Incidental Mutation 'R3780:Cdh12'
| ID |
272028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh12
|
| Ensembl Gene |
ENSMUSG00000040452 |
| Gene Name |
cadherin 12 |
| Synonyms |
Br-cadherin |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R3780 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
20449351-21589619 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 21586063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075132]
[ENSMUST00000075132]
[ENSMUST00000075132]
[ENSMUST00000075132]
[ENSMUST00000227496]
[ENSMUST00000227496]
[ENSMUST00000227496]
[ENSMUST00000227496]
|
| AlphaFold |
Q5RJH3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075132
|
| SMART Domains |
Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CA
|
77 |
158 |
5.18e-18 |
SMART |
|
CA
|
182 |
267 |
4.4e-30 |
SMART |
|
CA
|
291 |
383 |
2.42e-18 |
SMART |
|
CA
|
406 |
487 |
7.55e-20 |
SMART |
|
CA
|
510 |
597 |
9.3e-2 |
SMART |
|
transmembrane domain
|
615 |
637 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
640 |
784 |
1.7e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000075132
|
| SMART Domains |
Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CA
|
77 |
158 |
5.18e-18 |
SMART |
|
CA
|
182 |
267 |
4.4e-30 |
SMART |
|
CA
|
291 |
383 |
2.42e-18 |
SMART |
|
CA
|
406 |
487 |
7.55e-20 |
SMART |
|
CA
|
510 |
597 |
9.3e-2 |
SMART |
|
transmembrane domain
|
615 |
637 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
640 |
784 |
1.7e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000075132
|
| SMART Domains |
Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CA
|
77 |
158 |
5.18e-18 |
SMART |
|
CA
|
182 |
267 |
4.4e-30 |
SMART |
|
CA
|
291 |
383 |
2.42e-18 |
SMART |
|
CA
|
406 |
487 |
7.55e-20 |
SMART |
|
CA
|
510 |
597 |
9.3e-2 |
SMART |
|
transmembrane domain
|
615 |
637 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
640 |
784 |
1.7e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000075132
|
| SMART Domains |
Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CA
|
77 |
158 |
5.18e-18 |
SMART |
|
CA
|
182 |
267 |
4.4e-30 |
SMART |
|
CA
|
291 |
383 |
2.42e-18 |
SMART |
|
CA
|
406 |
487 |
7.55e-20 |
SMART |
|
CA
|
510 |
597 |
9.3e-2 |
SMART |
|
transmembrane domain
|
615 |
637 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
640 |
784 |
1.7e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227496
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227496
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227496
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227496
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
93% (40/43) |
| 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 both the excitatory and inhibitory neurons in various areas of the adult central nervous system including the cerebellum, neocortex, hippocampus and in different subcortical nuclei. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
| Adam21 |
C |
T |
12: 81,606,047 (GRCm39) |
V572I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,788,638 (GRCm39) |
E111G |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
| Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
| Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
| Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
| Pex5l |
A |
G |
3: 33,004,993 (GRCm39) |
L593P |
probably damaging |
Het |
| Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
| Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
| Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
| Serpini1 |
T |
G |
3: 75,521,942 (GRCm39) |
N144K |
probably damaging |
Het |
| Slc22a23 |
G |
A |
13: 34,528,323 (GRCm39) |
T153I |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
| Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
| Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
| Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
probably damaging |
Het |
|
| Other mutations in Cdh12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01351:Cdh12
|
APN |
15 |
21,237,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01414:Cdh12
|
APN |
15 |
21,492,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Cdh12
|
APN |
15 |
21,480,425 (GRCm39) |
nonsense |
probably null |
|
|
IGL02894:Cdh12
|
APN |
15 |
21,586,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Cdh12
|
APN |
15 |
21,480,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03271:Cdh12
|
APN |
15 |
21,586,539 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03402:Cdh12
|
APN |
15 |
21,583,826 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0042:Cdh12
|
UTSW |
15 |
21,537,763 (GRCm39) |
splice site |
probably benign |
|
|
R0126:Cdh12
|
UTSW |
15 |
21,584,031 (GRCm39) |
missense |
probably benign |
|
|
R0239:Cdh12
|
UTSW |
15 |
21,586,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Cdh12
|
UTSW |
15 |
21,586,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Cdh12
|
UTSW |
15 |
21,578,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0421:Cdh12
|
UTSW |
15 |
21,480,310 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0918:Cdh12
|
UTSW |
15 |
21,492,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0972:Cdh12
|
UTSW |
15 |
21,237,850 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1014:Cdh12
|
UTSW |
15 |
21,492,706 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1304:Cdh12
|
UTSW |
15 |
21,584,023 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1677:Cdh12
|
UTSW |
15 |
21,520,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1735:Cdh12
|
UTSW |
15 |
21,520,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Cdh12
|
UTSW |
15 |
21,520,336 (GRCm39) |
splice site |
probably null |
|
|
R1950:Cdh12
|
UTSW |
15 |
21,237,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Cdh12
|
UTSW |
15 |
21,583,826 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2157:Cdh12
|
UTSW |
15 |
21,583,873 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2404:Cdh12
|
UTSW |
15 |
21,537,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Cdh12
|
UTSW |
15 |
21,358,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Cdh12
|
UTSW |
15 |
21,583,912 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3704:Cdh12
|
UTSW |
15 |
21,583,912 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3743:Cdh12
|
UTSW |
15 |
21,537,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3771:Cdh12
|
UTSW |
15 |
21,578,640 (GRCm39) |
splice site |
probably benign |
|
|
R4750:Cdh12
|
UTSW |
15 |
21,583,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5373:Cdh12
|
UTSW |
15 |
21,583,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Cdh12
|
UTSW |
15 |
21,583,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Cdh12
|
UTSW |
15 |
21,237,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5548:Cdh12
|
UTSW |
15 |
21,492,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5746:Cdh12
|
UTSW |
15 |
21,358,810 (GRCm39) |
missense |
probably null |
1.00 |
|
R5960:Cdh12
|
UTSW |
15 |
21,492,562 (GRCm39) |
splice site |
probably null |
|
|
R6248:Cdh12
|
UTSW |
15 |
21,237,800 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6379:Cdh12
|
UTSW |
15 |
21,492,743 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6419:Cdh12
|
UTSW |
15 |
21,520,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6561:Cdh12
|
UTSW |
15 |
21,492,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Cdh12
|
UTSW |
15 |
21,583,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7025:Cdh12
|
UTSW |
15 |
21,358,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Cdh12
|
UTSW |
15 |
21,583,915 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7508:Cdh12
|
UTSW |
15 |
21,583,851 (GRCm39) |
missense |
probably benign |
|
|
R8126:Cdh12
|
UTSW |
15 |
21,558,393 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8307:Cdh12
|
UTSW |
15 |
21,358,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8307:Cdh12
|
UTSW |
15 |
21,358,949 (GRCm39) |
missense |
probably benign |
|
|
R8969:Cdh12
|
UTSW |
15 |
21,492,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Cdh12
|
UTSW |
15 |
21,237,825 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9272:Cdh12
|
UTSW |
15 |
21,492,801 (GRCm39) |
splice site |
probably benign |
|
|
X0065:Cdh12
|
UTSW |
15 |
21,358,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTTTCAATGTGAAAGTGG -3'
(R):5'- AGAGGGAGTCTGGTTTTATATCCC -3'
Sequencing Primer
(F):5'- CGTTTCAATGTGAAAGTGGCAATAG -3'
(R):5'- CTGGTTTTATATCCCTGCGAATTTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation