Incidental Mutation 'R1490:Cdh16'
| ID |
163654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh16
|
| Ensembl Gene |
ENSMUSG00000031881 |
| Gene Name |
cadherin 16 |
| Synonyms |
KSP-cadherin |
| MMRRC Submission |
039542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105328547-105351028 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105348702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 109
(W109R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163783]
[ENSMUST00000211903]
[ENSMUST00000212324]
[ENSMUST00000212420]
[ENSMUST00000212447]
[ENSMUST00000212662]
[ENSMUST00000212882]
[ENSMUST00000213033]
[ENSMUST00000212748]
|
| AlphaFold |
O88338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163783
AA Change: W79R
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: W79R
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
126 |
2.42e-9 |
SMART |
|
CA
|
150 |
243 |
3.93e-9 |
SMART |
|
CA
|
260 |
336 |
5.52e-13 |
SMART |
|
CA
|
360 |
449 |
1.33e-15 |
SMART |
|
CA
|
474 |
563 |
3.35e-1 |
SMART |
|
CA
|
585 |
663 |
7.88e-1 |
SMART |
|
transmembrane domain
|
788 |
810 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211903
AA Change: W109R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212324
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212420
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212447
AA Change: W109R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212662
AA Change: W109R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212689
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212882
AA Change: W109R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212748
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,356,234 (GRCm39) |
T52I |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,114,952 (GRCm39) |
R633W |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,162,389 (GRCm39) |
N507S |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,991,193 (GRCm39) |
S1520P |
probably benign |
Het |
| Cacul1 |
G |
T |
19: 60,568,837 (GRCm39) |
A107E |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,438 (GRCm39) |
D216G |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,586,775 (GRCm39) |
V100I |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,897,071 (GRCm39) |
D679G |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,826,563 (GRCm39) |
D46G |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
| Dmrta2 |
T |
C |
4: 109,837,072 (GRCm39) |
S5P |
unknown |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,746 (GRCm39) |
Y426C |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,383,225 (GRCm39) |
S87G |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,473,888 (GRCm39) |
R232G |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,421,232 (GRCm39) |
V812D |
probably damaging |
Het |
| Gm10153 |
C |
T |
7: 141,743,879 (GRCm39) |
C83Y |
unknown |
Het |
| Gpd2 |
T |
C |
2: 57,245,487 (GRCm39) |
V394A |
probably damaging |
Het |
| Hpcal1 |
A |
T |
12: 17,836,225 (GRCm39) |
E18D |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,844,530 (GRCm39) |
D156G |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,753,595 (GRCm39) |
K510E |
probably benign |
Het |
| Ms4a19 |
A |
G |
19: 11,118,902 (GRCm39) |
I69T |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,503,051 (GRCm39) |
R1035Q |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,200,175 (GRCm39) |
K235* |
probably null |
Het |
| Nedd1 |
A |
G |
10: 92,536,660 (GRCm39) |
F214S |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,197 (GRCm39) |
V237A |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,733 (GRCm39) |
M274T |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,672 (GRCm39) |
M28T |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,700 (GRCm39) |
I137T |
possibly damaging |
Het |
| Pfkfb2 |
A |
C |
1: 130,625,626 (GRCm39) |
|
probably null |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,688 (GRCm39) |
L398P |
probably damaging |
Het |
| Pfn3 |
T |
G |
13: 55,562,732 (GRCm39) |
D83A |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,204,132 (GRCm39) |
W54L |
probably damaging |
Het |
| Ppp3r1 |
A |
G |
11: 17,148,275 (GRCm39) |
D161G |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,230 (GRCm39) |
S1757P |
probably benign |
Het |
| Samd7 |
A |
G |
3: 30,812,502 (GRCm39) |
E314G |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,088,736 (GRCm39) |
I217T |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,881,780 (GRCm39) |
|
probably null |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,104 (GRCm39) |
H905Q |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,029 (GRCm39) |
T314I |
possibly damaging |
Het |
| Tirap |
ACTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTG |
9: 35,100,362 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
C |
14: 50,600,633 (GRCm39) |
H873P |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,611 (GRCm39) |
T135S |
possibly damaging |
Het |
| Tmem116 |
T |
C |
5: 121,633,174 (GRCm39) |
S183P |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,550 (GRCm39) |
I572K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,092,038 (GRCm39) |
T523I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,916,687 (GRCm39) |
Q364* |
probably null |
Het |
| Vmn1r61 |
T |
C |
7: 5,614,242 (GRCm39) |
Q24R |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,874,495 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
G |
A |
13: 67,405,573 (GRCm39) |
P286S |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,091 (GRCm39) |
C373S |
probably benign |
Het |
| Zfp768 |
T |
A |
7: 126,942,803 (GRCm39) |
I442F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,263,853 (GRCm39) |
R284G |
probably benign |
Het |
|
| Other mutations in Cdh16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Cdh16
|
APN |
8 |
105,350,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01406:Cdh16
|
APN |
8 |
105,345,044 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01477:Cdh16
|
APN |
8 |
105,345,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01478:Cdh16
|
APN |
8 |
105,341,120 (GRCm39) |
splice site |
probably benign |
|
|
IGL01783:Cdh16
|
APN |
8 |
105,344,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Cdh16
|
APN |
8 |
105,344,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02390:Cdh16
|
APN |
8 |
105,348,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02646:Cdh16
|
APN |
8 |
105,348,737 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02938:Cdh16
|
APN |
8 |
105,343,561 (GRCm39) |
intron |
probably benign |
|
|
IGL02961:Cdh16
|
APN |
8 |
105,341,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03378:Cdh16
|
APN |
8 |
105,345,917 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT1430001:Cdh16
|
UTSW |
8 |
105,344,271 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0016:Cdh16
|
UTSW |
8 |
105,344,264 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1233:Cdh16
|
UTSW |
8 |
105,345,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1470:Cdh16
|
UTSW |
8 |
105,345,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1470:Cdh16
|
UTSW |
8 |
105,345,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1752:Cdh16
|
UTSW |
8 |
105,346,505 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1892:Cdh16
|
UTSW |
8 |
105,344,631 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1913:Cdh16
|
UTSW |
8 |
105,343,100 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1933:Cdh16
|
UTSW |
8 |
105,344,595 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1934:Cdh16
|
UTSW |
8 |
105,344,595 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2029:Cdh16
|
UTSW |
8 |
105,344,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Cdh16
|
UTSW |
8 |
105,348,597 (GRCm39) |
nonsense |
probably null |
|
|
R2337:Cdh16
|
UTSW |
8 |
105,348,902 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3848:Cdh16
|
UTSW |
8 |
105,344,473 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3850:Cdh16
|
UTSW |
8 |
105,344,473 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3892:Cdh16
|
UTSW |
8 |
105,342,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4167:Cdh16
|
UTSW |
8 |
105,344,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4577:Cdh16
|
UTSW |
8 |
105,345,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Cdh16
|
UTSW |
8 |
105,341,858 (GRCm39) |
splice site |
probably null |
|
|
R4726:Cdh16
|
UTSW |
8 |
105,342,664 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4843:Cdh16
|
UTSW |
8 |
105,348,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Cdh16
|
UTSW |
8 |
105,344,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Cdh16
|
UTSW |
8 |
105,343,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Cdh16
|
UTSW |
8 |
105,344,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6134:Cdh16
|
UTSW |
8 |
105,342,697 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6311:Cdh16
|
UTSW |
8 |
105,341,065 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6352:Cdh16
|
UTSW |
8 |
105,343,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6382:Cdh16
|
UTSW |
8 |
105,348,175 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6713:Cdh16
|
UTSW |
8 |
105,346,617 (GRCm39) |
nonsense |
probably null |
|
|
R6732:Cdh16
|
UTSW |
8 |
105,345,165 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6755:Cdh16
|
UTSW |
8 |
105,345,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Cdh16
|
UTSW |
8 |
105,348,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7037:Cdh16
|
UTSW |
8 |
105,344,267 (GRCm39) |
nonsense |
probably null |
|
|
R7202:Cdh16
|
UTSW |
8 |
105,340,780 (GRCm39) |
missense |
unknown |
|
|
R7413:Cdh16
|
UTSW |
8 |
105,346,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7460:Cdh16
|
UTSW |
8 |
105,348,923 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8017:Cdh16
|
UTSW |
8 |
105,342,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Cdh16
|
UTSW |
8 |
105,344,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Cdh16
|
UTSW |
8 |
105,341,811 (GRCm39) |
nonsense |
probably null |
|
|
R8278:Cdh16
|
UTSW |
8 |
105,345,107 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8421:Cdh16
|
UTSW |
8 |
105,348,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8491:Cdh16
|
UTSW |
8 |
105,343,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Cdh16
|
UTSW |
8 |
105,344,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8810:Cdh16
|
UTSW |
8 |
105,341,136 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9246:Cdh16
|
UTSW |
8 |
105,344,602 (GRCm39) |
missense |
probably benign |
|
|
R9267:Cdh16
|
UTSW |
8 |
105,341,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:Cdh16
|
UTSW |
8 |
105,345,612 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9689:Cdh16
|
UTSW |
8 |
105,341,108 (GRCm39) |
missense |
probably benign |
|
|
RF005:Cdh16
|
UTSW |
8 |
105,343,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Cdh16
|
UTSW |
8 |
105,343,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Cdh16
|
UTSW |
8 |
105,346,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cdh16
|
UTSW |
8 |
105,341,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdh16
|
UTSW |
8 |
105,350,072 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCTCAGAATGTGGAAGCG -3'
(R):5'- TGGCTTTCTAGTGGCGACAAGGAC -3'
Sequencing Primer
(F):5'- CATTACTGTATCAGGGTTCAGGAAG -3'
(R):5'- ACAAGGACCCTGGACCG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation