Incidental Mutation 'R5076:Cdh15'
| ID |
395775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh15
|
| Ensembl Gene |
ENSMUSG00000031962 |
| Gene Name |
cadherin 15 |
| Synonyms |
M cadherin, Mcad, Cdh14 |
| MMRRC Submission |
042665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123575113-123594136 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123591087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 445
(D445E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034443]
[ENSMUST00000127664]
|
| AlphaFold |
P33146 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034443
AA Change: D445E
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034443
Gene: ENSMUSG00000031962
AA Change: D445E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CA
|
64 |
149 |
5.95e-18 |
SMART |
|
CA
|
173 |
257 |
3.09e-25 |
SMART |
|
CA
|
280 |
373 |
2.5e-11 |
SMART |
|
CA
|
396 |
480 |
3.45e-14 |
SMART |
|
Pfam:Cadherin
|
486 |
579 |
5.2e-9 |
PFAM |
|
transmembrane domain
|
603 |
625 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
633 |
783 |
6.7e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.0%
|
| Validation Efficiency |
97% (66/68) |
| 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. Based on the expression of this gene in skeletal muscle, satellite cells and cerebellum, it was postulated that the encoded protein may be important for muscle development and regeneration. Mice lacking the encoded protein appear normal and display no discernible defects in skeletal musculature. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no apparent defects in the development, maintenance, or regeneration of skeletal muscle or in the cerebellum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,963,559 (GRCm39) |
I72V |
probably benign |
Het |
| Aadacl3 |
G |
A |
4: 144,182,640 (GRCm39) |
P276L |
possibly damaging |
Het |
| Acp6 |
T |
A |
3: 97,075,305 (GRCm39) |
S180T |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,221,053 (GRCm39) |
R449* |
probably null |
Het |
| Ak1 |
T |
C |
2: 32,523,460 (GRCm39) |
V176A |
probably damaging |
Het |
| Capzb |
A |
T |
4: 139,015,125 (GRCm39) |
D226V |
possibly damaging |
Het |
| Cd34 |
A |
T |
1: 194,630,338 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,109,913 (GRCm39) |
F367L |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,365,132 (GRCm39) |
Y458C |
probably damaging |
Het |
| Cplane2 |
A |
G |
4: 140,944,696 (GRCm39) |
I82M |
probably benign |
Het |
| Ctsw |
T |
C |
19: 5,518,486 (GRCm39) |
Y9C |
probably benign |
Het |
| Dhrs7 |
T |
C |
12: 72,706,255 (GRCm39) |
D50G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,584,799 (GRCm39) |
K3177E |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,327,251 (GRCm39) |
F83L |
probably benign |
Het |
| Eif5a2 |
G |
A |
3: 28,836,886 (GRCm39) |
V59I |
possibly damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,238 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,975,066 (GRCm39) |
S426G |
possibly damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,040,984 (GRCm39) |
G493D |
probably damaging |
Het |
| Gm11596 |
C |
T |
11: 99,683,698 (GRCm39) |
G141R |
unknown |
Het |
| Gpi-ps |
T |
G |
8: 5,690,130 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q4 |
T |
C |
17: 35,599,417 (GRCm39) |
Y167H |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,382,490 (GRCm39) |
|
probably null |
Het |
| Kif2c |
A |
T |
4: 117,032,066 (GRCm39) |
|
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,096,751 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap9-5 |
A |
T |
11: 99,840,294 (GRCm39) |
T332S |
unknown |
Het |
| Lrrc39 |
A |
T |
3: 116,373,189 (GRCm39) |
E283V |
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,069,528 (GRCm39) |
S447P |
possibly damaging |
Het |
| Mindy1 |
G |
A |
3: 95,202,710 (GRCm39) |
V425M |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Muc3a |
T |
A |
5: 137,244,997 (GRCm39) |
T159S |
probably damaging |
Het |
| Or10ad1b |
T |
A |
15: 98,124,642 (GRCm39) |
I295F |
probably damaging |
Het |
| Or4a79 |
T |
A |
2: 89,551,745 (GRCm39) |
T237S |
probably damaging |
Het |
| Or4f6 |
A |
T |
2: 111,838,937 (GRCm39) |
M198K |
probably damaging |
Het |
| Pcdhga4 |
G |
A |
18: 37,818,648 (GRCm39) |
V66I |
probably benign |
Het |
| Pdhx |
T |
C |
2: 102,871,422 (GRCm39) |
T203A |
probably damaging |
Het |
| Pdss1 |
A |
G |
2: 22,789,929 (GRCm39) |
|
probably null |
Het |
| Pdxk |
G |
T |
10: 78,286,141 (GRCm39) |
Q103K |
probably benign |
Het |
| Peg3 |
A |
G |
7: 6,711,419 (GRCm39) |
C1268R |
probably damaging |
Het |
| Pitpnc1 |
A |
T |
11: 107,187,093 (GRCm39) |
S77T |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,874,990 (GRCm39) |
|
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,943,703 (GRCm39) |
T22I |
probably damaging |
Het |
| Ppfia1 |
G |
A |
7: 144,060,001 (GRCm39) |
R604W |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,680 (GRCm39) |
F189S |
probably damaging |
Het |
| Rbks |
T |
A |
5: 31,807,795 (GRCm39) |
Y99* |
probably null |
Het |
| Sh3rf2 |
G |
T |
18: 42,186,989 (GRCm39) |
C36F |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,889 (GRCm39) |
N303K |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,626,357 (GRCm39) |
V1198I |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,606,401 (GRCm39) |
T518A |
probably benign |
Het |
| Tmem163 |
A |
T |
1: 127,428,013 (GRCm39) |
V191D |
probably damaging |
Het |
| Trappc6b |
A |
G |
12: 59,097,094 (GRCm39) |
V76A |
probably damaging |
Het |
| Ube2nl |
A |
G |
7: 61,199,280 (GRCm39) |
|
noncoding transcript |
Het |
| Unc5d |
C |
T |
8: 29,184,704 (GRCm39) |
V599M |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,346 (GRCm39) |
M31L |
probably benign |
Het |
| Vrtn |
C |
A |
12: 84,696,248 (GRCm39) |
Q333K |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,298,008 (GRCm39) |
F163I |
possibly damaging |
Het |
| Zfyve1 |
C |
T |
12: 83,602,421 (GRCm39) |
R458H |
probably damaging |
Het |
|
| Other mutations in Cdh15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Cdh15
|
APN |
8 |
123,592,062 (GRCm39) |
intron |
probably benign |
|
|
IGL01958:Cdh15
|
APN |
8 |
123,586,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02588:Cdh15
|
APN |
8 |
123,583,291 (GRCm39) |
nonsense |
probably null |
|
|
IGL02793:Cdh15
|
APN |
8 |
123,587,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Cdh15
|
APN |
8 |
123,592,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0310:Cdh15
|
UTSW |
8 |
123,592,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Cdh15
|
UTSW |
8 |
123,587,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:Cdh15
|
UTSW |
8 |
123,588,188 (GRCm39) |
intron |
probably benign |
|
|
R0898:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1023:Cdh15
|
UTSW |
8 |
123,591,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1054:Cdh15
|
UTSW |
8 |
123,591,076 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1072:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1081:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Cdh15
|
UTSW |
8 |
123,587,585 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1208:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1209:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1210:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Cdh15
|
UTSW |
8 |
123,588,188 (GRCm39) |
intron |
probably benign |
|
|
R1317:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1318:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Cdh15
|
UTSW |
8 |
123,584,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Cdh15
|
UTSW |
8 |
123,588,755 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2157:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2170:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2178:Cdh15
|
UTSW |
8 |
123,591,715 (GRCm39) |
splice site |
probably null |
|
|
R2252:Cdh15
|
UTSW |
8 |
123,584,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Cdh15
|
UTSW |
8 |
123,586,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2317:Cdh15
|
UTSW |
8 |
123,583,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2330:Cdh15
|
UTSW |
8 |
123,583,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2345:Cdh15
|
UTSW |
8 |
123,583,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2349:Cdh15
|
UTSW |
8 |
123,583,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2353:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2354:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Cdh15
|
UTSW |
8 |
123,583,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2894:Cdh15
|
UTSW |
8 |
123,583,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2937:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2990:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2992:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2993:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3029:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3030:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3195:Cdh15
|
UTSW |
8 |
123,583,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3441:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3442:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3686:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Cdh15
|
UTSW |
8 |
123,590,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Cdh15
|
UTSW |
8 |
123,590,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4477:Cdh15
|
UTSW |
8 |
123,591,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4478:Cdh15
|
UTSW |
8 |
123,591,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4480:Cdh15
|
UTSW |
8 |
123,591,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4580:Cdh15
|
UTSW |
8 |
123,591,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Cdh15
|
UTSW |
8 |
123,591,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4619:Cdh15
|
UTSW |
8 |
123,587,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Cdh15
|
UTSW |
8 |
123,588,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Cdh15
|
UTSW |
8 |
123,588,802 (GRCm39) |
missense |
probably null |
1.00 |
|
R5375:Cdh15
|
UTSW |
8 |
123,591,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Cdh15
|
UTSW |
8 |
123,591,917 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5778:Cdh15
|
UTSW |
8 |
123,583,326 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6320:Cdh15
|
UTSW |
8 |
123,591,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6570:Cdh15
|
UTSW |
8 |
123,584,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Cdh15
|
UTSW |
8 |
123,590,294 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7505:Cdh15
|
UTSW |
8 |
123,575,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7527:Cdh15
|
UTSW |
8 |
123,588,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Cdh15
|
UTSW |
8 |
123,593,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Cdh15
|
UTSW |
8 |
123,593,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Cdh15
|
UTSW |
8 |
123,584,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Cdh15
|
UTSW |
8 |
123,587,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Cdh15
|
UTSW |
8 |
123,575,240 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9017:Cdh15
|
UTSW |
8 |
123,584,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9453:Cdh15
|
UTSW |
8 |
123,586,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9699:Cdh15
|
UTSW |
8 |
123,588,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9705:Cdh15
|
UTSW |
8 |
123,591,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cdh15
|
UTSW |
8 |
123,590,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGTCACATATGGGTATG -3'
(R):5'- TAGGATCTCGATGGACAGGG -3'
Sequencing Primer
(F):5'- ATGTCTAGGCATCTTGGG -3'
(R):5'- TACCCTGTCAGTTGTCCA -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation