Incidental Mutation 'R8308:Dgcr2'
| ID |
641215 |
| 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 |
067793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| 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: 98.9%
|
| Validation Efficiency |
|
| 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 |
|---|
| Aadacl2fm2 |
A |
G |
3: 59,659,570 (GRCm39) |
D341G |
probably damaging |
Het |
| Abca17 |
T |
C |
17: 24,486,657 (GRCm39) |
T1457A |
probably damaging |
Het |
| Acot8 |
A |
T |
2: 164,646,663 (GRCm39) |
S25R |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,210,212 (GRCm39) |
V850A |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,214,487 (GRCm39) |
E402D |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,943,815 (GRCm39) |
K2689E |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,954,098 (GRCm39) |
D808Y |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,809 (GRCm39) |
T223A |
probably benign |
Het |
| Crem |
G |
T |
18: 3,295,397 (GRCm39) |
T57K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,656,516 (GRCm39) |
I393F |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,790,371 (GRCm39) |
V1451L |
probably benign |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,664,075 (GRCm39) |
V224A |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,190,586 (GRCm39) |
S152C |
unknown |
Het |
| Gcsam |
A |
T |
16: 45,430,902 (GRCm39) |
N3I |
probably damaging |
Het |
| Gm10188 |
C |
T |
1: 132,157,310 (GRCm39) |
V19I |
unknown |
Het |
| Gpr27 |
T |
C |
6: 99,670,217 (GRCm39) |
L193P |
probably damaging |
Het |
| Grin2b |
A |
T |
6: 135,900,074 (GRCm39) |
V269E |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,651 (GRCm39) |
I1275V |
possibly damaging |
Het |
| Krt27 |
T |
C |
11: 99,239,862 (GRCm39) |
E234G |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Matk |
T |
G |
10: 81,094,121 (GRCm39) |
S18A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,395,886 (GRCm39) |
T4A |
probably benign |
Het |
| Mettl23 |
G |
A |
11: 116,739,185 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
A |
T |
9: 49,479,817 (GRCm39) |
W54R |
probably damaging |
Het |
| Olfm5 |
A |
G |
7: 103,803,606 (GRCm39) |
Y286H |
probably damaging |
Het |
| Or10d5j |
T |
A |
9: 39,868,265 (GRCm39) |
M1L |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or4q3 |
T |
C |
14: 50,582,922 (GRCm39) |
I326V |
probably benign |
Het |
| Or5ac15 |
C |
T |
16: 58,939,899 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pmch |
A |
G |
10: 87,927,614 (GRCm39) |
Y105C |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,819,676 (GRCm39) |
T57A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,838 (GRCm39) |
E877G |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,769,566 (GRCm39) |
V433A |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Scara5 |
C |
T |
14: 65,927,234 (GRCm39) |
R44W |
probably damaging |
Het |
| Scg2 |
T |
G |
1: 79,414,576 (GRCm39) |
K49T |
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,180 (GRCm39) |
I424T |
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,693,735 (GRCm39) |
S479T |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,929,456 (GRCm39) |
D1139G |
probably damaging |
Het |
| Srcap |
A |
G |
7: 127,152,353 (GRCm39) |
I2206V |
possibly damaging |
Het |
| Tpk1 |
T |
C |
6: 43,642,711 (GRCm39) |
E9G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,642,645 (GRCm39) |
V13297I |
possibly damaging |
Het |
| Uchl3 |
T |
C |
14: 101,932,655 (GRCm39) |
|
probably null |
Het |
| Usp12 |
T |
C |
5: 146,688,751 (GRCm39) |
D201G |
probably damaging |
Het |
| Vmn1r193 |
C |
T |
13: 22,403,146 (GRCm39) |
R282H |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,040 (GRCm39) |
D461G |
possibly damaging |
Het |
| Zfp131 |
A |
G |
13: 120,244,440 (GRCm39) |
M80T |
possibly damaging |
Het |
| Zfp457 |
A |
G |
13: 67,441,663 (GRCm39) |
L304P |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,663,566 (GRCm39) |
E682G |
probably damaging |
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 |
|
|
R8307: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'- ATGCTTCCTAGGGAAATGCC -3'
Sequencing Primer
(F):5'- CCTTACGATGCAGGCTAGC -3'
(R):5'- GAGAACTACTGGGATGCT -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation