Incidental Mutation 'R4515:Cdhr4'
| ID |
332862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr4
|
| Ensembl Gene |
ENSMUSG00000032595 |
| Gene Name |
cadherin-related family member 4 |
| Synonyms |
D330022A01Rik, 1700021K14Rik, Cdh29 |
| MMRRC Submission |
041589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4515 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107869696-107876883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107870150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 52
(E52K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175759]
[ENSMUST00000177173]
[ENSMUST00000176306]
[ENSMUST00000177508]
[ENSMUST00000177368]
[ENSMUST00000176373]
|
| AlphaFold |
H3BJZ2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000035215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175759
|
| SMART Domains |
Protein: ENSMUSP00000135743
Gene: ENSMUSG00000032595
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
3 |
104 |
4e-44 |
BLAST |
|
SCOP:d1l3wa3
|
59 |
104 |
4e-7 |
SMART |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175802
|
| SMART Domains |
Protein: ENSMUSP00000135003
Gene: ENSMUSG00000032595
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
33 |
116 |
5.4e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177173
AA Change: E52K
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: E52K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
Blast:CA
|
149 |
224 |
2e-9 |
BLAST |
|
Blast:CA
|
252 |
330 |
3e-33 |
BLAST |
|
CA
|
354 |
437 |
2.24e-1 |
SMART |
|
CA
|
459 |
542 |
5.86e-17 |
SMART |
|
Blast:CA
|
566 |
649 |
3e-40 |
BLAST |
|
transmembrane domain
|
680 |
702 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177508
|
| SMART Domains |
Protein: ENSMUSP00000135332
Gene: ENSMUSG00000032595
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
1 |
29 |
4e-7 |
BLAST |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177368
|
| SMART Domains |
Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBA_e1_C
|
1 |
39 |
1e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176373
|
| SMART Domains |
Protein: ENSMUSP00000134896
Gene: ENSMUSG00000032595
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1143 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,646,006 (GRCm39) |
K630N |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,398,283 (GRCm39) |
L335I |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,641,023 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Bsn |
G |
T |
9: 107,981,277 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,747,532 (GRCm39) |
N500Y |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,240,703 (GRCm39) |
R1579S |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,875,118 (GRCm39) |
L39P |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,154,209 (GRCm39) |
K319E |
probably damaging |
Het |
| Cnot6 |
C |
T |
11: 49,593,363 (GRCm39) |
|
probably null |
Het |
| Copg1 |
A |
G |
6: 87,884,528 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,356,457 (GRCm39) |
S2135P |
possibly damaging |
Het |
| Dsg2 |
C |
A |
18: 20,734,444 (GRCm39) |
D807E |
probably benign |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Hemgn |
T |
C |
4: 46,396,477 (GRCm39) |
E253G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,696,537 (GRCm39) |
V47M |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,208,257 (GRCm39) |
V947A |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,318,935 (GRCm39) |
H133R |
probably benign |
Het |
| Lce1l |
T |
C |
3: 92,757,781 (GRCm39) |
T26A |
unknown |
Het |
| Macf1 |
T |
C |
4: 123,387,781 (GRCm39) |
E1172G |
probably damaging |
Het |
| Nkx3-2 |
C |
T |
5: 41,921,281 (GRCm39) |
V3M |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,454,187 (GRCm39) |
T49I |
probably benign |
Het |
| Oc90 |
A |
G |
15: 65,764,242 (GRCm39) |
L138P |
probably damaging |
Het |
| Or7g12 |
T |
G |
9: 18,899,278 (GRCm39) |
|
probably null |
Het |
| Or8g34 |
C |
T |
9: 39,373,527 (GRCm39) |
R264* |
probably null |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Paqr3 |
T |
A |
5: 97,251,220 (GRCm39) |
N168I |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,224,432 (GRCm39) |
I415N |
probably damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,207 (GRCm39) |
N75S |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,749,612 (GRCm39) |
T402A |
possibly damaging |
Het |
| Ptger4 |
C |
A |
15: 5,271,860 (GRCm39) |
R253L |
probably damaging |
Het |
| Rabac1 |
A |
T |
7: 24,669,585 (GRCm39) |
Y173* |
probably null |
Het |
| Rapsn |
G |
A |
2: 90,873,557 (GRCm39) |
V288M |
possibly damaging |
Het |
| Rnf26rt |
C |
T |
6: 76,473,792 (GRCm39) |
V275I |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,513,817 (GRCm39) |
S993P |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,458,883 (GRCm39) |
H419R |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,967,553 (GRCm39) |
M281L |
probably benign |
Het |
| Serpine1 |
G |
A |
5: 137,098,322 (GRCm39) |
A117V |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,120,764 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,330,489 (GRCm39) |
|
probably null |
Het |
| Stk11 |
A |
G |
10: 79,952,435 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,566,930 (GRCm39) |
Y720H |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,568,055 (GRCm39) |
R224K |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,754,244 (GRCm39) |
S988N |
probably benign |
Het |
| Txn2 |
A |
T |
15: 77,799,643 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,919 (GRCm39) |
V239E |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
probably damaging |
Het |
|
| Other mutations in Cdhr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Cdhr4
|
APN |
9 |
107,876,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01105:Cdhr4
|
APN |
9 |
107,873,060 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02097:Cdhr4
|
APN |
9 |
107,870,199 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02441:Cdhr4
|
APN |
9 |
107,870,466 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02635:Cdhr4
|
APN |
9 |
107,870,070 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02870:Cdhr4
|
APN |
9 |
107,875,263 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03160:Cdhr4
|
APN |
9 |
107,873,068 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03162:Cdhr4
|
APN |
9 |
107,875,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03250:Cdhr4
|
APN |
9 |
107,873,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Cdhr4
|
UTSW |
9 |
107,874,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0233:Cdhr4
|
UTSW |
9 |
107,874,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1241:Cdhr4
|
UTSW |
9 |
107,872,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1250:Cdhr4
|
UTSW |
9 |
107,874,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Cdhr4
|
UTSW |
9 |
107,875,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Cdhr4
|
UTSW |
9 |
107,873,460 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2106:Cdhr4
|
UTSW |
9 |
107,874,693 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2108:Cdhr4
|
UTSW |
9 |
107,874,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Cdhr4
|
UTSW |
9 |
107,870,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2312:Cdhr4
|
UTSW |
9 |
107,872,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4106:Cdhr4
|
UTSW |
9 |
107,873,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Cdhr4
|
UTSW |
9 |
107,872,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Cdhr4
|
UTSW |
9 |
107,875,898 (GRCm39) |
splice site |
probably benign |
|
|
R5165:Cdhr4
|
UTSW |
9 |
107,874,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Cdhr4
|
UTSW |
9 |
107,872,790 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5574:Cdhr4
|
UTSW |
9 |
107,870,527 (GRCm39) |
unclassified |
probably benign |
|
|
R7387:Cdhr4
|
UTSW |
9 |
107,874,111 (GRCm39) |
nonsense |
probably null |
|
|
R7609:Cdhr4
|
UTSW |
9 |
107,874,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7663:Cdhr4
|
UTSW |
9 |
107,875,971 (GRCm39) |
nonsense |
probably null |
|
|
R8141:Cdhr4
|
UTSW |
9 |
107,873,991 (GRCm39) |
missense |
|
|
|
R8483:Cdhr4
|
UTSW |
9 |
107,872,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Cdhr4
|
UTSW |
9 |
107,873,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Cdhr4
|
UTSW |
9 |
107,874,596 (GRCm39) |
missense |
|
|
|
R8816:Cdhr4
|
UTSW |
9 |
107,872,791 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9392:Cdhr4
|
UTSW |
9 |
107,873,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGAAGGACTTTGGCTG -3'
(R):5'- GCAGAGCTACTCAAGGACAC -3'
Sequencing Primer
(F):5'- CTGCTTGGCCTCCAGATGTG -3'
(R):5'- GAGCTACTCAAGGACACCTGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation