Incidental Mutation 'R0218:Dgcr2'
ID |
33687 |
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 |
038467-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0218 (G1)
|
Quality Score |
163 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
17658219-17709592 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17667650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 270
(C270R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000012152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012152]
[ENSMUST00000066127]
[ENSMUST00000117082]
[ENSMUST00000117945]
[ENSMUST00000150068]
[ENSMUST00000155943]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000012152
AA Change: C270R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000012152 Gene: ENSMUSG00000003166 AA Change: C270R
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 benign
Transcript: ENSMUST00000066127
|
SMART Domains |
Protein: ENSMUSP00000064603 Gene: ENSMUSG00000003166
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 damaging
Transcript: ENSMUST00000117082
AA Change: C269R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113506 Gene: ENSMUSG00000003166 AA Change: C269R
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 damaging
Transcript: ENSMUST00000117945
AA Change: C267R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112783 Gene: ENSMUSG00000003166 AA Change: C267R
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 damaging
Transcript: ENSMUST00000150068
AA Change: C270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115071 Gene: ENSMUSG00000092470 AA Change: C270R
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 damaging
Transcript: ENSMUST00000155943
AA Change: C47R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231306
|
Meta Mutation Damage Score |
0.9555 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
98% (53/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
G |
8: 44,079,477 (GRCm39) |
Q249P |
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
Cd200r1 |
T |
A |
16: 44,609,106 (GRCm39) |
|
probably benign |
Het |
Cdkl1 |
A |
T |
12: 69,836,809 (GRCm39) |
D40E |
probably benign |
Het |
Cdx1 |
A |
G |
18: 61,153,436 (GRCm39) |
|
probably benign |
Het |
Cenpp |
T |
A |
13: 49,801,108 (GRCm39) |
K103N |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,093,862 (GRCm39) |
Y839H |
possibly damaging |
Het |
Chac1 |
T |
A |
2: 119,183,941 (GRCm39) |
L181* |
probably null |
Het |
Ciapin1 |
G |
T |
8: 95,554,938 (GRCm39) |
Q173K |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,690 (GRCm39) |
N182Y |
probably benign |
Het |
Dlc1 |
A |
G |
8: 37,317,383 (GRCm39) |
S431P |
probably benign |
Het |
Efcab12 |
T |
C |
6: 115,791,611 (GRCm39) |
|
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,181,992 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,652,767 (GRCm39) |
V730D |
possibly damaging |
Het |
Fam174b |
A |
G |
7: 73,390,512 (GRCm39) |
T88A |
probably benign |
Het |
Fancl |
A |
G |
11: 26,421,337 (GRCm39) |
K364E |
probably benign |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Galc |
A |
G |
12: 98,188,906 (GRCm39) |
Y402H |
probably damaging |
Het |
Gga2 |
T |
C |
7: 121,598,123 (GRCm39) |
N324D |
possibly damaging |
Het |
Hc |
G |
T |
2: 34,918,086 (GRCm39) |
F732L |
probably damaging |
Het |
Heca |
T |
C |
10: 17,791,463 (GRCm39) |
M198V |
probably benign |
Het |
Herc6 |
C |
A |
6: 57,596,586 (GRCm39) |
H509N |
probably benign |
Het |
Irf2bpl |
A |
T |
12: 86,929,398 (GRCm39) |
M425K |
probably benign |
Het |
Mael |
C |
T |
1: 166,066,159 (GRCm39) |
G26D |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,135,906 (GRCm39) |
T2241A |
probably benign |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,701,894 (GRCm39) |
S505P |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,992,783 (GRCm39) |
|
probably benign |
Het |
Mex3b |
A |
T |
7: 82,518,312 (GRCm39) |
E209V |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,154 (GRCm39) |
E279G |
possibly damaging |
Het |
Ms4a20 |
A |
T |
19: 11,093,801 (GRCm39) |
Y10* |
probably null |
Het |
Nfe2l1 |
A |
T |
11: 96,718,439 (GRCm39) |
L32Q |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,195,818 (GRCm39) |
V285I |
probably benign |
Het |
Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,342 (GRCm39) |
N204S |
probably benign |
Het |
Osr1 |
A |
G |
12: 9,629,639 (GRCm39) |
T171A |
probably benign |
Het |
Ppp3cb |
A |
T |
14: 20,574,044 (GRCm39) |
C265S |
probably damaging |
Het |
Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Simc1 |
T |
C |
13: 54,674,417 (GRCm39) |
Y922H |
probably damaging |
Het |
Slc25a39 |
A |
G |
11: 102,297,056 (GRCm39) |
F56L |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,976,948 (GRCm39) |
L211P |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,040,400 (GRCm39) |
S805G |
probably benign |
Het |
Sra1 |
T |
C |
18: 36,809,662 (GRCm39) |
|
probably benign |
Het |
Tas2r104 |
T |
G |
6: 131,662,055 (GRCm39) |
D218A |
probably damaging |
Het |
Unc45b |
A |
G |
11: 82,802,686 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,075,040 (GRCm39) |
|
probably null |
Het |
Washc2 |
T |
A |
6: 116,225,007 (GRCm39) |
L785* |
probably null |
Het |
Zfp30 |
A |
G |
7: 29,493,063 (GRCm39) |
E439G |
probably damaging |
Het |
Zfp518a |
A |
G |
19: 40,901,072 (GRCm39) |
T334A |
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 |
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 |
|
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'- TGCTGTGTCAGGAACAACAAGCTC -3'
(R):5'- GGACCTTTACCTTGAAACCTGCCG -3'
Sequencing Primer
(F):5'- GGTCCAGACACATGAATTTGC -3'
(R):5'- CCGTTCCTATTCAGAGGCAGTG -3'
|
Posted On |
2013-05-09 |