Incidental Mutation 'R0022:Cdhr3'
| ID |
15215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr3
|
| Ensembl Gene |
ENSMUSG00000035860 |
| Gene Name |
cadherin-related family member 3 |
| Synonyms |
1110049B09Rik |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33132263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 120
(T120I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
| AlphaFold |
Q8BL00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095774
AA Change: T120I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093449
Gene: ENSMUSG00000035860
AA Change: T120I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
CA
|
36 |
131 |
5.54e-2 |
SMART |
|
CA
|
156 |
234 |
3.73e-10 |
SMART |
|
CA
|
258 |
343 |
5.47e-17 |
SMART |
|
CA
|
369 |
459 |
9.87e-1 |
SMART |
|
CA
|
483 |
564 |
1.17e-16 |
SMART |
|
CA
|
590 |
683 |
1.1e0 |
SMART |
|
transmembrane domain
|
708 |
730 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1640 |
| Coding Region Coverage |
- 1x: 82.0%
- 3x: 74.9%
- 10x: 56.1%
- 20x: 37.0%
|
| Validation Efficiency |
97% (90/93) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cd244a |
A |
G |
1: 171,401,330 (GRCm39) |
D48G |
probably benign |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,470,312 (GRCm39) |
S433T |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,661,178 (GRCm39) |
V113E |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
G |
14: 56,404,382 (GRCm39) |
S152P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,625 (GRCm39) |
A108S |
probably benign |
Het |
| Tro |
C |
G |
X: 149,430,508 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,791,654 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cdhr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Cdhr3
|
APN |
12 |
33,102,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01508:Cdhr3
|
APN |
12 |
33,103,427 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02396:Cdhr3
|
APN |
12 |
33,095,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02414:Cdhr3
|
APN |
12 |
33,092,503 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02450:Cdhr3
|
APN |
12 |
33,132,224 (GRCm39) |
missense |
probably benign |
|
|
IGL02453:Cdhr3
|
APN |
12 |
33,092,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02567:Cdhr3
|
APN |
12 |
33,088,900 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03342:Cdhr3
|
APN |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0022:Cdhr3
|
UTSW |
12 |
33,132,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Cdhr3
|
UTSW |
12 |
33,142,751 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0140:Cdhr3
|
UTSW |
12 |
33,130,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0157:Cdhr3
|
UTSW |
12 |
33,111,649 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0762:Cdhr3
|
UTSW |
12 |
33,110,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1421:Cdhr3
|
UTSW |
12 |
33,110,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Cdhr3
|
UTSW |
12 |
33,092,370 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1691:Cdhr3
|
UTSW |
12 |
33,132,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1822:Cdhr3
|
UTSW |
12 |
33,095,204 (GRCm39) |
missense |
probably null |
1.00 |
|
R1855:Cdhr3
|
UTSW |
12 |
33,110,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Cdhr3
|
UTSW |
12 |
33,095,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2496:Cdhr3
|
UTSW |
12 |
33,099,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2507:Cdhr3
|
UTSW |
12 |
33,088,914 (GRCm39) |
missense |
probably benign |
|
|
R3155:Cdhr3
|
UTSW |
12 |
33,099,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3906:Cdhr3
|
UTSW |
12 |
33,103,427 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4005:Cdhr3
|
UTSW |
12 |
33,130,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4277:Cdhr3
|
UTSW |
12 |
33,110,232 (GRCm39) |
missense |
probably null |
0.16 |
|
R4573:Cdhr3
|
UTSW |
12 |
33,118,152 (GRCm39) |
splice site |
probably null |
|
|
R4752:Cdhr3
|
UTSW |
12 |
33,136,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5364:Cdhr3
|
UTSW |
12 |
33,101,007 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5562:Cdhr3
|
UTSW |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5564:Cdhr3
|
UTSW |
12 |
33,098,985 (GRCm39) |
nonsense |
probably null |
|
|
R5768:Cdhr3
|
UTSW |
12 |
33,096,685 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6255:Cdhr3
|
UTSW |
12 |
33,103,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Cdhr3
|
UTSW |
12 |
33,085,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Cdhr3
|
UTSW |
12 |
33,092,379 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7155:Cdhr3
|
UTSW |
12 |
33,111,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Cdhr3
|
UTSW |
12 |
33,110,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Cdhr3
|
UTSW |
12 |
33,103,519 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7788:Cdhr3
|
UTSW |
12 |
33,110,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Cdhr3
|
UTSW |
12 |
33,098,931 (GRCm39) |
splice site |
probably null |
|
|
R9226:Cdhr3
|
UTSW |
12 |
33,132,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9592:Cdhr3
|
UTSW |
12 |
33,136,007 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
RF023:Cdhr3
|
UTSW |
12 |
33,110,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Cdhr3
|
UTSW |
12 |
33,117,235 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0028:Cdhr3
|
UTSW |
12 |
33,092,455 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cdhr3
|
UTSW |
12 |
33,130,323 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Cdhr3
|
UTSW |
12 |
33,110,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-12 |
Incidental Mutation