Incidental Mutation 'R5217:Cdh10'
| ID |
403567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh10
|
| Ensembl Gene |
ENSMUSG00000022321 |
| Gene Name |
cadherin 10 |
| Synonyms |
C030011H18Rik, A830016G23Rik, C030003B10Rik, T2-cadherin |
| MMRRC Submission |
042790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5217 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
18819033-19014322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18966108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 198
(V198F)
|
| 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: V198F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042199
Gene: ENSMUSG00000022321
AA Change: V198F
| 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: V198F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128782
Gene: ENSMUSG00000022321
AA Change: V198F
| 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 damaging
Transcript: ENSMUST00000176146
AA Change: V198F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135546
Gene: ENSMUSG00000022321
AA Change: V198F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176593
|
| Meta Mutation Damage Score |
0.5519 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| Abhd11 |
T |
A |
5: 135,040,398 (GRCm39) |
W144R |
probably damaging |
Het |
| Abhd2 |
A |
G |
7: 78,973,378 (GRCm39) |
E119G |
probably benign |
Het |
| Acbd3 |
A |
G |
1: 180,553,938 (GRCm39) |
Y91C |
probably benign |
Het |
| Aox4 |
C |
A |
1: 58,285,400 (GRCm39) |
S628* |
probably null |
Het |
| Bahcc1 |
T |
A |
11: 120,165,285 (GRCm39) |
Y905* |
probably null |
Het |
| Baiap2l2 |
T |
G |
15: 79,154,687 (GRCm39) |
S211R |
probably benign |
Het |
| Cab39l |
T |
A |
14: 59,764,258 (GRCm39) |
Y206* |
probably null |
Het |
| Cacna1i |
A |
T |
15: 80,275,041 (GRCm39) |
T1830S |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,723 (GRCm39) |
L793* |
probably null |
Het |
| Cenpk |
A |
T |
13: 104,385,917 (GRCm39) |
I271F |
probably damaging |
Het |
| Chchd4 |
A |
T |
6: 91,442,260 (GRCm39) |
C53S |
probably damaging |
Het |
| Cluh |
T |
G |
11: 74,550,531 (GRCm39) |
C252W |
probably damaging |
Het |
| Cmklr1 |
G |
T |
5: 113,752,710 (GRCm39) |
A97E |
probably damaging |
Het |
| Coil |
C |
A |
11: 88,871,987 (GRCm39) |
A116D |
possibly damaging |
Het |
| Eif1ad9 |
A |
G |
12: 88,296,196 (GRCm39) |
H58R |
probably benign |
Het |
| F830045P16Rik |
C |
A |
2: 129,305,493 (GRCm39) |
V294F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,969,939 (GRCm39) |
M1196K |
possibly damaging |
Het |
| Gabra5 |
G |
A |
7: 57,140,604 (GRCm39) |
S31L |
probably benign |
Het |
| Gm7135 |
A |
T |
1: 97,362,790 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
C |
A |
3: 88,794,882 (GRCm39) |
T695K |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,491,614 (GRCm39) |
H3684R |
possibly damaging |
Het |
| Ica1l |
T |
A |
1: 60,054,917 (GRCm39) |
M105L |
probably benign |
Het |
| Ift70a1 |
A |
G |
2: 75,811,147 (GRCm39) |
L312P |
probably damaging |
Het |
| Igkv8-24 |
A |
T |
6: 70,194,386 (GRCm39) |
V7D |
probably damaging |
Het |
| Klf10 |
G |
A |
15: 38,296,331 (GRCm39) |
R420W |
probably damaging |
Het |
| Klrc2 |
C |
A |
6: 129,633,843 (GRCm39) |
W177C |
probably damaging |
Het |
| Krit1 |
T |
A |
5: 3,856,451 (GRCm39) |
C15* |
probably null |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lrrc37a |
C |
T |
11: 103,347,780 (GRCm39) |
V2972I |
unknown |
Het |
| Mapkapk5 |
T |
C |
5: 121,672,492 (GRCm39) |
D13G |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,838,489 (GRCm39) |
L804I |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mrto4 |
A |
G |
4: 139,075,770 (GRCm39) |
Y119H |
probably benign |
Het |
| Nbeal2 |
G |
T |
9: 110,461,158 (GRCm39) |
A1635E |
possibly damaging |
Het |
| Ndc1 |
T |
C |
4: 107,246,773 (GRCm39) |
S399P |
probably benign |
Het |
| Ndufv2 |
A |
G |
17: 66,394,424 (GRCm39) |
I147T |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,052,142 (GRCm39) |
E382* |
probably null |
Het |
| Nhsl3 |
C |
T |
4: 129,116,478 (GRCm39) |
E729K |
probably damaging |
Het |
| Nme8 |
T |
A |
13: 19,880,861 (GRCm39) |
I32F |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,491,793 (GRCm39) |
|
probably null |
Het |
| Or8g23 |
A |
G |
9: 38,971,065 (GRCm39) |
V299A |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,630,939 (GRCm39) |
M245L |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,061,477 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
T |
G |
7: 140,840,616 (GRCm39) |
D1270E |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,382,790 (GRCm39) |
K277E |
possibly damaging |
Het |
| Ppan |
T |
C |
9: 20,802,221 (GRCm39) |
V204A |
possibly damaging |
Het |
| Ppp1r9a |
A |
T |
6: 5,115,367 (GRCm39) |
N830I |
probably damaging |
Het |
| Pxn |
C |
G |
5: 115,682,974 (GRCm39) |
A92G |
probably benign |
Het |
| Qsox1 |
A |
G |
1: 155,666,742 (GRCm39) |
V249A |
probably benign |
Het |
| Rgl3 |
T |
A |
9: 21,898,944 (GRCm39) |
*88C |
probably null |
Het |
| Rps6kc1 |
A |
T |
1: 190,515,802 (GRCm39) |
W975R |
probably damaging |
Het |
| Sash1 |
G |
T |
10: 8,656,368 (GRCm39) |
A208D |
possibly damaging |
Het |
| Simc1 |
A |
T |
13: 54,687,709 (GRCm39) |
|
probably benign |
Het |
| Sox7 |
T |
C |
14: 64,185,449 (GRCm39) |
Y162H |
probably damaging |
Het |
| Srp72 |
T |
A |
5: 77,128,375 (GRCm39) |
L171H |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,881,476 (GRCm39) |
Y577F |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tagln |
T |
C |
9: 45,842,177 (GRCm39) |
T139A |
probably benign |
Het |
| Thbs3 |
T |
C |
3: 89,130,471 (GRCm39) |
|
probably null |
Het |
| Tmem216 |
G |
A |
19: 10,529,155 (GRCm39) |
T131M |
possibly damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,249 (GRCm39) |
V142A |
probably benign |
Het |
| Trarg1 |
C |
G |
11: 76,585,102 (GRCm39) |
A164G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubtf |
T |
C |
11: 102,199,128 (GRCm39) |
M511V |
probably null |
Het |
| Ugt2b36 |
A |
T |
5: 87,214,114 (GRCm39) |
V510E |
probably damaging |
Het |
| Vars2 |
G |
C |
17: 35,969,041 (GRCm39) |
P887A |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,004,980 (GRCm39) |
M206V |
possibly damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,990 (GRCm39) |
F465L |
probably benign |
Het |
| Zfp119a |
G |
A |
17: 56,172,425 (GRCm39) |
Q473* |
probably null |
Het |
| Zfp607a |
T |
G |
7: 27,577,269 (GRCm39) |
I113R |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,581,787 (GRCm39) |
L28H |
probably damaging |
Het |
| Zmym6 |
C |
A |
4: 126,999,167 (GRCm39) |
N450K |
possibly 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 |
|
R4330:Cdh10
|
UTSW |
15 |
19,000,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGCAACACTGTATGCCTTTATC -3'
(R):5'- ATGCACAGCAGAAGGGTTTC -3'
Sequencing Primer
(F):5'- GTATCTAACAGTTCCTTAAAGTGGTC -3'
(R):5'- GGTTCATGTTCTGTAAAAACAACACG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation