Incidental Mutation 'R2568:Cdh15'
| ID |
254633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh15
|
| Ensembl Gene |
ENSMUSG00000031962 |
| Gene Name |
cadherin 15 |
| Synonyms |
M cadherin, Mcad, Cdh14 |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123575113-123594136 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123588763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 279
(R279Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034443]
[ENSMUST00000127664]
|
| AlphaFold |
P33146 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034443
AA Change: R279Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034443
Gene: ENSMUSG00000031962
AA Change: R279Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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. 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,161 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,283,310 (GRCm39) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,748,562 (GRCm39) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,660,649 (GRCm39) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 125,283,694 (GRCm39) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,934,061 (GRCm39) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,295,697 (GRCm39) |
D133E |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,220,319 (GRCm39) |
M234L |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,804,468 (GRCm39) |
I1335T |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,711,566 (GRCm39) |
K444* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,707,832 (GRCm39) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,940,275 (GRCm39) |
D1218E |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,753 (GRCm39) |
V1010A |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 25,067,874 (GRCm39) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,225,516 (GRCm39) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,926,263 (GRCm39) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,848,249 (GRCm39) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,605 (GRCm39) |
S528T |
possibly damaging |
Het |
| Eeig2 |
T |
A |
3: 108,886,164 (GRCm39) |
N356I |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,637,080 (GRCm39) |
N172I |
probably damaging |
Het |
| Fam13a |
T |
G |
6: 58,912,594 (GRCm39) |
R686S |
probably damaging |
Het |
| Fam243 |
A |
G |
16: 92,118,207 (GRCm39) |
L27P |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,663,828 (GRCm39) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,805,331 (GRCm39) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,775 (GRCm39) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,784,010 (GRCm39) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,141,350 (GRCm39) |
S545P |
probably damaging |
Het |
| Krt87 |
G |
T |
15: 101,385,708 (GRCm39) |
R296S |
possibly damaging |
Het |
| Llgl1 |
T |
G |
11: 60,599,638 (GRCm39) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,291,702 (GRCm39) |
K186* |
probably null |
Het |
| Lrpprc |
C |
T |
17: 85,034,077 (GRCm39) |
A973T |
probably damaging |
Het |
| Marco |
T |
C |
1: 120,422,514 (GRCm39) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,906,001 (GRCm39) |
N394S |
probably null |
Het |
| Myo5a |
A |
G |
9: 75,030,322 (GRCm39) |
Y147C |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,059,179 (GRCm39) |
V469A |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,470,283 (GRCm39) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,247,312 (GRCm39) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Or1j13 |
T |
C |
2: 36,369,986 (GRCm39) |
D52G |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,705,878 (GRCm39) |
T142A |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,286 (GRCm39) |
V216A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,625,128 (GRCm39) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,550,997 (GRCm39) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,823,096 (GRCm39) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,506,219 (GRCm39) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,103,813 (GRCm39) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,457,568 (GRCm39) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,289,225 (GRCm39) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 46,248,407 (GRCm39) |
K553* |
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thg1l |
A |
G |
11: 45,842,392 (GRCm39) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,460,551 (GRCm39) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,663,646 (GRCm39) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,580,056 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,780,179 (GRCm39) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,304,601 (GRCm39) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,955 (GRCm39) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,719,147 (GRCm39) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,190,534 (GRCm39) |
S125T |
probably benign |
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 |
|
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 |
|
R5076:Cdh15
|
UTSW |
8 |
123,591,087 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- TCAGTCCAATATCCAGGAGCAG -3'
(R):5'- GATTCTAGCTGAGGGAACACAC -3'
Sequencing Primer
(F):5'- TGGGATCCATGGCTCTGGAAAC -3'
(R):5'- TTCTAGCTGAGGGAACACACATGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation