Incidental Mutation 'R2197:Cdh8'
| ID |
238422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh8
|
| Ensembl Gene |
ENSMUSG00000036510 |
| Gene Name |
cadherin 8 |
| Synonyms |
cad8 |
| MMRRC Submission |
040199-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2197 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
99751103-100143103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99922897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 333
(Q333L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093249]
[ENSMUST00000128860]
[ENSMUST00000142129]
[ENSMUST00000145601]
[ENSMUST00000155527]
|
| AlphaFold |
P97291 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093249
AA Change: Q333L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090935
Gene: ENSMUSG00000036510
AA Change: Q333L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
645 |
712 |
1.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126895
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128860
AA Change: Q333L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117326
Gene: ENSMUSG00000036510
AA Change: Q333L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
647 |
792 |
7e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142129
AA Change: Q333L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114507
Gene: ENSMUSG00000036510
AA Change: Q333L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
645 |
702 |
5.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145601
AA Change: Q333L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122493
Gene: ENSMUSG00000036510
AA Change: Q333L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
502 |
1.27e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155527
AA Change: Q333L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123619
Gene: ENSMUSG00000036510
AA Change: Q333L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
CA
|
84 |
165 |
9.52e-17 |
SMART |
|
CA
|
189 |
274 |
7.14e-30 |
SMART |
|
CA
|
298 |
390 |
8.16e-16 |
SMART |
|
CA
|
413 |
494 |
6.14e-20 |
SMART |
|
CA
|
517 |
604 |
1.16e-11 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
645 |
745 |
1.8e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein exhibit reduced behavioral responses to cold, but not thermal stimuli. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal but display abnormal CNS synaptic transmission, raise their tails in response to stress, and show reduced sensitivity to cutaneous cold stimuli. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
T |
11: 102,660,750 (GRCm39) |
I94F |
possibly damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,509,741 (GRCm39) |
D875E |
probably damaging |
Het |
| Arf3 |
T |
C |
15: 98,639,285 (GRCm39) |
N60S |
probably benign |
Het |
| Atxn2 |
T |
G |
5: 121,944,280 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
A |
T |
7: 25,328,373 (GRCm39) |
I268F |
probably benign |
Het |
| Bmp1 |
T |
A |
14: 70,723,712 (GRCm39) |
D708V |
possibly damaging |
Het |
| C1s2 |
A |
G |
6: 124,609,069 (GRCm39) |
S163P |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,526,623 (GRCm39) |
I786T |
probably benign |
Het |
| Cacna2d2 |
T |
A |
9: 107,404,602 (GRCm39) |
L1138Q |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,029 (GRCm39) |
Y272F |
probably damaging |
Het |
| Cd300ld |
A |
T |
11: 114,875,058 (GRCm39) |
M192K |
possibly damaging |
Het |
| Cdc5l |
A |
T |
17: 45,718,745 (GRCm39) |
F624I |
probably benign |
Het |
| Ciapin1 |
T |
A |
8: 95,555,787 (GRCm39) |
K128* |
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,731,467 (GRCm39) |
E988D |
probably benign |
Het |
| Crip3 |
A |
G |
17: 46,740,338 (GRCm39) |
E46G |
probably damaging |
Het |
| D5Ertd579e |
A |
G |
5: 36,772,137 (GRCm39) |
S753P |
possibly damaging |
Het |
| Dock6 |
T |
A |
9: 21,744,177 (GRCm39) |
D126V |
probably damaging |
Het |
| Duxf4 |
T |
A |
10: 58,072,158 (GRCm39) |
I19F |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,506 (GRCm39) |
E153G |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,136,471 (GRCm39) |
M748L |
probably benign |
Het |
| Exoc8 |
A |
G |
8: 125,622,477 (GRCm39) |
L630P |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,507,668 (GRCm39) |
T454M |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,459,134 (GRCm39) |
D2472V |
probably damaging |
Het |
| Galnt4 |
G |
A |
10: 98,944,509 (GRCm39) |
G78E |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,362,956 (GRCm39) |
L172* |
probably null |
Het |
| Gjb5 |
A |
T |
4: 127,250,063 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,095,340 (GRCm39) |
D427G |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,316,369 (GRCm39) |
|
probably null |
Het |
| Kcnab1 |
T |
C |
3: 65,017,368 (GRCm39) |
I59T |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,607,950 (GRCm39) |
Y544H |
probably damaging |
Het |
| Kdm7a |
A |
G |
6: 39,123,870 (GRCm39) |
S765P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,059,936 (GRCm39) |
H675L |
probably benign |
Het |
| Lemd3 |
CCCTCCTCCTCCTCCTCCTCC |
CCCTCCTCCTCCTCCTCC |
10: 120,814,432 (GRCm39) |
|
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,600,865 (GRCm39) |
S654P |
possibly damaging |
Het |
| Lvrn |
G |
T |
18: 47,011,409 (GRCm39) |
M455I |
probably benign |
Het |
| Mfsd12 |
T |
A |
10: 81,193,568 (GRCm39) |
L46Q |
probably damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,673,427 (GRCm39) |
M783K |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,978,399 (GRCm39) |
T420S |
probably damaging |
Het |
| Mybphl |
T |
A |
3: 108,284,635 (GRCm39) |
I294N |
probably damaging |
Het |
| Or4c52 |
G |
A |
2: 89,845,768 (GRCm39) |
G165S |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,658 (GRCm39) |
T48A |
possibly damaging |
Het |
| Or52ab7 |
T |
A |
7: 102,977,831 (GRCm39) |
L46* |
probably null |
Het |
| Oxa1l |
A |
T |
14: 54,598,924 (GRCm39) |
Q70L |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,279,185 (GRCm39) |
I722F |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,084,924 (GRCm39) |
D460G |
probably damaging |
Het |
| Pth1r |
CGGG |
CGGGGGG |
9: 110,556,058 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,152 (GRCm39) |
S334P |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,439,816 (GRCm39) |
|
probably null |
Het |
| Scnn1g |
G |
C |
7: 121,366,519 (GRCm39) |
W572S |
probably damaging |
Het |
| Skint5 |
G |
A |
4: 113,798,046 (GRCm39) |
S179L |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,817,949 (GRCm39) |
G175V |
probably damaging |
Het |
| Spaca6 |
G |
A |
17: 18,056,416 (GRCm39) |
|
probably null |
Het |
| Tbc1d30 |
C |
T |
10: 121,140,312 (GRCm39) |
R207H |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,087,435 (GRCm39) |
I829T |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,414,780 (GRCm39) |
S161P |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,719,353 (GRCm39) |
V189A |
probably benign |
Het |
| Tmem248 |
A |
G |
5: 130,260,597 (GRCm39) |
D54G |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,417,487 (GRCm39) |
S121T |
probably damaging |
Het |
| Tyk2 |
C |
T |
9: 21,026,503 (GRCm39) |
V698M |
probably damaging |
Het |
| Usp17la |
A |
G |
7: 104,509,919 (GRCm39) |
R175G |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,610,140 (GRCm39) |
N464S |
probably benign |
Het |
| Vmn2r57 |
T |
G |
7: 41,078,249 (GRCm39) |
|
probably null |
Het |
| Vmn2r78 |
A |
G |
7: 86,570,535 (GRCm39) |
Y351C |
probably damaging |
Het |
|
| Other mutations in Cdh8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Cdh8
|
APN |
8 |
100,006,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01377:Cdh8
|
APN |
8 |
99,760,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01845:Cdh8
|
APN |
8 |
99,825,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL02166:Cdh8
|
APN |
8 |
99,917,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02392:Cdh8
|
APN |
8 |
99,757,387 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0007:Cdh8
|
UTSW |
8 |
99,957,088 (GRCm39) |
nonsense |
probably null |
|
|
R0179:Cdh8
|
UTSW |
8 |
99,838,344 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0196:Cdh8
|
UTSW |
8 |
99,917,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0220:Cdh8
|
UTSW |
8 |
99,838,311 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0271:Cdh8
|
UTSW |
8 |
99,838,347 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0592:Cdh8
|
UTSW |
8 |
100,006,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Cdh8
|
UTSW |
8 |
100,127,546 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1404:Cdh8
|
UTSW |
8 |
100,006,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Cdh8
|
UTSW |
8 |
100,006,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Cdh8
|
UTSW |
8 |
99,917,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Cdh8
|
UTSW |
8 |
99,757,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Cdh8
|
UTSW |
8 |
99,757,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Cdh8
|
UTSW |
8 |
100,006,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1781:Cdh8
|
UTSW |
8 |
99,917,094 (GRCm39) |
splice site |
probably null |
|
|
R1862:Cdh8
|
UTSW |
8 |
99,917,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Cdh8
|
UTSW |
8 |
100,006,189 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1912:Cdh8
|
UTSW |
8 |
99,825,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Cdh8
|
UTSW |
8 |
99,760,103 (GRCm39) |
splice site |
probably null |
|
|
R2142:Cdh8
|
UTSW |
8 |
99,838,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Cdh8
|
UTSW |
8 |
100,127,495 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3085:Cdh8
|
UTSW |
8 |
99,923,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3436:Cdh8
|
UTSW |
8 |
100,127,350 (GRCm39) |
splice site |
probably benign |
|
|
R3898:Cdh8
|
UTSW |
8 |
99,898,005 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4470:Cdh8
|
UTSW |
8 |
100,143,321 (GRCm39) |
unclassified |
probably benign |
|
|
R4615:Cdh8
|
UTSW |
8 |
100,006,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Cdh8
|
UTSW |
8 |
99,751,491 (GRCm39) |
missense |
probably benign |
|
|
R4666:Cdh8
|
UTSW |
8 |
99,751,534 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4798:Cdh8
|
UTSW |
8 |
99,751,558 (GRCm39) |
nonsense |
probably null |
|
|
R4871:Cdh8
|
UTSW |
8 |
99,757,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:Cdh8
|
UTSW |
8 |
100,006,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5406:Cdh8
|
UTSW |
8 |
99,923,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Cdh8
|
UTSW |
8 |
99,757,498 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5686:Cdh8
|
UTSW |
8 |
99,759,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6311:Cdh8
|
UTSW |
8 |
100,127,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6786:Cdh8
|
UTSW |
8 |
99,950,579 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6855:Cdh8
|
UTSW |
8 |
99,916,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6950:Cdh8
|
UTSW |
8 |
99,757,395 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7112:Cdh8
|
UTSW |
8 |
99,922,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Cdh8
|
UTSW |
8 |
99,825,557 (GRCm39) |
missense |
probably benign |
|
|
R7384:Cdh8
|
UTSW |
8 |
99,957,138 (GRCm39) |
missense |
probably benign |
|
|
R7400:Cdh8
|
UTSW |
8 |
100,006,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Cdh8
|
UTSW |
8 |
99,825,517 (GRCm39) |
nonsense |
probably null |
|
|
R7763:Cdh8
|
UTSW |
8 |
100,006,306 (GRCm39) |
nonsense |
probably null |
|
|
R8130:Cdh8
|
UTSW |
8 |
99,757,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8215:Cdh8
|
UTSW |
8 |
99,757,498 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8314:Cdh8
|
UTSW |
8 |
99,898,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Cdh8
|
UTSW |
8 |
99,757,672 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9673:Cdh8
|
UTSW |
8 |
99,757,367 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9756:Cdh8
|
UTSW |
8 |
99,759,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Cdh8
|
UTSW |
8 |
100,006,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cdh8
|
UTSW |
8 |
100,006,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cdh8
|
UTSW |
8 |
99,916,837 (GRCm39) |
missense |
probably null |
0.89 |
|
Z1176:Cdh8
|
UTSW |
8 |
99,897,955 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCCTAAGAGAATGGCAATTC -3'
(R):5'- GGTCATATCTCTACAGACATCCAG -3'
Sequencing Primer
(F):5'- TGGCAATTCTGAATAGTTCTGTTAAG -3'
(R):5'- TCAGTGTTCTTCATCTTTTCATAGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation