Mutagenetix > Incidental Mutation

Incidental Mutation 'R3015:Dbndd2'

257627

Institutional Source

Beutler Lab

Gene Symbol

Dbndd2

Ensembl Gene

ENSMUSG00000017734

Gene Name

dysbindin domain containing 2

Synonyms

D2Bwg0891e, 1110017A21Rik, NKIP, dysbindin (dystrobrevin binding protein 1) domain containing 2, 2900022J10Rik

MMRRC Submission

040536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3015 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164328026-164335239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 164330270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 34 (V34D)

Ref Sequence

ENSEMBL: ENSMUSP00000128551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017878] [ENSMUST00000069385] [ENSMUST00000109349] [ENSMUST00000109350] [ENSMUST00000143690] [ENSMUST00000149287] [ENSMUST00000164863]

AlphaFold

Q9CRD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000017878
AA Change: V34D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017878
Gene: ENSMUSG00000017734
AA Change: V34D

Domain	Start	End	E-Value	Type
Pfam:Dysbindin	1	151	9.5e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069385
AA Change: V34D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064437
Gene: ENSMUSG00000017734
AA Change: V34D

Domain	Start	End	E-Value	Type
Pfam:Dysbindin	1	151	9.5e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109349
AA Change: V34D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104973
Gene: ENSMUSG00000017734
AA Change: V34D

Domain	Start	End	E-Value	Type
Pfam:Dysbindin	4	141	1.1e-33	PFAM
low complexity region	143	156	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109350
AA Change: V34D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104974
Gene: ENSMUSG00000017734
AA Change: V34D

Domain	Start	End	E-Value	Type
Pfam:Dysbindin	1	151	9.5e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143690
AA Change: V34D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122187
Gene: ENSMUSG00000017734
AA Change: V34D

Domain	Start	End	E-Value	Type
Pfam:Dysbindin	1	119	5.3e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149287
AA Change: V34D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128551
Gene: ENSMUSG00000017734
AA Change: V34D

Domain	Start	End	E-Value	Type
Pfam:Dysbindin	1	151	9.5e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164863

SMART Domains

Protein: ENSMUSP00000126658
Gene: ENSMUSG00000090996

Domain	Start	End	E-Value	Type
Pfam:SYS1	5	78	6.7e-22	PFAM

Meta Mutation Damage Score

0.5466

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,849,913 (GRCm39)	H380R	probably benign	Het
Aff3	A	T	1: 38,249,649 (GRCm39)	I486N	probably benign	Het
Bltp1	T	A	3: 36,929,611 (GRCm39)	F76Y	probably damaging	Het
Cfap44	A	C	16: 44,230,832 (GRCm39)	D271A	probably benign	Het
Erc2	T	A	14: 27,733,732 (GRCm39)		probably null	Het
Fcgbp	T	C	7: 27,774,838 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,417,402 (GRCm39)	S2036P	probably damaging	Het
Golph3l	A	G	3: 95,499,024 (GRCm39)		probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Ifrd2	G	A	9: 107,467,221 (GRCm39)	G60S	probably null	Het
Ints9	T	A	14: 65,187,727 (GRCm39)	W3R	probably benign	Het
Jmjd1c	A	G	10: 66,993,711 (GRCm39)	E64G	probably damaging	Het
Katnip	T	A	7: 125,465,512 (GRCm39)	H1321Q	probably damaging	Het
Matn3	A	C	12: 9,002,217 (GRCm39)	Q143P	probably damaging	Het
Myo18a	A	T	11: 77,749,846 (GRCm39)		probably benign	Het
Nop9	T	C	14: 55,988,631 (GRCm39)	S358P	probably benign	Het
Pard3b	T	C	1: 62,384,037 (GRCm39)	S801P	probably damaging	Het
Pax2	T	C	19: 44,804,463 (GRCm39)	F268L	probably damaging	Het
Pik3r1	A	G	13: 101,823,771 (GRCm39)	I538T	probably damaging	Het
Plekha8	T	C	6: 54,599,107 (GRCm39)	S214P	probably benign	Het
Ppme1	T	C	7: 99,981,084 (GRCm39)	H352R	probably damaging	Het
Ppp1r26	A	C	2: 28,342,314 (GRCm39)	D648A	probably damaging	Het
Prom1	C	A	5: 44,191,733 (GRCm39)	V337F	probably damaging	Het
Rapgef4	T	C	2: 72,028,717 (GRCm39)	I378T	probably damaging	Het
Rnf115	T	C	3: 96,661,675 (GRCm39)	S43P	probably damaging	Het
Rnf216	A	G	5: 143,061,480 (GRCm39)		probably null	Het
Scn7a	G	T	2: 66,530,240 (GRCm39)	Q702K	probably benign	Het
Shisal2b	T	A	13: 104,994,899 (GRCm39)	I83F	possibly damaging	Het
Slc2a1	T	A	4: 118,989,340 (GRCm39)	N13K	probably damaging	Het
Tnr	A	G	1: 159,715,829 (GRCm39)	I864V	probably benign	Het
Tspyl3	A	T	2: 153,066,650 (GRCm39)	M196K	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Umod	T	C	7: 119,071,763 (GRCm39)	D326G	probably damaging	Het
Upf2	A	G	2: 5,980,890 (GRCm39)	D492G	unknown	Het
Vash1	A	G	12: 86,732,194 (GRCm39)	T126A	probably benign	Het
Vsig10l	T	A	7: 43,116,881 (GRCm39)	I574K	possibly damaging	Het

Other mutations in Dbndd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02311:Dbndd2	APN	2	164,330,622 (GRCm39)	missense	possibly damaging	0.94
R0834:Dbndd2	UTSW	2	164,332,122 (GRCm39)	missense	possibly damaging	0.53
R1897:Dbndd2	UTSW	2	164,330,584 (GRCm39)	missense	probably damaging	1.00
R2030:Dbndd2	UTSW	2	164,330,563 (GRCm39)	missense	probably damaging	1.00
R4881:Dbndd2	UTSW	2	164,332,225 (GRCm39)	utr 3 prime	probably benign
R5073:Dbndd2	UTSW	2	164,332,224 (GRCm39)	utr 3 prime	probably benign
R5455:Dbndd2	UTSW	2	164,332,113 (GRCm39)	missense	possibly damaging	0.82
R6143:Dbndd2	UTSW	2	164,330,206 (GRCm39)	missense	probably damaging	0.99
R7558:Dbndd2	UTSW	2	164,332,136 (GRCm39)	missense	probably benign	0.00
R8677:Dbndd2	UTSW	2	164,330,522 (GRCm39)	missense	probably damaging	1.00
R9249:Dbndd2	UTSW	2	164,328,077 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCCCCTTTGTGGAACCAG -3'
(R):5'- TGGTCACATGTACATGCAAGAC -3'

Sequencing Primer
(F):5'- TGGGATGCCAGCTGTCAAG -3'
(R):5'- TGTACATGCAAGACCCCAAATTGG -3'

Posted On

2015-01-11