,616 (GRCm39)	A272V	possibly damaging	Het
Lrrc37	T	C	11: 103,505,698 (GRCm39)	H2090R	probably benign	Het
Ltn1	A	T	16: 87,195,697 (GRCm39)	C1276*	probably null	Het
Matn1	G	A	4: 130,679,425 (GRCm39)	A360T	probably benign	Het
Minpp1	G	A	19: 32,475,784 (GRCm39)	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904 (GRCm39)	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,195,616 (GRCm39)		probably benign	Het
Ms4a2	A	G	19: 11,595,793 (GRCm39)	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,013,913 (GRCm39)	Y235*	probably null	Het
Myh4	G	T	11: 67,131,880 (GRCm39)	W113C	probably damaging	Het
Nav2	T	A	7: 49,198,182 (GRCm39)	C1270*	probably null	Het
Ncoa5	A	G	2: 164,844,070 (GRCm39)	L111P	probably damaging	Het
Nup107	T	C	10: 117,606,383 (GRCm39)	Y453C	probably damaging	Het
Oca2	C	T	7: 55,980,106 (GRCm39)	Q604*	probably null	Het
Or13a19	T	C	7: 139,903,014 (GRCm39)	M134T	probably benign	Het
Or13p5	A	C	4: 118,591,885 (GRCm39)	H53P	probably benign	Het
Or14j10	A	T	17: 37,934,782 (GRCm39)	V248D	probably damaging	Het
Or5p58	T	A	7: 107,694,303 (GRCm39)	N158I	probably benign	Het
Or8g33	T	C	9: 39,337,531 (GRCm39)	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,416,668 (GRCm39)	G514V	possibly damaging	Het
Pik3cb	A	T	9: 98,983,381 (GRCm39)	C76S	probably damaging	Het
Plk1	T	C	7: 121,767,828 (GRCm39)	V411A	probably damaging	Het
Pole	C	T	5: 110,472,619 (GRCm39)	P1600L	probably damaging	Het
Prr36	T	C	8: 4,260,881 (GRCm39)	T979A	probably benign	Het
Rdh7	T	A	10: 127,721,590 (GRCm39)	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,842,835 (GRCm39)	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,530,891 (GRCm39)	S947T	probably benign	Het
Rtl1	A	G	12: 109,558,138 (GRCm39)	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,841,708 (GRCm39)	M279I	probably damaging	Het
Siae	T	C	9: 37,539,096 (GRCm39)	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,113,148 (GRCm39)	V364I	probably benign	Het
Sltm	G	T	9: 70,496,260 (GRCm39)	V932F	probably damaging	Het
Smad1	A	G	8: 80,076,381 (GRCm39)	L279P	probably damaging	Het
Spag17	G	T	3: 99,958,147 (GRCm39)	G935V	probably damaging	Het
Srgap3	A	G	6: 112,723,895 (GRCm39)	S546P	probably damaging	Het
Stxbp5	T	C	10: 9,684,844 (GRCm39)	I519V	probably benign	Het
Syt16	A	T	12: 74,176,160 (GRCm39)	I10F	probably damaging	Het
Trim43b	C	G	9: 88,973,365 (GRCm39)	G123R	probably damaging	Het
Ubr3	T	C	2: 69,843,475 (GRCm39)	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,380,985 (GRCm39)	W303R	probably benign	Het
Wdr93	T	C	7: 79,435,522 (GRCm39)	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,224,478 (GRCm39)	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776 (GRCm39)	C394Y	possibly damaging	Het

Other mutations in Dennd2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Dennd2a	APN	6	39,500,070 (GRCm39)	missense	probably damaging	1.00
IGL01482:Dennd2a	APN	6	39,457,243 (GRCm39)	missense	probably damaging	0.98
IGL02135:Dennd2a	APN	6	39,457,205 (GRCm39)	nonsense	probably null
IGL02206:Dennd2a	APN	6	39,500,383 (GRCm39)	missense	probably damaging	1.00
IGL02649:Dennd2a	APN	6	39,447,290 (GRCm39)	missense	probably benign	0.11
IGL03057:Dennd2a	APN	6	39,485,182 (GRCm39)	missense	probably damaging	0.98
R0310:Dennd2a	UTSW	6	39,441,135 (GRCm39)	splice site	probably benign
R0326:Dennd2a	UTSW	6	39,474,044 (GRCm39)	missense	probably damaging	1.00
R0360:Dennd2a	UTSW	6	39,485,233 (GRCm39)	missense	probably benign	0.13
R0364:Dennd2a	UTSW	6	39,485,233 (GRCm39)	missense	probably benign	0.13
R0394:Dennd2a	UTSW	6	39,499,746 (GRCm39)	missense	possibly damaging	0.92
R0680:Dennd2a	UTSW	6	39,459,996 (GRCm39)	missense	probably damaging	1.00
R1741:Dennd2a	UTSW	6	39,470,091 (GRCm39)	missense	probably damaging	0.99
R1744:Dennd2a	UTSW	6	39,457,185 (GRCm39)	missense	probably benign	0.26
R2070:Dennd2a	UTSW	6	39,442,053 (GRCm39)	missense	probably damaging	1.00
R3833:Dennd2a	UTSW	6	39,483,657 (GRCm39)	missense	probably damaging	0.98
R3833:Dennd2a	UTSW	6	39,483,651 (GRCm39)	missense	probably damaging	0.97
R4120:Dennd2a	UTSW	6	39,442,030 (GRCm39)	missense	probably damaging	0.99
R4583:Dennd2a	UTSW	6	39,499,776 (GRCm39)	missense	probably damaging	1.00
R4842:Dennd2a	UTSW	6	39,474,044 (GRCm39)	missense	probably damaging	1.00
R4901:Dennd2a	UTSW	6	39,499,621 (GRCm39)	missense	probably benign	0.00
R5065:Dennd2a	UTSW	6	39,472,110 (GRCm39)	critical splice donor site	probably null
R5413:Dennd2a	UTSW	6	39,441,227 (GRCm39)	missense	probably damaging	1.00
R6181:Dennd2a	UTSW	6	39,462,554 (GRCm39)	missense	probably benign	0.14
R6239:Dennd2a	UTSW	6	39,465,750 (GRCm39)	missense	probably damaging	1.00
R6360:Dennd2a	UTSW	6	39,470,076 (GRCm39)	missense	probably benign	0.01
R7115:Dennd2a	UTSW	6	39,483,645 (GRCm39)	missense	probably damaging	1.00
R7419:Dennd2a	UTSW	6	39,500,397 (GRCm39)	missense	probably damaging	1.00
R7567:Dennd2a	UTSW	6	39,499,743 (GRCm39)	missense	probably benign
R7587:Dennd2a	UTSW	6	39,460,069 (GRCm39)	missense	probably damaging	1.00
R7662:Dennd2a	UTSW	6	39,470,037 (GRCm39)	missense	probably benign	0.03
R7781:Dennd2a	UTSW	6	39,470,000 (GRCm39)	missense	probably damaging	0.99
R7962:Dennd2a	UTSW	6	39,457,207 (GRCm39)	missense	possibly damaging	0.91
R8683:Dennd2a	UTSW	6	39,500,137 (GRCm39)	nonsense	probably null
R8961:Dennd2a	UTSW	6	39,462,555 (GRCm39)	missense	probably damaging	0.96
R9424:Dennd2a	UTSW	6	39,485,294 (GRCm39)	nonsense	probably null
R9765:Dennd2a	UTSW	6	39,473,907 (GRCm39)	critical splice donor site	probably null
R9767:Dennd2a	UTSW	6	39,483,709 (GRCm39)	missense	probably damaging	0.98
X0026:Dennd2a	UTSW	6	39,485,301 (GRCm39)	missense	possibly damaging	0.61
Z1177:Dennd2a	UTSW	6	39,500,408 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGCATCCTGGACCTCAAAATCC -3'
(R):5'- TGTCACATACATTTCCACAGTGG -3'

Sequencing Primer
(F):5'- CCAAAGTATGTATTACCCTGGGG -3'
(R):5'- TCCACAGTGGAATGGTAGCAC -3'

Posted On

2016-03-17