Incidental Mutation 'PIT4486001:Cdh3'
| ID |
556104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh3
|
| Ensembl Gene |
ENSMUSG00000061048 |
| Gene Name |
cadherin 3 |
| Synonyms |
P-cadherin, Cadp, Pcad |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
PIT4486001 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
107237484-107283543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107268122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 386
(K386E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080797]
|
| AlphaFold |
P10287 |
| PDB Structure |
Crystal structure of mouse P-cadherin extracellular domains EC1-EC2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080797
AA Change: K386E
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: K386E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CA
|
122 |
205 |
7.57e-11 |
SMART |
|
CA
|
229 |
318 |
1.68e-26 |
SMART |
|
CA
|
341 |
431 |
4.21e-18 |
SMART |
|
CA
|
454 |
538 |
1.28e-22 |
SMART |
|
Pfam:Cadherin_C
|
673 |
818 |
3.9e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.5%
- 10x: 84.1%
- 20x: 70.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a calcium-dependent cell-cell adhesion protein containing five cadherin domains. The encoded protein plays a role in epithelial outgrowth, such as that which occurs during the development of hair follicles and limb buds. Loss of function of the related gene in humans results in ectodermal dysplasia, ectrodactyly, and macular dystrophy and congential hypotrichosis with juvenile macular dystrophy. This gene is located in the vicinity of similar cadherin genes on chromosome 8. The proprotein is further cleaved into a functional chain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutation of this gene results in precocious development of mammary glands in virgin 10-week old females. Aged virgin females (24 weeks) exhibit alveolar hyperplasia, ductal dysplasia, and extensive lymphocyte infiltration of the mammary glands. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 144,980,914 (GRCm39) |
S108P |
probably damaging |
Het |
| Abhd16b |
A |
T |
2: 181,135,752 (GRCm39) |
Q218L |
probably benign |
Het |
| Abhd3 |
T |
A |
18: 10,645,233 (GRCm39) |
I354F |
probably benign |
Het |
| Abt1 |
T |
C |
13: 23,607,851 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Actl9 |
T |
A |
17: 33,653,172 (GRCm39) |
Y411N |
possibly damaging |
Het |
| Ano4 |
A |
G |
10: 88,828,891 (GRCm39) |
V516A |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,945,614 (GRCm39) |
S2542T |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,862,163 (GRCm39) |
V1045M |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,645,087 (GRCm39) |
I280K |
probably damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cks1b |
C |
A |
3: 89,323,621 (GRCm39) |
Q49H |
probably damaging |
Het |
| Clpb |
A |
T |
7: 101,313,139 (GRCm39) |
D41V |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,302 (GRCm39) |
M359K |
probably damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,908,228 (GRCm39) |
I207N |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,717,701 (GRCm39) |
L566* |
probably null |
Het |
| Dhtkd1 |
A |
T |
2: 5,904,806 (GRCm39) |
D859E |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,857,514 (GRCm39) |
D295G |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,774,698 (GRCm39) |
T91A |
possibly damaging |
Het |
| Gm11569 |
GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA |
GCA |
11: 99,689,491 (GRCm39) |
|
probably benign |
Het |
| Gsdma3 |
A |
G |
11: 98,528,880 (GRCm39) |
K454E |
unknown |
Het |
| Herc1 |
T |
A |
9: 66,279,671 (GRCm39) |
I193N |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,556,423 (GRCm39) |
L1370Q |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,509,027 (GRCm39) |
H980Q |
unknown |
Het |
| Map4 |
T |
G |
9: 109,901,682 (GRCm39) |
V965G |
probably damaging |
Het |
| Mkrn2os |
T |
C |
6: 115,562,444 (GRCm39) |
D173G |
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,532,300 (GRCm39) |
D232G |
probably damaging |
Het |
| Nipal2 |
C |
T |
15: 34,584,875 (GRCm39) |
G231D |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,373,737 (GRCm39) |
N490K |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,529 (GRCm39) |
S220P |
possibly damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,535 (GRCm39) |
C141* |
probably null |
Het |
| Prkar2a |
T |
C |
9: 108,610,326 (GRCm39) |
L185S |
probably damaging |
Het |
| Ptpn9 |
T |
G |
9: 56,968,287 (GRCm39) |
N542K |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,662,326 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
A |
G |
19: 42,728,828 (GRCm39) |
S191P |
probably benign |
Het |
| Rab15 |
T |
A |
12: 76,848,716 (GRCm39) |
K122* |
probably null |
Het |
| Rara |
A |
G |
11: 98,864,321 (GRCm39) |
N416S |
possibly damaging |
Het |
| Rims2 |
T |
C |
15: 39,339,916 (GRCm39) |
V870A |
possibly damaging |
Het |
| Sec16a |
T |
C |
2: 26,315,785 (GRCm39) |
T293A |
|
Het |
| Slc26a3 |
G |
A |
12: 31,520,949 (GRCm39) |
D718N |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,964,659 (GRCm39) |
V520I |
possibly damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,724,410 (GRCm39) |
P257S |
probably damaging |
Het |
| Tgfb2 |
A |
T |
1: 186,422,924 (GRCm39) |
Y142N |
probably benign |
Het |
| Tgfbi |
A |
T |
13: 56,777,607 (GRCm39) |
I364F |
probably damaging |
Het |
| Tmem144 |
A |
C |
3: 79,734,174 (GRCm39) |
D176E |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,962,161 (GRCm39) |
L612Q |
probably damaging |
Het |
| Toe1 |
A |
G |
4: 116,663,692 (GRCm39) |
L76S |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,219,175 (GRCm39) |
F1971L |
probably damaging |
Het |
| Tsen54 |
G |
T |
11: 115,713,422 (GRCm39) |
V481F |
probably damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,381 (GRCm39) |
L297P |
probably damaging |
Het |
| Wnt8a |
T |
C |
18: 34,680,636 (GRCm39) |
Y334H |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,741 (GRCm39) |
D573G |
possibly damaging |
Het |
|
| Other mutations in Cdh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Cdh3
|
APN |
8 |
107,281,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01431:Cdh3
|
APN |
8 |
107,274,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01466:Cdh3
|
APN |
8 |
107,263,227 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01794:Cdh3
|
APN |
8 |
107,263,758 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02100:Cdh3
|
APN |
8 |
107,270,322 (GRCm39) |
missense |
probably benign |
|
|
IGL02272:Cdh3
|
APN |
8 |
107,274,468 (GRCm39) |
splice site |
probably null |
|
|
IGL02292:Cdh3
|
APN |
8 |
107,271,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02553:Cdh3
|
APN |
8 |
107,270,880 (GRCm39) |
nonsense |
probably null |
|
|
IGL03245:Cdh3
|
APN |
8 |
107,279,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03376:Cdh3
|
APN |
8 |
107,268,036 (GRCm39) |
missense |
probably benign |
0.01 |
|
Arctus
|
UTSW |
8 |
107,266,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bebe
|
UTSW |
8 |
107,271,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
Byte
|
UTSW |
8 |
107,237,973 (GRCm39) |
missense |
probably benign |
|
|
puffin
|
UTSW |
8 |
107,270,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7512_Cdh3_158
|
UTSW |
8 |
107,265,640 (GRCm39) |
nonsense |
probably null |
|
|
R0143:Cdh3
|
UTSW |
8 |
107,237,857 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0388:Cdh3
|
UTSW |
8 |
107,265,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Cdh3
|
UTSW |
8 |
107,282,012 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0526:Cdh3
|
UTSW |
8 |
107,282,078 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0788:Cdh3
|
UTSW |
8 |
107,268,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1495:Cdh3
|
UTSW |
8 |
107,265,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Cdh3
|
UTSW |
8 |
107,265,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Cdh3
|
UTSW |
8 |
107,263,547 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2124:Cdh3
|
UTSW |
8 |
107,279,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2302:Cdh3
|
UTSW |
8 |
107,271,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2326:Cdh3
|
UTSW |
8 |
107,237,940 (GRCm39) |
missense |
probably benign |
|
|
R2508:Cdh3
|
UTSW |
8 |
107,279,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Cdh3
|
UTSW |
8 |
107,270,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3767:Cdh3
|
UTSW |
8 |
107,263,606 (GRCm39) |
splice site |
probably null |
|
|
R4679:Cdh3
|
UTSW |
8 |
107,266,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Cdh3
|
UTSW |
8 |
107,270,520 (GRCm39) |
missense |
probably benign |
|
|
R4778:Cdh3
|
UTSW |
8 |
107,270,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4928:Cdh3
|
UTSW |
8 |
107,263,242 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5069:Cdh3
|
UTSW |
8 |
107,263,458 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5101:Cdh3
|
UTSW |
8 |
107,268,024 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5204:Cdh3
|
UTSW |
8 |
107,270,871 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5309:Cdh3
|
UTSW |
8 |
107,265,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5343:Cdh3
|
UTSW |
8 |
107,279,568 (GRCm39) |
missense |
probably benign |
|
|
R5408:Cdh3
|
UTSW |
8 |
107,263,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6253:Cdh3
|
UTSW |
8 |
107,263,695 (GRCm39) |
splice site |
probably null |
|
|
R6637:Cdh3
|
UTSW |
8 |
107,237,973 (GRCm39) |
missense |
probably benign |
|
|
R6639:Cdh3
|
UTSW |
8 |
107,237,973 (GRCm39) |
missense |
probably benign |
|
|
R7142:Cdh3
|
UTSW |
8 |
107,271,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7371:Cdh3
|
UTSW |
8 |
107,279,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Cdh3
|
UTSW |
8 |
107,263,241 (GRCm39) |
nonsense |
probably null |
|
|
R7458:Cdh3
|
UTSW |
8 |
107,263,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Cdh3
|
UTSW |
8 |
107,265,640 (GRCm39) |
nonsense |
probably null |
|
|
R7522:Cdh3
|
UTSW |
8 |
107,268,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Cdh3
|
UTSW |
8 |
107,237,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9467:Cdh3
|
UTSW |
8 |
107,266,425 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9680:Cdh3
|
UTSW |
8 |
107,274,396 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGTGCCTGAGAACGAAG -3'
(R):5'- TTGATCTCCAATACCGCCATAG -3'
Sequencing Primer
(F):5'- CCTGAGAACGAAGTGGGCC -3'
(R):5'- TAGTACCCCAACCTGCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation