Mutagenetix > Incidental Mutation

Incidental Mutation 'R1450:Dgcr2'

162174

Institutional Source

Beutler Lab

Gene Symbol

Dgcr2

Ensembl Gene

ENSMUSG00000003166

Gene Name

DiGeorge syndrome critical region gene 2

Synonyms

Dgsc, Dgcr2, Idd, 9930034O06Rik, Lan, Sez12, DGS-C

MMRRC Submission

039505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17658219-17709592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17674678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 243 (H243R)

Ref Sequence

ENSEMBL: ENSMUSP00000064603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117082] [ENSMUST00000117945] [ENSMUST00000150068] [ENSMUST00000155943]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000012152
AA Change: H246R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166
AA Change: H246R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	114	265	1.06e-14	SMART
VWC	270	331	1.42e-9	SMART
transmembrane domain	345	367	N/A	INTRINSIC
low complexity region	369	377	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066127
AA Change: H243R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166
AA Change: H243R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
transmembrane domain	274	296	N/A	INTRINSIC
low complexity region	298	306	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117082
AA Change: H245R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166
AA Change: H245R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	5.86e-11	SMART
CLECT	113	264	1.06e-14	SMART
VWC	269	330	1.42e-9	SMART
transmembrane domain	344	366	N/A	INTRINSIC
low complexity region	368	376	N/A	INTRINSIC
low complexity region	437	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117945
AA Change: H243R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166
AA Change: H243R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
VWC	267	328	1.42e-9	SMART
transmembrane domain	342	364	N/A	INTRINSIC
low complexity region	366	374	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135229

Predicted Effect

probably benign
Transcript: ENSMUST00000150068
AA Change: H246R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470
AA Change: H246R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	114	265	1.06e-14	SMART
VWC	270	331	1.42e-9	SMART
transmembrane domain	345	367	N/A	INTRINSIC
low complexity region	369	377	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC
low complexity region	559	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155611

Predicted Effect

probably benign
Transcript: ENSMUST00000155943
AA Change: H23R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231750

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

96% (73/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,380,531 (GRCm39)		probably benign	Het
Adh4	C	T	3: 138,129,935 (GRCm39)	P254S	probably damaging	Het
Amfr	T	C	8: 94,714,375 (GRCm39)	T223A	probably benign	Het
Ank2	T	C	3: 126,750,951 (GRCm39)	T412A	possibly damaging	Het
Bag6	T	A	17: 35,360,934 (GRCm39)	D422E	probably benign	Het
Ccdc185	T	G	1: 182,575,129 (GRCm39)	Q520P	possibly damaging	Het
Cfap276	T	A	3: 108,449,799 (GRCm39)		probably null	Het
Clock	G	A	5: 76,410,578 (GRCm39)	Q98*	probably null	Het
Cngb3	A	T	4: 19,395,922 (GRCm39)		probably benign	Het
Csmd1	T	G	8: 15,995,180 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,365,130 (GRCm39)	L1636P	probably damaging	Het
Dennd4a	A	G	9: 64,818,947 (GRCm39)	I1701V	probably benign	Het
Dimt1	A	G	13: 107,084,151 (GRCm39)	N46S	probably benign	Het
Dnah9	T	C	11: 65,818,612 (GRCm39)	Y58C	probably damaging	Het
Dsg1b	T	A	18: 20,542,241 (GRCm39)	V916E	probably damaging	Het
Dst	T	C	1: 34,227,476 (GRCm39)	S1690P	probably damaging	Het
Dst	T	A	1: 34,251,340 (GRCm39)	I2131K	probably damaging	Het
Epb41l1	T	C	2: 156,353,745 (GRCm39)		probably benign	Het
Fem1a	T	C	17: 56,564,579 (GRCm39)	V224A	probably damaging	Het
Got2	C	T	8: 96,598,614 (GRCm39)	E203K	probably benign	Het
Hcar2	A	T	5: 124,002,813 (GRCm39)	I230N	probably damaging	Het
Herc3	A	T	6: 58,853,500 (GRCm39)	K554*	probably null	Het
Hfm1	A	G	5: 107,066,324 (GRCm39)	F35L	probably damaging	Het
Hmcn1	A	G	1: 150,528,257 (GRCm39)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hs2st1	C	T	3: 144,140,479 (GRCm39)		probably benign	Het
Igfbp5	T	A	1: 72,913,048 (GRCm39)	D84V	probably benign	Het
Ints3	C	A	3: 90,340,135 (GRCm39)	L41F	probably damaging	Het
Ipo5	T	C	14: 121,181,805 (GRCm39)	V966A	probably benign	Het
Kif26a	C	T	12: 112,140,286 (GRCm39)	T505M	probably damaging	Het
Kpna2	A	G	11: 106,888,135 (GRCm39)	S2P	probably benign	Het
Lct	A	G	1: 128,235,640 (GRCm39)	S456P	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc7	T	G	3: 157,892,681 (GRCm39)	I323L	possibly damaging	Het
Ly6g	A	G	15: 75,030,482 (GRCm39)	K77R	probably benign	Het
Maea	T	C	5: 33,523,144 (GRCm39)		probably null	Het
Marco	A	T	1: 120,404,474 (GRCm39)		probably benign	Het
Mcmbp	G	T	7: 128,317,655 (GRCm39)		probably benign	Het
Mtcl3	A	T	10: 29,023,736 (GRCm39)	N361I	probably damaging	Het
Mtr	T	A	13: 12,208,619 (GRCm39)	R1017W	probably damaging	Het
Myo15a	T	A	11: 60,386,308 (GRCm39)	I1811N	probably damaging	Het
Nbeal2	G	A	9: 110,462,740 (GRCm39)		probably benign	Het
Nlrp10	A	G	7: 108,524,595 (GRCm39)	V295A	probably damaging	Het
Or10ak7	T	C	4: 118,791,707 (GRCm39)	T111A	probably benign	Het
Or51ac3	A	G	7: 103,213,658 (GRCm39)	V276A	probably benign	Het
Or5e1	A	T	7: 108,354,719 (GRCm39)	I219F	probably damaging	Het
Pde4b	A	T	4: 102,458,832 (GRCm39)	Q496L	probably damaging	Het
Peg12	C	A	7: 62,113,324 (GRCm39)	G258*	probably null	Het
Pigc	A	G	1: 161,798,822 (GRCm39)	Y268C	probably benign	Het
Pnisr	G	T	4: 21,874,912 (GRCm39)		probably null	Het
Poteg	T	C	8: 27,937,871 (GRCm39)	F5S	probably benign	Het
Prss40	T	A	1: 34,595,178 (GRCm39)	I101F	probably benign	Het
Ptges3l	T	A	11: 101,312,731 (GRCm39)	D113V	possibly damaging	Het
Raver2	T	C	4: 100,993,349 (GRCm39)	S510P	possibly damaging	Het
Rgr	A	T	14: 36,766,641 (GRCm39)	C94*	probably null	Het
Rp1l1	T	A	14: 64,265,599 (GRCm39)	I395N	probably benign	Het
Sesn3	T	A	9: 14,227,520 (GRCm39)	H168Q	possibly damaging	Het
Sox30	C	A	11: 45,908,098 (GRCm39)	P755Q	probably damaging	Het
Stac3	T	C	10: 127,340,754 (GRCm39)	F173S	probably damaging	Het
Synj2	C	A	17: 6,077,599 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,297,244 (GRCm39)	I120L	probably benign	Het
Tas2r124	A	G	6: 132,732,019 (GRCm39)	I109M	probably damaging	Het
Tm4sf19	A	T	16: 32,226,781 (GRCm39)	H190L	probably damaging	Het
Tmem143	T	G	7: 45,556,532 (GRCm39)	V179G	probably damaging	Het
Ubr4	T	C	4: 139,195,339 (GRCm39)	F1187S	probably damaging	Het
Ubtfl1	A	G	9: 18,321,209 (GRCm39)	R246G	possibly damaging	Het
Zdhhc5	A	G	2: 84,532,733 (GRCm39)	F57S	probably damaging	Het
Zfp40	A	T	17: 23,394,232 (GRCm39)	M717K	probably benign	Het

Other mutations in Dgcr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
capitol	UTSW	16	17,662,944 (GRCm39)	nonsense	probably null
R0135:Dgcr2	UTSW	16	17,676,306 (GRCm39)	missense	probably damaging	0.99
R0218:Dgcr2	UTSW	16	17,667,650 (GRCm39)	missense	probably damaging	1.00
R0627:Dgcr2	UTSW	16	17,661,872 (GRCm39)	missense	probably damaging	1.00
R1769:Dgcr2	UTSW	16	17,675,115 (GRCm39)	splice site	probably benign
R1836:Dgcr2	UTSW	16	17,667,584 (GRCm39)	missense	probably damaging	1.00
R2152:Dgcr2	UTSW	16	17,709,351 (GRCm39)	splice site	probably null
R2259:Dgcr2	UTSW	16	17,662,841 (GRCm39)	splice site	probably null
R4815:Dgcr2	UTSW	16	17,676,483 (GRCm39)	intron	probably benign
R4829:Dgcr2	UTSW	16	17,660,617 (GRCm39)	missense	possibly damaging	0.90
R5372:Dgcr2	UTSW	16	17,690,508 (GRCm39)	missense	probably benign	0.00
R5931:Dgcr2	UTSW	16	17,675,173 (GRCm39)	missense	possibly damaging	0.71
R7008:Dgcr2	UTSW	16	17,662,865 (GRCm39)	missense	probably damaging	1.00
R7285:Dgcr2	UTSW	16	17,662,944 (GRCm39)	nonsense	probably null
R7915:Dgcr2	UTSW	16	17,677,266 (GRCm39)	critical splice donor site	probably null
R8099:Dgcr2	UTSW	16	17,667,633 (GRCm39)	missense	probably damaging	1.00
R8120:Dgcr2	UTSW	16	17,675,183 (GRCm39)	nonsense	probably null
R8307:Dgcr2	UTSW	16	17,676,242 (GRCm39)	missense	probably benign	0.00
R8308:Dgcr2	UTSW	16	17,676,242 (GRCm39)	missense	probably benign	0.00
R8837:Dgcr2	UTSW	16	17,667,630 (GRCm39)	missense	possibly damaging	0.69
R8851:Dgcr2	UTSW	16	17,690,507 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- CAAGTCCCCAGGTCATTGTTCTCAC -3'
(R):5'- TGCAGCAGCCTCTAACTTTTGGTAG -3'

Sequencing Primer
(F):5'- TGTCTTGAAAACACTGAAGCC -3'
(R):5'- CTCCAGCCCTGTGATTGGTG -3'

Posted On

2014-03-14