Mutagenetix > Incidental Mutation

Incidental Mutation 'R2284:Dip2a'

243251

Institutional Source

Beutler Lab

Gene Symbol

Dip2a

Ensembl Gene

ENSMUSG00000020231

Gene Name

disco interacting protein 2 homolog A

Synonyms

Dip2, Kiaa0184-hp, 4931420H10Rik

MMRRC Submission

040283-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76098581-76181194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76149027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 247 (V247G)

Ref Sequence

ENSEMBL: ENSMUSP00000101057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048]

AlphaFold

Q8BWT5

Predicted Effect

probably benign
Transcript: ENSMUST00000036033
AA Change: V247G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: V247G

Domain	Start	End	E-Value	Type
DMAP_binding	9	122	2.55e-35	SMART
low complexity region	173	208	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
Pfam:AMP-binding	330	806	4.3e-26	PFAM
Pfam:AMP-binding	982	1456	1.4e-52	PFAM
low complexity region	1487	1498	N/A	INTRINSIC
low complexity region	1511	1532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105417
AA Change: V247G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: V247G

Domain	Start	End	E-Value	Type
DMAP_binding	9	122	2.55e-35	SMART
low complexity region	173	208	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
Pfam:AMP-binding	330	806	6.6e-28	PFAM
Pfam:AMP-binding	992	1466	7.3e-65	PFAM
low complexity region	1497	1508	N/A	INTRINSIC
low complexity region	1521	1542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160048
AA Change: V208G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: V208G

Domain	Start	End	E-Value	Type
DMAP_binding	9	83	7.94e-23	SMART
low complexity region	134	169	N/A	INTRINSIC
low complexity region	242	254	N/A	INTRINSIC
Pfam:AMP-binding	291	767	5.3e-26	PFAM
Pfam:AMP-binding	943	1417	1.7e-52	PFAM
low complexity region	1448	1459	N/A	INTRINSIC
low complexity region	1472	1493	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162766

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	C	T	16: 22,976,237 (GRCm39)	Q213*	probably null	Het
Adsl	C	T	15: 80,848,096 (GRCm39)	P278L	probably damaging	Het
Bcas2	T	C	3: 103,085,678 (GRCm39)	S187P	probably damaging	Het
Ccdc88a	T	C	11: 29,444,099 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,491,193 (GRCm39)		probably benign	Het
Csl	T	A	10: 99,594,321 (GRCm39)	D248V	possibly damaging	Het
Fat2	T	C	11: 55,173,186 (GRCm39)	D2509G	probably damaging	Het
Gldn	G	A	9: 54,193,849 (GRCm39)	W14*	probably null	Het
Gm5698	C	T	1: 31,016,964 (GRCm39)	R29Q	possibly damaging	Het
Gm5830	A	T	1: 78,945,415 (GRCm39)		noncoding transcript	Het
Gtf2ird2	A	G	5: 134,246,025 (GRCm39)	D761G	probably benign	Het
Hdac10	T	C	15: 89,011,607 (GRCm39)	Q159R	probably benign	Het
Hhatl	T	C	9: 121,618,648 (GRCm39)	Y118C	probably damaging	Het
Iho1	C	T	9: 108,298,672 (GRCm39)	E49K	probably damaging	Het
Klrd1	A	G	6: 129,575,344 (GRCm39)	H127R	probably benign	Het
Krtap31-1	C	T	11: 99,799,081 (GRCm39)	Q95*	probably null	Het
Map2	C	T	1: 66,453,227 (GRCm39)	P548S	probably damaging	Het
Mki67	A	G	7: 135,301,674 (GRCm39)	V1120A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Muc6	T	C	7: 141,217,837 (GRCm39)	T2279A	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nlrp1b	A	G	11: 71,047,110 (GRCm39)	S1084P	probably benign	Het
Nr2f1	C	A	13: 78,343,581 (GRCm39)	V81F	probably damaging	Het
Nrxn3	T	A	12: 89,477,135 (GRCm39)	N803K	probably damaging	Het
Or5l14	A	G	2: 87,793,137 (GRCm39)	L33P	probably damaging	Het
Ptpre	A	G	7: 135,271,510 (GRCm39)	H375R	probably benign	Het
Tsc1	G	A	2: 28,555,109 (GRCm39)	V200I	possibly damaging	Het
Vmn1r42	A	G	6: 89,821,681 (GRCm39)	I296T	probably benign	Het
Vmn1r67	A	T	7: 10,181,600 (GRCm39)	H288L	probably damaging	Het
Vmn2r45	A	T	7: 8,488,765 (GRCm39)	N88K	probably benign	Het
Wt1	A	G	2: 105,002,666 (GRCm39)	T511A	probably benign	Het

Other mutations in Dip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Dip2a	APN	10	76,149,070 (GRCm39)	missense	probably benign
IGL00849:Dip2a	APN	10	76,128,152 (GRCm39)	missense	probably damaging	0.99
IGL01685:Dip2a	APN	10	76,163,583 (GRCm39)	missense	probably damaging	1.00
IGL01825:Dip2a	APN	10	76,108,514 (GRCm39)	nonsense	probably null
IGL02343:Dip2a	APN	10	76,155,312 (GRCm39)	missense	probably benign	0.00
IGL02437:Dip2a	APN	10	76,134,101 (GRCm39)	missense	probably benign	0.09
IGL02981:Dip2a	APN	10	76,112,255 (GRCm39)	missense	possibly damaging	0.84
IGL03122:Dip2a	APN	10	76,110,880 (GRCm39)	missense	probably benign	0.00
IGL03261:Dip2a	APN	10	76,140,982 (GRCm39)	missense	possibly damaging	0.80
R0369:Dip2a	UTSW	10	76,134,621 (GRCm39)	missense	probably damaging	1.00
R0522:Dip2a	UTSW	10	76,157,365 (GRCm39)	missense	probably benign	0.03
R0962:Dip2a	UTSW	10	76,128,266 (GRCm39)	unclassified	probably benign
R1164:Dip2a	UTSW	10	76,112,231 (GRCm39)	missense	possibly damaging	0.72
R1309:Dip2a	UTSW	10	76,115,610 (GRCm39)	missense	probably damaging	1.00
R1426:Dip2a	UTSW	10	76,115,654 (GRCm39)	unclassified	probably benign
R1636:Dip2a	UTSW	10	76,157,412 (GRCm39)	missense	probably benign	0.01
R1823:Dip2a	UTSW	10	76,114,336 (GRCm39)	nonsense	probably null
R1830:Dip2a	UTSW	10	76,153,797 (GRCm39)	missense	probably damaging	1.00
R1876:Dip2a	UTSW	10	76,153,925 (GRCm39)	missense	probably damaging	1.00
R2369:Dip2a	UTSW	10	76,149,030 (GRCm39)	missense	probably benign
R4050:Dip2a	UTSW	10	76,114,441 (GRCm39)	missense	probably damaging	1.00
R4089:Dip2a	UTSW	10	76,114,323 (GRCm39)	splice site	probably null
R4231:Dip2a	UTSW	10	76,155,304 (GRCm39)	missense	probably damaging	1.00
R4715:Dip2a	UTSW	10	76,132,240 (GRCm39)	missense	probably benign	0.34
R4752:Dip2a	UTSW	10	76,112,491 (GRCm39)	missense	probably damaging	1.00
R4846:Dip2a	UTSW	10	76,157,327 (GRCm39)	missense	probably damaging	1.00
R4849:Dip2a	UTSW	10	76,130,367 (GRCm39)	missense	probably damaging	1.00
R4892:Dip2a	UTSW	10	76,116,593 (GRCm39)	missense	probably benign	0.02
R4998:Dip2a	UTSW	10	76,155,390 (GRCm39)	nonsense	probably null
R5068:Dip2a	UTSW	10	76,153,877 (GRCm39)	missense	possibly damaging	0.82
R5141:Dip2a	UTSW	10	76,106,287 (GRCm39)	missense	probably damaging	1.00
R5253:Dip2a	UTSW	10	76,135,831 (GRCm39)	missense	probably damaging	1.00
R5304:Dip2a	UTSW	10	76,130,357 (GRCm39)	missense	possibly damaging	0.67
R5324:Dip2a	UTSW	10	76,132,227 (GRCm39)	missense	probably damaging	1.00
R5369:Dip2a	UTSW	10	76,128,194 (GRCm39)	missense	probably damaging	1.00
R6272:Dip2a	UTSW	10	76,122,241 (GRCm39)	makesense	probably null
R6884:Dip2a	UTSW	10	76,108,366 (GRCm39)	critical splice donor site	probably null
R7143:Dip2a	UTSW	10	76,133,625 (GRCm39)	missense	probably damaging	1.00
R7247:Dip2a	UTSW	10	76,108,366 (GRCm39)	critical splice donor site	probably null
R7252:Dip2a	UTSW	10	76,109,036 (GRCm39)	missense	not run
R7327:Dip2a	UTSW	10	76,108,396 (GRCm39)	missense	probably benign	0.41
R7334:Dip2a	UTSW	10	76,110,080 (GRCm39)	missense	possibly damaging	0.91
R7349:Dip2a	UTSW	10	76,121,426 (GRCm39)	missense	probably damaging	1.00
R7360:Dip2a	UTSW	10	76,114,394 (GRCm39)	missense	probably damaging	1.00
R7513:Dip2a	UTSW	10	76,149,069 (GRCm39)	missense	probably benign
R7793:Dip2a	UTSW	10	76,114,417 (GRCm39)	missense	probably benign	0.06
R7794:Dip2a	UTSW	10	76,112,459 (GRCm39)	missense	probably damaging	1.00
R7819:Dip2a	UTSW	10	76,126,862 (GRCm39)	missense	probably benign	0.06
R8079:Dip2a	UTSW	10	76,123,155 (GRCm39)	missense	probably benign
R8280:Dip2a	UTSW	10	76,100,610 (GRCm39)	missense	possibly damaging	0.75
R8281:Dip2a	UTSW	10	76,112,438 (GRCm39)	missense	probably damaging	1.00
R8286:Dip2a	UTSW	10	76,122,297 (GRCm39)	missense	probably benign
R8350:Dip2a	UTSW	10	76,100,690 (GRCm39)	missense	probably damaging	1.00
R8450:Dip2a	UTSW	10	76,100,690 (GRCm39)	missense	probably damaging	1.00
R8525:Dip2a	UTSW	10	76,110,115 (GRCm39)	critical splice acceptor site	probably null
R8824:Dip2a	UTSW	10	76,114,320 (GRCm39)	critical splice donor site	probably null
R8897:Dip2a	UTSW	10	76,110,098 (GRCm39)	missense	probably benign	0.22
R9039:Dip2a	UTSW	10	76,163,553 (GRCm39)	missense	probably benign	0.00
R9286:Dip2a	UTSW	10	76,138,096 (GRCm39)	missense	probably benign	0.05
R9504:Dip2a	UTSW	10	76,132,189 (GRCm39)	missense	probably damaging	1.00
R9523:Dip2a	UTSW	10	76,112,438 (GRCm39)	missense	probably damaging	1.00
R9628:Dip2a	UTSW	10	76,142,993 (GRCm39)	missense	probably damaging	0.99
R9732:Dip2a	UTSW	10	76,110,077 (GRCm39)	missense	probably benign	0.11
Z1088:Dip2a	UTSW	10	76,121,462 (GRCm39)	missense	probably benign	0.06
Z1176:Dip2a	UTSW	10	76,116,654 (GRCm39)	missense	probably damaging	0.97
Z1176:Dip2a	UTSW	10	76,102,157 (GRCm39)	missense	possibly damaging	0.94
Z1177:Dip2a	UTSW	10	76,132,234 (GRCm39)	missense	probably damaging	1.00
Z1177:Dip2a	UTSW	10	76,102,156 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- ACAGTGGCCTAATTCCCCTC -3'
(R):5'- TGAATAGAAACTCACTGCCTGC -3'

Sequencing Primer
(F):5'- GCTGTCTATGATAACATTCACTGCAC -3'
(R):5'- ACTGCCTGCTGAATTAATCACTG -3'

Posted On

2014-10-16