Incidental Mutation 'R4686:Cdhr4'
| ID |
353682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr4
|
| Ensembl Gene |
ENSMUSG00000032595 |
| Gene Name |
cadherin-related family member 4 |
| Synonyms |
D330022A01Rik, 1700021K14Rik, Cdh29 |
| MMRRC Submission |
041937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4686 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107869696-107876883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107872883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 311
(W311R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175759]
[ENSMUST00000177173]
[ENSMUST00000177368]
[ENSMUST00000176373]
[ENSMUST00000176356]
[ENSMUST00000177508]
[ENSMUST00000176306]
|
| 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: ENSMUST00000175891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177173
AA Change: W311R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: W311R
| 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: ENSMUST00000176919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176356
|
| 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: ENSMUST00000176306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176459
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177516
|
| Meta Mutation Damage Score |
0.0785 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,983,837 (GRCm39) |
N411S |
probably damaging |
Het |
| Adnp |
A |
C |
2: 168,024,309 (GRCm39) |
C995W |
possibly damaging |
Het |
| Akap6 |
CA |
C |
12: 52,934,406 (GRCm39) |
|
probably null |
Het |
| Ano2 |
T |
G |
6: 125,767,254 (GRCm39) |
I228M |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,033 (GRCm39) |
D830G |
probably damaging |
Het |
| Atp13a2 |
G |
A |
4: 140,730,587 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
C |
T |
12: 72,159,052 (GRCm39) |
S629N |
probably damaging |
Het |
| Chaf1b |
A |
G |
16: 93,681,472 (GRCm39) |
H30R |
probably benign |
Het |
| Clnk |
G |
A |
5: 38,899,180 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,820,971 (GRCm39) |
S773P |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,774,080 (GRCm39) |
D198G |
probably damaging |
Het |
| Ears2 |
A |
G |
7: 121,647,427 (GRCm39) |
S286P |
probably damaging |
Het |
| Efcab7 |
A |
G |
4: 99,735,318 (GRCm39) |
E114G |
probably benign |
Het |
| Fanca |
G |
C |
8: 123,995,673 (GRCm39) |
|
probably benign |
Het |
| Flt3 |
A |
G |
5: 147,313,858 (GRCm39) |
L64P |
probably damaging |
Het |
| Gabrb1 |
A |
G |
5: 71,857,365 (GRCm39) |
T3A |
possibly damaging |
Het |
| Gm10384 |
T |
C |
15: 36,871,897 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
G |
A |
8: 32,229,284 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr141 |
T |
A |
13: 19,935,951 (GRCm39) |
I275F |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,522,112 (GRCm39) |
E736V |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,929,260 (GRCm39) |
E279G |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,309,326 (GRCm39) |
T522M |
probably benign |
Het |
| Hspa12a |
T |
A |
19: 58,788,181 (GRCm39) |
E547V |
possibly damaging |
Het |
| Il10ra |
A |
G |
9: 45,180,357 (GRCm39) |
L5S |
probably damaging |
Het |
| Iqcf6 |
G |
T |
9: 106,504,543 (GRCm39) |
W69L |
probably damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,858,117 (GRCm39) |
N379S |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,131,273 (GRCm39) |
I1977T |
probably damaging |
Het |
| Kcnq1 |
A |
T |
7: 142,661,466 (GRCm39) |
Y124F |
probably benign |
Het |
| Lamp5 |
C |
T |
2: 135,900,923 (GRCm39) |
T41M |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,294,648 (GRCm39) |
|
probably benign |
Het |
| Mlec |
A |
G |
5: 115,288,355 (GRCm39) |
I167T |
possibly damaging |
Het |
| Myf6 |
A |
G |
10: 107,329,689 (GRCm39) |
V198A |
probably benign |
Het |
| Nceh1 |
C |
T |
3: 27,295,818 (GRCm39) |
R360C |
probably damaging |
Het |
| Nos2 |
C |
A |
11: 78,819,456 (GRCm39) |
T56N |
possibly damaging |
Het |
| Npw |
T |
G |
17: 24,876,386 (GRCm39) |
H175P |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,477,421 (GRCm39) |
I899F |
probably damaging |
Het |
| Ociad1 |
A |
G |
5: 73,464,078 (GRCm39) |
T179A |
possibly damaging |
Het |
| Or1e19 |
A |
G |
11: 73,316,264 (GRCm39) |
S182P |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,356 (GRCm39) |
Y134C |
probably damaging |
Het |
| Or8b48 |
T |
A |
9: 38,493,327 (GRCm39) |
F251L |
probably damaging |
Het |
| Pacsin2 |
T |
C |
15: 83,265,976 (GRCm39) |
N74D |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,511 (GRCm39) |
I1196V |
probably benign |
Het |
| Pdxk |
A |
T |
10: 78,282,837 (GRCm39) |
|
probably null |
Het |
| Phb2 |
G |
A |
6: 124,690,105 (GRCm39) |
|
probably null |
Het |
| Pus7l |
T |
A |
15: 94,438,092 (GRCm39) |
N251I |
probably damaging |
Het |
| Rgs7bp |
T |
A |
13: 105,100,597 (GRCm39) |
N226I |
probably damaging |
Het |
| Runx2 |
T |
A |
17: 44,950,572 (GRCm39) |
D327V |
probably damaging |
Het |
| Srp68 |
A |
T |
11: 116,156,227 (GRCm39) |
C172S |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,551,142 (GRCm39) |
|
probably null |
Het |
| Tbrg4 |
C |
T |
11: 6,568,468 (GRCm39) |
R437Q |
probably benign |
Het |
| Tedc2 |
C |
T |
17: 24,436,862 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
A |
1: 153,768,196 (GRCm39) |
I220N |
probably damaging |
Het |
| Thoc1 |
G |
T |
18: 9,970,312 (GRCm39) |
E221* |
probably null |
Het |
| Tmem132d |
G |
T |
5: 127,869,674 (GRCm39) |
D553E |
possibly damaging |
Het |
| Topors |
A |
T |
4: 40,261,694 (GRCm39) |
V530D |
probably benign |
Het |
| Tpx2 |
T |
C |
2: 152,731,103 (GRCm39) |
V515A |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,885,240 (GRCm39) |
H191R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,567,914 (GRCm39) |
R27660W |
probably damaging |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,528 (GRCm39) |
L103P |
probably damaging |
Het |
| Vmn1r233 |
C |
T |
17: 21,214,368 (GRCm39) |
S194N |
probably benign |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,636 (GRCm39) |
K296E |
probably damaging |
Het |
| Vmn2r88 |
G |
A |
14: 51,650,796 (GRCm39) |
E170K |
probably benign |
Het |
| Zfp740 |
C |
T |
15: 102,117,184 (GRCm39) |
|
probably benign |
Het |
| Zmym5 |
A |
G |
14: 57,049,618 (GRCm39) |
|
probably benign |
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 |
|
R4515:Cdhr4
|
UTSW |
9 |
107,870,150 (GRCm39) |
missense |
probably benign |
0.31 |
|
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'- TTGAGAGCCCTGATCCTAGAGG -3'
(R):5'- TTGAGTCCTGGAAGTAGAGGGC -3'
Sequencing Primer
(F):5'- GCAGGAATGGCCAGGATC -3'
(R):5'- TCCTGGAAGTAGAGGGCAAGTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation