Mutagenetix > Incidental Mutation

Incidental Mutation 'R8307:Dgcr2'

641162

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

067717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17658219-17709592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17676242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 176 (G176D)

Ref Sequence

ENSEMBL: ENSMUSP00000012152 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000012152
AA Change: G176D

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

SMART Domains

Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166
AA Change: G176D

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

probably damaging
Transcript: ENSMUST00000066127
AA Change: G173D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166
AA Change: G173D

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

possibly damaging
Transcript: ENSMUST00000117082
AA Change: G175D

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166
AA Change: G175D

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

possibly damaging
Transcript: ENSMUST00000117945
AA Change: G173D

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166
AA Change: G173D

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

probably benign
Transcript: ENSMUST00000150068
AA Change: G176D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470
AA Change: G176D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	A	4: 148,025,837 (GRCm39)	T119K	probably benign	Het
Abca13	T	A	11: 9,227,922 (GRCm39)	L655*	probably null	Het
Aifm2	A	G	10: 61,562,171 (GRCm39)	Y69C	probably damaging	Het
Atp2c1	C	T	9: 105,320,030 (GRCm39)	V448I	probably benign	Het
Barx2	A	G	9: 31,770,307 (GRCm39)	S74P	probably damaging	Het
Bod1l	T	C	5: 41,978,498 (GRCm39)	K939E	probably damaging	Het
Cdh12	C	A	15: 21,358,949 (GRCm39)	F124L	probably benign	Het
Cdh12	T	A	15: 21,358,950 (GRCm39)	Y125N	probably damaging	Het
Cdx2	A	G	5: 147,243,477 (GRCm39)	Y106H	possibly damaging	Het
Chmp1a	C	T	8: 123,932,980 (GRCm39)	G158S	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cntnap1	A	T	11: 101,079,702 (GRCm39)	Y1277F	possibly damaging	Het
Csde1	A	G	3: 102,946,389 (GRCm39)		probably benign	Het
Dennd4c	A	C	4: 86,744,109 (GRCm39)	D1317A	probably benign	Het
Dock2	A	T	11: 34,260,362 (GRCm39)	M993K	possibly damaging	Het
Dpy19l1	G	A	9: 24,414,297 (GRCm39)	P44S	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Epg5	T	A	18: 78,065,894 (GRCm39)	F2078Y	probably damaging	Het
Fancl	A	G	11: 26,349,642 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,347,402 (GRCm39)	R41L	possibly damaging	Het
Gemin5	G	A	11: 58,042,420 (GRCm39)	T467M	probably damaging	Het
Hexb	T	C	13: 97,330,707 (GRCm39)	Q102R	probably benign	Het
Hmcn2	A	G	2: 31,286,127 (GRCm39)	D2093G	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Igkv1-131	A	G	6: 67,743,051 (GRCm39)	Y111H	probably damaging	Het
Il6st	G	T	13: 112,624,281 (GRCm39)	G177V	probably benign	Het
Kank4	G	A	4: 98,666,915 (GRCm39)	Q511*	probably null	Het
Krt90	A	G	15: 101,467,634 (GRCm39)	L248P	probably damaging	Het
Krtap5-2	A	G	7: 141,728,586 (GRCm39)	C187R	unknown	Het
Lonp1	C	A	17: 56,933,573 (GRCm39)	A101S	probably benign	Het
Nckap5l	A	G	15: 99,321,058 (GRCm39)	C1241R	probably damaging	Het
Or1j11	A	G	2: 36,312,333 (GRCm39)	T308A	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or6c203	T	C	10: 129,010,101 (GRCm39)	D263G	probably benign	Het
Pcdh15	T	A	10: 74,342,307 (GRCm39)	C1131*	probably null	Het
Pcdhgc3	A	G	18: 37,940,847 (GRCm39)	D416G	probably damaging	Het
Pikfyve	T	C	1: 65,284,894 (GRCm39)	M786T	possibly damaging	Het
Pink1	A	T	4: 138,045,273 (GRCm39)	M297K	probably benign	Het
Pln	T	C	10: 53,219,975 (GRCm39)	Y6H	unknown	Het
Ppp2r2c	A	G	5: 37,104,430 (GRCm39)	D270G	probably damaging	Het
Pramel58	T	G	5: 94,831,416 (GRCm39)	L141R	probably damaging	Het
Prcd	A	T	11: 116,550,199 (GRCm39)	T76S	possibly damaging	Het
Pxylp1	A	G	9: 96,721,137 (GRCm39)		probably null	Het
Rab11fip4	A	T	11: 79,581,600 (GRCm39)	N532Y	possibly damaging	Het
Ralgapa1	C	A	12: 55,788,308 (GRCm39)	V592L	probably damaging	Het
Robo2	T	C	16: 73,753,498 (GRCm39)	D793G	probably damaging	Het
Sec14l1	G	A	11: 117,034,242 (GRCm39)		probably null	Het
Srcap	T	A	7: 127,124,541 (GRCm39)	V237E	probably damaging	Het
Srl	A	G	16: 4,315,009 (GRCm39)	I211T	probably benign	Het
Tasor	G	T	14: 27,193,622 (GRCm39)	A941S	probably damaging	Het
Tet3	A	G	6: 83,356,909 (GRCm39)	V883A	probably damaging	Het
Trim46	A	G	3: 89,151,223 (GRCm39)	Y113H	probably benign	Het
Trim58	G	A	11: 58,537,909 (GRCm39)	A267T	probably benign	Het
Tsks	G	A	7: 44,607,086 (GRCm39)	G140S		Het
Vmn2r110	C	A	17: 20,803,319 (GRCm39)	V419L	probably benign	Het
Vmn2r66	A	G	7: 84,656,270 (GRCm39)	F249L	probably benign	Het
Vps8	A	C	16: 21,314,652 (GRCm39)	D584A	probably benign	Het
Zfp605	T	A	5: 110,276,063 (GRCm39)	C394S	probably damaging	Het
Zscan4e	A	G	7: 11,041,059 (GRCm39)	I271T	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
R1450:Dgcr2	UTSW	16	17,674,678 (GRCm39)	missense	possibly damaging	0.71
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
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'- TGCCCTTCTTATGCCCAGAG -3'
(R):5'- TGGGTGGCACCACTATGAAG -3'

Sequencing Primer
(F):5'- CCTTACGATGCAGGCTAGC -3'
(R):5'- TGGCACCACTATGAAGGCACAG -3'

Posted On

2020-07-28