Incidental Mutation 'R4330:Cdh10'
| ID |
324576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh10
|
| Ensembl Gene |
ENSMUSG00000022321 |
| Gene Name |
cadherin 10 |
| Synonyms |
C030011H18Rik, A830016G23Rik, C030003B10Rik, T2-cadherin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4330 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
18819033-19014322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19000045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 497
(V497I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040562]
[ENSMUST00000166873]
[ENSMUST00000176146]
|
| AlphaFold |
P70408 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040562
AA Change: V497I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042199
Gene: ENSMUSG00000022321
AA Change: V497I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
77 |
158 |
2.8e-14 |
SMART |
|
CA
|
182 |
267 |
1.03e-30 |
SMART |
|
CA
|
291 |
383 |
6.04e-19 |
SMART |
|
CA
|
406 |
487 |
6.23e-21 |
SMART |
|
CA
|
510 |
594 |
3.56e-7 |
SMART |
|
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
635 |
782 |
9.2e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166873
AA Change: V497I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128782
Gene: ENSMUSG00000022321
AA Change: V497I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
77 |
158 |
2.8e-14 |
SMART |
|
CA
|
182 |
267 |
1.03e-30 |
SMART |
|
CA
|
291 |
383 |
6.04e-19 |
SMART |
|
CA
|
406 |
487 |
6.23e-21 |
SMART |
|
CA
|
510 |
594 |
3.56e-7 |
SMART |
|
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
637 |
783 |
1.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176146
|
| SMART Domains |
Protein: ENSMUSP00000135546
Gene: ENSMUSG00000022321
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
77 |
158 |
2.8e-14 |
SMART |
|
CA
|
182 |
267 |
1.03e-30 |
SMART |
|
CA
|
291 |
383 |
6.04e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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. This gene is expressed in the blood-brain barrier and retinal endothelia suggesting a role in the development and maintenance of brain barrier. Alternative splicing results in multiple transcript variants. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,287 (GRCm39) |
K312N |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,078,565 (GRCm39) |
V229A |
probably benign |
Het |
| Cnr2 |
T |
A |
4: 135,644,237 (GRCm39) |
I105N |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,637,966 (GRCm39) |
T701A |
probably damaging |
Het |
| Eri1 |
G |
A |
8: 35,936,383 (GRCm39) |
R313* |
probably null |
Het |
| Hrh3 |
T |
C |
2: 179,741,665 (GRCm39) |
|
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,708,726 (GRCm39) |
V87D |
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Mfsd4a |
A |
C |
1: 131,981,291 (GRCm39) |
M320R |
possibly damaging |
Het |
| Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Rabl2 |
T |
C |
15: 89,471,137 (GRCm39) |
D66G |
probably benign |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,782 (GRCm39) |
K413R |
probably benign |
Het |
| Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
| Stil |
A |
G |
4: 114,862,176 (GRCm39) |
R40G |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,399,162 (GRCm39) |
V86A |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,278,204 (GRCm39) |
L711Q |
probably null |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,386 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
C |
T |
9: 72,203,261 (GRCm39) |
T3I |
possibly damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,361 (GRCm39) |
F342I |
probably damaging |
Het |
|
| Other mutations in Cdh10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Cdh10
|
APN |
15 |
19,013,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00540:Cdh10
|
APN |
15 |
18,964,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00769:Cdh10
|
APN |
15 |
18,985,185 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL00837:Cdh10
|
APN |
15 |
19,013,490 (GRCm39) |
missense |
probably benign |
|
|
IGL01307:Cdh10
|
APN |
15 |
18,899,886 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01509:Cdh10
|
APN |
15 |
18,986,884 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01561:Cdh10
|
APN |
15 |
19,000,012 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01743:Cdh10
|
APN |
15 |
18,986,855 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02065:Cdh10
|
APN |
15 |
19,013,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02083:Cdh10
|
APN |
15 |
18,986,975 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02238:Cdh10
|
APN |
15 |
19,013,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Cdh10
|
APN |
15 |
18,899,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03397:Cdh10
|
APN |
15 |
18,964,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Cdh10
|
UTSW |
15 |
18,986,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0828:Cdh10
|
UTSW |
15 |
18,986,837 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1488:Cdh10
|
UTSW |
15 |
19,013,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Cdh10
|
UTSW |
15 |
18,986,853 (GRCm39) |
nonsense |
probably null |
|
|
R1674:Cdh10
|
UTSW |
15 |
19,013,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Cdh10
|
UTSW |
15 |
18,985,152 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1737:Cdh10
|
UTSW |
15 |
18,964,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:Cdh10
|
UTSW |
15 |
18,992,051 (GRCm39) |
nonsense |
probably null |
|
|
R1865:Cdh10
|
UTSW |
15 |
18,899,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1953:Cdh10
|
UTSW |
15 |
18,966,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2439:Cdh10
|
UTSW |
15 |
19,013,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3944:Cdh10
|
UTSW |
15 |
18,964,335 (GRCm39) |
missense |
probably benign |
|
|
R4320:Cdh10
|
UTSW |
15 |
18,985,251 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4765:Cdh10
|
UTSW |
15 |
19,013,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4831:Cdh10
|
UTSW |
15 |
19,013,664 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5102:Cdh10
|
UTSW |
15 |
18,986,971 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5166:Cdh10
|
UTSW |
15 |
19,013,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5217:Cdh10
|
UTSW |
15 |
18,966,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5843:Cdh10
|
UTSW |
15 |
18,985,286 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5902:Cdh10
|
UTSW |
15 |
18,985,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6263:Cdh10
|
UTSW |
15 |
18,964,154 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6636:Cdh10
|
UTSW |
15 |
18,985,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6770:Cdh10
|
UTSW |
15 |
18,985,308 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7046:Cdh10
|
UTSW |
15 |
19,013,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7362:Cdh10
|
UTSW |
15 |
18,899,780 (GRCm39) |
missense |
probably benign |
|
|
R7491:Cdh10
|
UTSW |
15 |
19,013,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7921:Cdh10
|
UTSW |
15 |
18,992,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Cdh10
|
UTSW |
15 |
18,964,335 (GRCm39) |
missense |
probably benign |
|
|
R8685:Cdh10
|
UTSW |
15 |
18,899,851 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8843:Cdh10
|
UTSW |
15 |
19,013,487 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8907:Cdh10
|
UTSW |
15 |
19,013,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Cdh10
|
UTSW |
15 |
19,011,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Cdh10
|
UTSW |
15 |
18,964,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Cdh10
|
UTSW |
15 |
19,013,521 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9497:Cdh10
|
UTSW |
15 |
18,964,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9584:Cdh10
|
UTSW |
15 |
18,992,095 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9638:Cdh10
|
UTSW |
15 |
18,964,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGCACCTAGTATCCATAAGTTGC -3'
(R):5'- CTTGTTGAAGGAATTGGGTAACTTGAC -3'
Sequencing Primer
(F):5'- GCATATCTAATTTGAATCTGGCACAC -3'
(R):5'- TGTTGTCACCATTATAAACGTCAACC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation