Incidental Mutation 'R7943:Crybg2'
| ID |
649146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
045989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R7943 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 133800295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 176
(V176G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000137053]
[ENSMUST00000219402]
[ENSMUST00000227683]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121391
AA Change: V176G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: V176G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
171 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
625 |
N/A |
INTRINSIC |
|
coiled coil region
|
683 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
XTALbg
|
842 |
921 |
2.56e-7 |
SMART |
|
XTALbg
|
929 |
1010 |
9.33e-10 |
SMART |
|
XTALbg
|
1024 |
1110 |
5.06e-29 |
SMART |
|
XTALbg
|
1118 |
1199 |
1.4e-22 |
SMART |
|
XTALbg
|
1212 |
1291 |
2.22e-16 |
SMART |
|
XTALbg
|
1299 |
1379 |
1.69e-16 |
SMART |
|
RICIN
|
1383 |
1514 |
7.89e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137053
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219402
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227683
AA Change: V485G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,736,222 (GRCm39) |
T205I |
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,530,021 (GRCm39) |
H225R |
probably damaging |
Het |
| Anks1 |
T |
A |
17: 28,204,178 (GRCm39) |
Y209N |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,667,525 (GRCm39) |
I377L |
probably benign |
Het |
| Arl9 |
A |
T |
5: 77,158,395 (GRCm39) |
D159V |
probably damaging |
Het |
| Arsa |
A |
C |
15: 89,358,292 (GRCm39) |
L339R |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,091,354 (GRCm39) |
L380P |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,628,196 (GRCm39) |
C97R |
unknown |
Het |
| Ccdc74a |
A |
G |
16: 17,468,416 (GRCm39) |
H346R |
probably benign |
Het |
| Ccnl1 |
T |
C |
3: 65,864,326 (GRCm39) |
I152V |
probably benign |
Het |
| Cd4 |
C |
T |
6: 124,847,207 (GRCm39) |
|
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,479,491 (GRCm39) |
I203L |
probably benign |
Het |
| Ckap2 |
C |
A |
8: 22,665,090 (GRCm39) |
R458L |
probably damaging |
Het |
| Cldn10 |
T |
C |
14: 119,099,271 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
C |
T |
4: 63,236,520 (GRCm39) |
R1377C |
unknown |
Het |
| Cry1 |
A |
T |
10: 84,978,984 (GRCm39) |
M514K |
probably benign |
Het |
| Cyp2j5 |
C |
T |
4: 96,547,849 (GRCm39) |
G131D |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,817,535 (GRCm39) |
Y720C |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,626,006 (GRCm39) |
V44D |
probably damaging |
Het |
| Eif1ad8 |
C |
T |
12: 87,563,773 (GRCm39) |
A36V |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,636,410 (GRCm39) |
|
probably null |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam184a |
C |
T |
10: 53,523,137 (GRCm39) |
A956T |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,741,487 (GRCm39) |
R202* |
probably null |
Het |
| Fnip1 |
A |
G |
11: 54,393,214 (GRCm39) |
E550G |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,438,132 (GRCm39) |
L675P |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,989,554 (GRCm39) |
Y2002H |
probably benign |
Het |
| Hp |
A |
G |
8: 110,302,187 (GRCm39) |
Y254H |
probably damaging |
Het |
| Ighg1 |
G |
T |
12: 113,293,957 (GRCm39) |
T62N |
|
Het |
| Jcad |
A |
G |
18: 4,672,700 (GRCm39) |
E154G |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,760,437 (GRCm39) |
S471P |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,169,352 (GRCm39) |
V1968A |
probably damaging |
Het |
| Mknk2 |
T |
A |
10: 80,511,701 (GRCm39) |
Q3L |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,844,029 (GRCm39) |
T65I |
probably benign |
Het |
| Or10p21 |
T |
A |
10: 128,847,934 (GRCm39) |
M260K |
possibly damaging |
Het |
| Or51f1e |
G |
A |
7: 102,747,153 (GRCm39) |
M68I |
probably damaging |
Het |
| Or5m11 |
A |
G |
2: 85,782,342 (GRCm39) |
T312A |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,600 (GRCm39) |
M118K |
probably damaging |
Het |
| Pcdhgb4 |
C |
T |
18: 37,855,063 (GRCm39) |
T486I |
probably benign |
Het |
| Perm1 |
T |
A |
4: 156,302,991 (GRCm39) |
F512I |
probably damaging |
Het |
| Pgap3 |
A |
T |
11: 98,281,227 (GRCm39) |
L262Q |
probably damaging |
Het |
| Pklr |
A |
C |
3: 89,048,814 (GRCm39) |
Y126S |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Ppm1k |
T |
C |
6: 57,501,813 (GRCm39) |
T117A |
probably benign |
Het |
| Prkd2 |
G |
A |
7: 16,584,244 (GRCm39) |
E366K |
probably benign |
Het |
| Psd |
C |
A |
19: 46,313,169 (GRCm39) |
C67F |
possibly damaging |
Het |
| Ptpra |
T |
A |
2: 30,322,056 (GRCm39) |
F100L |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,112,357 (GRCm39) |
E466G |
probably damaging |
Het |
| Sec16b |
A |
T |
1: 157,382,327 (GRCm39) |
M588L |
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,949 (GRCm39) |
H111L |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,116,537 (GRCm39) |
I76T |
possibly damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,798,812 (GRCm39) |
L369Q |
possibly damaging |
Het |
| Spef2 |
A |
G |
15: 9,601,171 (GRCm39) |
M1697T |
unknown |
Het |
| St7 |
G |
A |
6: 17,844,911 (GRCm39) |
C133Y |
probably damaging |
Het |
| Tdpoz6 |
A |
T |
3: 93,600,070 (GRCm39) |
C100S |
probably benign |
Het |
| Tex19.1 |
T |
A |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,449,039 (GRCm39) |
I726N |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,098 (GRCm39) |
|
probably null |
Het |
| Trim43a |
C |
T |
9: 88,464,238 (GRCm39) |
P50S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,958,105 (GRCm39) |
V935E |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,381,620 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ulbp1 |
T |
C |
10: 7,407,053 (GRCm39) |
T82A |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,931,089 (GRCm39) |
H288Y |
probably damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,079 (GRCm39) |
K693E |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,932,566 (GRCm39) |
T158A |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,296,622 (GRCm39) |
K540R |
possibly damaging |
Het |
| Zfp143 |
T |
A |
7: 109,671,681 (GRCm39) |
|
probably null |
Het |
| Zfp709 |
G |
T |
8: 72,643,933 (GRCm39) |
C454F |
probably damaging |
Het |
|
| Other mutations in Crybg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Crybg2
|
APN |
4 |
133,802,755 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01147:Crybg2
|
APN |
4 |
133,816,575 (GRCm39) |
splice site |
probably null |
|
|
IGL02003:Crybg2
|
APN |
4 |
133,799,767 (GRCm39) |
missense |
probably benign |
|
|
IGL02468:Crybg2
|
APN |
4 |
133,809,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Crybg2
|
UTSW |
4 |
133,808,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0414:Crybg2
|
UTSW |
4 |
133,799,947 (GRCm39) |
small deletion |
probably benign |
|
|
R0579:Crybg2
|
UTSW |
4 |
133,800,049 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0634:Crybg2
|
UTSW |
4 |
133,802,615 (GRCm39) |
splice site |
probably benign |
|
|
R0638:Crybg2
|
UTSW |
4 |
133,801,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0686:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
|
R1583:Crybg2
|
UTSW |
4 |
133,808,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Crybg2
|
UTSW |
4 |
133,802,214 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1651:Crybg2
|
UTSW |
4 |
133,802,136 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1752:Crybg2
|
UTSW |
4 |
133,800,961 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1883:Crybg2
|
UTSW |
4 |
133,801,594 (GRCm39) |
nonsense |
probably null |
|
|
R1903:Crybg2
|
UTSW |
4 |
133,806,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Crybg2
|
UTSW |
4 |
133,814,844 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2081:Crybg2
|
UTSW |
4 |
133,816,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2229:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
|
R2321:Crybg2
|
UTSW |
4 |
133,801,822 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2392:Crybg2
|
UTSW |
4 |
133,799,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2939:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2940:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3028:Crybg2
|
UTSW |
4 |
133,801,095 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4458:Crybg2
|
UTSW |
4 |
133,802,205 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4487:Crybg2
|
UTSW |
4 |
133,801,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4680:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
|
R4681:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
|
R4682:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
|
R4766:Crybg2
|
UTSW |
4 |
133,816,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Crybg2
|
UTSW |
4 |
133,801,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5291:Crybg2
|
UTSW |
4 |
133,800,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5453:Crybg2
|
UTSW |
4 |
133,806,147 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5711:Crybg2
|
UTSW |
4 |
133,809,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5834:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5969:Crybg2
|
UTSW |
4 |
133,803,003 (GRCm39) |
splice site |
probably null |
|
|
R5976:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
|
R6022:Crybg2
|
UTSW |
4 |
133,801,584 (GRCm39) |
nonsense |
probably null |
|
|
R6046:Crybg2
|
UTSW |
4 |
133,819,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Crybg2
|
UTSW |
4 |
133,803,101 (GRCm39) |
splice site |
probably null |
|
|
R6196:Crybg2
|
UTSW |
4 |
133,808,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6246:Crybg2
|
UTSW |
4 |
133,816,657 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6303:Crybg2
|
UTSW |
4 |
133,814,898 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6320:Crybg2
|
UTSW |
4 |
133,808,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6737:Crybg2
|
UTSW |
4 |
133,800,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6744:Crybg2
|
UTSW |
4 |
133,816,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6847:Crybg2
|
UTSW |
4 |
133,792,857 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6891:Crybg2
|
UTSW |
4 |
133,809,148 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7043:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7133:Crybg2
|
UTSW |
4 |
133,792,754 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7166:Crybg2
|
UTSW |
4 |
133,788,193 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7412:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7711:Crybg2
|
UTSW |
4 |
133,792,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7745:Crybg2
|
UTSW |
4 |
133,816,156 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7782:Crybg2
|
UTSW |
4 |
133,801,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7871:Crybg2
|
UTSW |
4 |
133,814,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Crybg2
|
UTSW |
4 |
133,818,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Crybg2
|
UTSW |
4 |
133,800,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8292:Crybg2
|
UTSW |
4 |
133,802,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8510:Crybg2
|
UTSW |
4 |
133,800,670 (GRCm39) |
missense |
probably benign |
|
|
R8535:Crybg2
|
UTSW |
4 |
133,808,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8695:Crybg2
|
UTSW |
4 |
133,792,766 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8789:Crybg2
|
UTSW |
4 |
133,801,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8870:Crybg2
|
UTSW |
4 |
133,818,525 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9052:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9071:Crybg2
|
UTSW |
4 |
133,818,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Crybg2
|
UTSW |
4 |
133,799,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9154:Crybg2
|
UTSW |
4 |
133,792,620 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9440:Crybg2
|
UTSW |
4 |
133,801,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9540:Crybg2
|
UTSW |
4 |
133,816,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9606:Crybg2
|
UTSW |
4 |
133,801,383 (GRCm39) |
nonsense |
probably null |
|
|
R9641:Crybg2
|
UTSW |
4 |
133,816,620 (GRCm39) |
nonsense |
probably null |
|
|
R9719:Crybg2
|
UTSW |
4 |
133,793,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9734:Crybg2
|
UTSW |
4 |
133,801,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Crybg2
|
UTSW |
4 |
133,816,587 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Crybg2
|
UTSW |
4 |
133,809,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGACCCATCTTTTCCAAG -3'
(R):5'- AGGTTGCTCAGCACTTCCAG -3'
Sequencing Primer
(F):5'- TTTTCCAAGAAATATATTCCACCCC -3'
(R):5'- GGGGCTCACCACTACTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation