Incidental Mutation 'R5373:Cdh12'
| ID |
428895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh12
|
| Ensembl Gene |
ENSMUSG00000040452 |
| Gene Name |
cadherin 12 |
| Synonyms |
Br-cadherin |
| MMRRC Submission |
042949-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R5373 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
20449351-21589619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 21583998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 613
(S613R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075132]
[ENSMUST00000227496]
|
| AlphaFold |
Q5RJH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075132
AA Change: S613R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074632
Gene: ENSMUSG00000040452
AA Change: S613R
| 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 damaging
Transcript: ENSMUST00000227496
AA Change: S613R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.3062 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (74/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,396 (GRCm39) |
S862G |
probably benign |
Het |
| Abcb5 |
G |
T |
12: 118,850,912 (GRCm39) |
T887K |
probably damaging |
Het |
| Adgrf1 |
G |
A |
17: 43,601,896 (GRCm39) |
|
probably benign |
Het |
| Adss2 |
T |
G |
1: 177,623,954 (GRCm39) |
I3L |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,576,280 (GRCm39) |
D302E |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,789,306 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
T |
G |
9: 111,896,336 (GRCm39) |
M687L |
probably benign |
Het |
| Camkv |
T |
C |
9: 107,824,088 (GRCm39) |
S221P |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,413,409 (GRCm39) |
T649M |
possibly damaging |
Het |
| Chsy1 |
C |
T |
7: 65,759,824 (GRCm39) |
Q56* |
probably null |
Het |
| Cisd2 |
A |
G |
3: 135,114,596 (GRCm39) |
V125A |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,084,903 (GRCm39) |
H1121Q |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,296 (GRCm39) |
C876S |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,300,287 (GRCm39) |
V3198A |
unknown |
Het |
| Cspp1 |
T |
G |
1: 10,204,351 (GRCm39) |
L1038R |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,416,234 (GRCm39) |
K147E |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,873,614 (GRCm39) |
D739G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,276,473 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,472,824 (GRCm39) |
I317T |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,494,101 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,784,670 (GRCm39) |
Y730H |
probably damaging |
Het |
| Dusp3 |
A |
G |
11: 101,875,451 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,843,277 (GRCm39) |
I151N |
probably damaging |
Het |
| Eml2 |
A |
T |
7: 18,913,188 (GRCm39) |
D62V |
possibly damaging |
Het |
| Epb41l3 |
C |
A |
17: 69,593,795 (GRCm39) |
H810N |
probably damaging |
Het |
| Evc2 |
C |
T |
5: 37,535,554 (GRCm39) |
R410W |
probably damaging |
Het |
| Fam169b |
T |
C |
7: 67,950,586 (GRCm39) |
Y13H |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,353,698 (GRCm39) |
T348A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,344,803 (GRCm38) |
V128E |
possibly damaging |
Het |
| Ighv3-5 |
A |
G |
12: 114,226,573 (GRCm39) |
S18P |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 22,031,795 (GRCm39) |
H4L |
unknown |
Het |
| Kdm5d |
C |
T |
Y: 927,995 (GRCm39) |
P756S |
probably benign |
Het |
| Lig1 |
AG |
A |
7: 13,039,849 (GRCm39) |
|
probably null |
Het |
| Ly75 |
A |
T |
2: 60,142,115 (GRCm39) |
L1332M |
possibly damaging |
Het |
| Med1 |
T |
A |
11: 98,054,789 (GRCm39) |
K378N |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,752 (GRCm39) |
|
probably null |
Het |
| Mpo |
T |
C |
11: 87,694,437 (GRCm39) |
|
probably null |
Het |
| Mtfr2 |
G |
T |
10: 20,228,598 (GRCm39) |
C48F |
probably benign |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
T |
C |
18: 37,818,649 (GRCm39) |
V66A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,614 (GRCm39) |
S534P |
probably benign |
Het |
| Pla2g4e |
A |
T |
2: 120,016,876 (GRCm39) |
C222S |
probably benign |
Het |
| Plch1 |
A |
C |
3: 63,605,499 (GRCm39) |
H1468Q |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,140,556 (GRCm39) |
W610R |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,198 (GRCm39) |
K548N |
probably damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,583,160 (GRCm39) |
M669T |
probably benign |
Het |
| Ptprf |
G |
T |
4: 118,083,238 (GRCm39) |
T923K |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,213,665 (GRCm38) |
N1011S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,666,053 (GRCm39) |
V986I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,993,725 (GRCm39) |
T596A |
probably benign |
Het |
| Serpina3j |
A |
G |
12: 104,280,986 (GRCm39) |
D53G |
probably damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,546,447 (GRCm39) |
I294N |
probably damaging |
Het |
| Slirp |
T |
C |
12: 87,496,192 (GRCm39) |
S96P |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,817,513 (GRCm39) |
E128G |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,680,031 (GRCm39) |
|
probably null |
Het |
| Stap1 |
A |
G |
5: 86,238,787 (GRCm39) |
T152A |
possibly damaging |
Het |
| Susd5 |
G |
A |
9: 113,911,653 (GRCm39) |
G188R |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,744 (GRCm39) |
Y125* |
probably null |
Het |
| Tnrc18 |
G |
A |
5: 142,725,911 (GRCm39) |
R1793C |
unknown |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,632 (GRCm39) |
D143E |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,255 (GRCm39) |
Y296* |
probably null |
Het |
| Vmn2r71 |
C |
T |
7: 85,267,750 (GRCm39) |
T68I |
possibly damaging |
Het |
| Zc3h6 |
A |
T |
2: 128,844,076 (GRCm39) |
I207F |
possibly damaging |
Het |
| Zfp518a |
T |
C |
19: 40,901,954 (GRCm39) |
S628P |
probably benign |
Het |
| Zfp85 |
T |
C |
13: 67,897,577 (GRCm39) |
Y165C |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,803,462 (GRCm39) |
N541D |
possibly 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 |
|
|
R3780:Cdh12
|
UTSW |
15 |
21,586,063 (GRCm39) |
splice site |
probably null |
|
|
R4750:Cdh12
|
UTSW |
15 |
21,583,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
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'- AACCCGAAGAAATGGCTATAGC -3'
(R):5'- GACAAGGGGTTGCTTTACTCTC -3'
Sequencing Primer
(F):5'- GCAGTTATCCTGTCCAGA -3'
(R):5'- GGAGAAGATGGCCAATGTAT -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation