Incidental Mutation 'R6239:Pcdh12'
| ID |
505147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh12
|
| Ensembl Gene |
ENSMUSG00000024440 |
| Gene Name |
protocadherin 12 |
| Synonyms |
VE-cadherin-2, vascular endothelial cadherin-2 |
| MMRRC Submission |
044363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38400145-38417454 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38415454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 557
(D557G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025311]
[ENSMUST00000194012]
|
| AlphaFold |
O55134 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025311
AA Change: D557G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025311
Gene: ENSMUSG00000024440
AA Change: D557G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
CA
|
53 |
133 |
4.42e-2 |
SMART |
|
CA
|
157 |
242 |
2.55e-17 |
SMART |
|
CA
|
266 |
350 |
2.31e-24 |
SMART |
|
CA
|
376 |
458 |
3.86e-26 |
SMART |
|
CA
|
482 |
563 |
6.27e-26 |
SMART |
|
CA
|
621 |
704 |
3.02e-2 |
SMART |
|
transmembrane domain
|
716 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1115 |
1125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194012
|
| SMART Domains |
Protein: ENSMUSP00000141907
Gene: ENSMUSG00000024440
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195747
|
| Meta Mutation Damage Score |
0.9602 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are viable, fertile and do not display any obvious histomorphological abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
A |
1: 78,674,182 (GRCm39) |
S373T |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,344,550 (GRCm39) |
|
probably null |
Het |
| Apol7c |
T |
C |
15: 77,410,631 (GRCm39) |
E105G |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,767,065 (GRCm39) |
A184T |
probably damaging |
Het |
| Castor1 |
A |
G |
11: 4,168,967 (GRCm39) |
T45A |
possibly damaging |
Het |
| Casz1 |
A |
G |
4: 149,022,734 (GRCm39) |
Q600R |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,421,332 (GRCm39) |
S1133T |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,233,927 (GRCm39) |
I2290V |
possibly damaging |
Het |
| Clmn |
A |
T |
12: 104,747,104 (GRCm39) |
H814Q |
probably benign |
Het |
| Creb3l1 |
A |
G |
2: 91,825,748 (GRCm39) |
C124R |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,466 (GRCm39) |
D1067G |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,361 (GRCm39) |
V354E |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,900 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,178,839 (GRCm39) |
D563E |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,465,750 (GRCm39) |
F607L |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,193 (GRCm39) |
F288I |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,029,333 (GRCm39) |
R4101C |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,923,640 (GRCm39) |
N396K |
probably benign |
Het |
| Dnase2a |
G |
T |
8: 85,635,508 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
C |
T |
19: 43,836,624 (GRCm39) |
V1235I |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,275 (GRCm39) |
D1826G |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,315 (GRCm39) |
Y337C |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,579 (GRCm39) |
E202D |
probably benign |
Het |
| Fus |
C |
T |
7: 127,580,606 (GRCm39) |
R228C |
possibly damaging |
Het |
| Gbf1 |
A |
G |
19: 46,248,135 (GRCm39) |
E304G |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,515 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,245,918 (GRCm39) |
D354V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,982,694 (GRCm39) |
D8G |
probably benign |
Het |
| Hhat |
A |
T |
1: 192,277,395 (GRCm39) |
Y355N |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,247,946 (GRCm39) |
V268A |
probably benign |
Het |
| Il4i1 |
A |
G |
7: 44,489,836 (GRCm39) |
R542G |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,356,144 (GRCm39) |
V328I |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,593,995 (GRCm39) |
I194N |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,717 (GRCm39) |
L2025P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,164,000 (GRCm39) |
N1986S |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,943,650 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
T |
A |
18: 39,906,891 (GRCm39) |
L52Q |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,156,910 (GRCm39) |
S847G |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,058,425 (GRCm39) |
L128* |
probably null |
Het |
| Ptpn3 |
C |
A |
4: 57,249,981 (GRCm39) |
A172S |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,357,606 (GRCm39) |
T366S |
probably benign |
Het |
| Reg4 |
A |
G |
3: 98,138,600 (GRCm39) |
K100R |
probably null |
Het |
| Rims2 |
A |
T |
15: 39,061,758 (GRCm39) |
M1L |
unknown |
Het |
| Sele |
A |
G |
1: 163,878,377 (GRCm39) |
S239G |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,423,274 (GRCm39) |
R375Q |
possibly damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,248,617 (GRCm39) |
T554A |
unknown |
Het |
| Snw1 |
A |
T |
12: 87,511,398 (GRCm39) |
N84K |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,718,667 (GRCm39) |
Y171C |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,926,388 (GRCm39) |
S1075T |
probably damaging |
Het |
| Tmem222 |
T |
A |
4: 132,995,606 (GRCm39) |
H147L |
probably damaging |
Het |
| Tmprss11f |
G |
T |
5: 86,681,636 (GRCm39) |
R206S |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,982,529 (GRCm39) |
T70M |
possibly damaging |
Het |
| Trpv4 |
G |
A |
5: 114,782,887 (GRCm39) |
T25I |
probably benign |
Het |
| Ttr |
T |
C |
18: 20,806,692 (GRCm39) |
V114A |
possibly damaging |
Het |
| Umod |
C |
T |
7: 119,076,520 (GRCm39) |
C82Y |
probably damaging |
Het |
| Upk3a |
T |
A |
15: 84,905,515 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn1r59 |
G |
A |
7: 5,457,539 (GRCm39) |
P74S |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,393,457 (GRCm39) |
R851S |
probably benign |
Het |
| Zfp236 |
G |
T |
18: 82,675,229 (GRCm39) |
T421K |
possibly damaging |
Het |
| Zswim9 |
C |
A |
7: 12,995,257 (GRCm39) |
G300* |
probably null |
Het |
|
| Other mutations in Pcdh12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Pcdh12
|
APN |
18 |
38,414,510 (GRCm39) |
missense |
probably benign |
|
|
IGL00964:Pcdh12
|
APN |
18 |
38,415,784 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01105:Pcdh12
|
APN |
18 |
38,408,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02011:Pcdh12
|
APN |
18 |
38,414,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02234:Pcdh12
|
APN |
18 |
38,416,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Pcdh12
|
APN |
18 |
38,414,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03412:Pcdh12
|
APN |
18 |
38,416,568 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0729:Pcdh12
|
UTSW |
18 |
38,415,517 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1330:Pcdh12
|
UTSW |
18 |
38,414,914 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1394:Pcdh12
|
UTSW |
18 |
38,414,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1413:Pcdh12
|
UTSW |
18 |
38,416,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Pcdh12
|
UTSW |
18 |
38,415,196 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2115:Pcdh12
|
UTSW |
18 |
38,417,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Pcdh12
|
UTSW |
18 |
38,415,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Pcdh12
|
UTSW |
18 |
38,415,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3810:Pcdh12
|
UTSW |
18 |
38,414,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:Pcdh12
|
UTSW |
18 |
38,416,667 (GRCm39) |
nonsense |
probably null |
|
|
R5275:Pcdh12
|
UTSW |
18 |
38,417,154 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5400:Pcdh12
|
UTSW |
18 |
38,401,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Pcdh12
|
UTSW |
18 |
38,416,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5539:Pcdh12
|
UTSW |
18 |
38,414,797 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5604:Pcdh12
|
UTSW |
18 |
38,401,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Pcdh12
|
UTSW |
18 |
38,416,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Pcdh12
|
UTSW |
18 |
38,414,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6129:Pcdh12
|
UTSW |
18 |
38,410,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6508:Pcdh12
|
UTSW |
18 |
38,414,390 (GRCm39) |
nonsense |
probably null |
|
|
R7250:Pcdh12
|
UTSW |
18 |
38,415,029 (GRCm39) |
missense |
probably benign |
|
|
R7259:Pcdh12
|
UTSW |
18 |
38,414,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7271:Pcdh12
|
UTSW |
18 |
38,416,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Pcdh12
|
UTSW |
18 |
38,414,842 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8103:Pcdh12
|
UTSW |
18 |
38,415,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Pcdh12
|
UTSW |
18 |
38,415,850 (GRCm39) |
missense |
probably benign |
|
|
R8322:Pcdh12
|
UTSW |
18 |
38,414,630 (GRCm39) |
nonsense |
probably null |
|
|
R8471:Pcdh12
|
UTSW |
18 |
38,415,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8503:Pcdh12
|
UTSW |
18 |
38,415,574 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8510:Pcdh12
|
UTSW |
18 |
38,415,109 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8677:Pcdh12
|
UTSW |
18 |
38,415,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8788:Pcdh12
|
UTSW |
18 |
38,416,109 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9274:Pcdh12
|
UTSW |
18 |
38,415,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9639:Pcdh12
|
UTSW |
18 |
38,402,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Pcdh12
|
UTSW |
18 |
38,415,022 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Pcdh12
|
UTSW |
18 |
38,416,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCCCTAGCCACGATTG -3'
(R):5'- AAAAGTGTCATACCGTATCAAGGAC -3'
Sequencing Primer
(F):5'- GCATCCCTAGCCACGATTGTTAAC -3'
(R):5'- GTCATACCGTATCAAGGACTCCCC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation