Incidental Mutation 'R8146:Cdh4'
| ID |
632797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh4
|
| Ensembl Gene |
ENSMUSG00000000305 |
| Gene Name |
cadherin 4 |
| Synonyms |
R-Cadh, Rcad, R-cadherin |
| MMRRC Submission |
067574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
179442431-179899373 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 179874078 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 350
(Q350K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000314]
|
| AlphaFold |
P39038 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000314
AA Change: Q350K
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: Q350K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Cadherin_pro
|
30 |
121 |
1.18e-30 |
SMART |
|
CA
|
187 |
272 |
2.31e-15 |
SMART |
|
CA
|
296 |
387 |
4.33e-29 |
SMART |
|
CA
|
410 |
503 |
2.21e-12 |
SMART |
|
CA
|
526 |
610 |
7.16e-21 |
SMART |
|
CA
|
630 |
715 |
3.78e-2 |
SMART |
|
transmembrane domain
|
730 |
752 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
760 |
909 |
2.5e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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. The encoded protein is involved in retinal angiogenesis during development where it plays a crucial role in the endothelial-astrocyte interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,494,003 (GRCm38) |
E393A |
possibly damaging |
Het |
| 4930550C14Rik |
A |
G |
9: 53,422,970 (GRCm38) |
D171G |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,397,829 (GRCm38) |
Y3561H |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,114,174 (GRCm38) |
V464D |
probably damaging |
Het |
| Adgrl1 |
C |
A |
8: 83,930,989 (GRCm38) |
T408N |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 90,307,698 (GRCm38) |
R523Q |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,043,605 (GRCm38) |
A375S |
unknown |
Het |
| Bbs10 |
T |
A |
10: 111,300,535 (GRCm38) |
I503K |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,818,796 (GRCm38) |
I598T |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,164,874 (GRCm38) |
D339E |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,956,363 (GRCm38) |
L617P |
probably damaging |
Het |
| Cnbd2 |
T |
G |
2: 156,328,361 (GRCm38) |
V122G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,007 (GRCm38) |
N158K |
possibly damaging |
Het |
| Cul1 |
T |
C |
6: 47,495,093 (GRCm38) |
V56A |
possibly damaging |
Het |
| Dopey2 |
T |
A |
16: 93,749,939 (GRCm38) |
I277N |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,192,665 (GRCm38) |
D340G |
probably benign |
Het |
| Exoc6b |
A |
C |
6: 84,908,194 (GRCm38) |
D254E |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,902,492 (GRCm38) |
K268E |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,030,978 (GRCm38) |
N157I |
probably benign |
Het |
| Hacd1 |
T |
A |
2: 14,044,794 (GRCm38) |
S118C |
probably damaging |
Het |
| Hcn4 |
A |
C |
9: 58,823,744 (GRCm38) |
E78A |
unknown |
Het |
| Inpp5e |
T |
A |
2: 26,399,262 (GRCm38) |
T549S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,755,279 (GRCm38) |
N281S |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,625,126 (GRCm38) |
D1280G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,359,879 (GRCm38) |
V307A |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,366,378 (GRCm38) |
L100P |
probably damaging |
Het |
| Med24 |
C |
T |
11: 98,718,114 (GRCm38) |
G119R |
probably benign |
Het |
| Mvp |
G |
T |
7: 126,986,999 (GRCm38) |
P866Q |
probably benign |
Het |
| Olfr630 |
A |
G |
7: 103,755,303 (GRCm38) |
I94T |
probably damaging |
Het |
| Phykpl |
T |
C |
11: 51,585,581 (GRCm38) |
Y43H |
probably damaging |
Het |
| Prag1 |
T |
G |
8: 36,104,210 (GRCm38) |
L649R |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,940,997 (GRCm38) |
F293L |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,630,280 (GRCm38) |
S316A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,147,232 (GRCm38) |
S1627L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,590,711 (GRCm38) |
R1565G |
probably benign |
Het |
| Sart3 |
G |
A |
5: 113,747,957 (GRCm38) |
T572M |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,995,924 (GRCm38) |
S816* |
probably null |
Het |
| Slamf1 |
C |
T |
1: 171,792,319 (GRCm38) |
P279L |
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,042,749 (GRCm38) |
V368F |
possibly damaging |
Het |
| Tap1 |
A |
T |
17: 34,189,232 (GRCm38) |
D194V |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 99,037,615 (GRCm38) |
Y319C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,070,157 (GRCm38) |
I579N |
probably damaging |
Het |
| Zbtb22 |
G |
T |
17: 33,916,982 (GRCm38) |
V34L |
probably damaging |
Het |
|
| Other mutations in Cdh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Cdh4
|
APN |
2 |
179,874,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01411:Cdh4
|
APN |
2 |
179,780,403 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01752:Cdh4
|
APN |
2 |
179,890,884 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02814:Cdh4
|
APN |
2 |
179,780,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0082:Cdh4
|
UTSW |
2 |
179,894,188 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0357:Cdh4
|
UTSW |
2 |
179,847,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1521:Cdh4
|
UTSW |
2 |
179,797,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1591:Cdh4
|
UTSW |
2 |
179,886,864 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1622:Cdh4
|
UTSW |
2 |
179,889,092 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1762:Cdh4
|
UTSW |
2 |
179,797,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1794:Cdh4
|
UTSW |
2 |
179,886,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2275:Cdh4
|
UTSW |
2 |
179,890,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2277:Cdh4
|
UTSW |
2 |
179,797,524 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3686:Cdh4
|
UTSW |
2 |
179,780,367 (GRCm38) |
missense |
probably benign |
0.09 |
|
R3861:Cdh4
|
UTSW |
2 |
179,874,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4078:Cdh4
|
UTSW |
2 |
179,889,173 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4495:Cdh4
|
UTSW |
2 |
179,780,389 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4715:Cdh4
|
UTSW |
2 |
179,780,467 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4893:Cdh4
|
UTSW |
2 |
179,847,419 (GRCm38) |
intron |
probably benign |
|
|
R5029:Cdh4
|
UTSW |
2 |
179,881,949 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5363:Cdh4
|
UTSW |
2 |
179,886,763 (GRCm38) |
missense |
probably benign |
|
|
R5542:Cdh4
|
UTSW |
2 |
179,860,226 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5773:Cdh4
|
UTSW |
2 |
179,885,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5791:Cdh4
|
UTSW |
2 |
179,895,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6262:Cdh4
|
UTSW |
2 |
179,797,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6338:Cdh4
|
UTSW |
2 |
179,890,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6589:Cdh4
|
UTSW |
2 |
179,881,996 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6607:Cdh4
|
UTSW |
2 |
179,874,096 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6653:Cdh4
|
UTSW |
2 |
179,780,428 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6711:Cdh4
|
UTSW |
2 |
179,890,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6744:Cdh4
|
UTSW |
2 |
179,847,387 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6824:Cdh4
|
UTSW |
2 |
179,797,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6901:Cdh4
|
UTSW |
2 |
179,860,194 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6981:Cdh4
|
UTSW |
2 |
179,797,504 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7285:Cdh4
|
UTSW |
2 |
179,797,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7514:Cdh4
|
UTSW |
2 |
179,890,843 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7541:Cdh4
|
UTSW |
2 |
179,444,810 (GRCm38) |
splice site |
probably null |
|
|
R7560:Cdh4
|
UTSW |
2 |
179,890,902 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8833:Cdh4
|
UTSW |
2 |
179,894,035 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9075:Cdh4
|
UTSW |
2 |
179,860,147 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9203:Cdh4
|
UTSW |
2 |
179,780,403 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Cdh4
|
UTSW |
2 |
179,780,326 (GRCm38) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATGCACCCACTGAAAGC -3'
(R):5'- TCTTCTCCCCACTGAGAGAG -3'
Sequencing Primer
(F):5'- TGCACCCACTGAAAGCTGATG -3'
(R):5'- TGTGAATTACAGCTCAGGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation