Incidental Mutation 'R5478:Cdhr4'
ID |
434168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr4
|
Ensembl Gene |
ENSMUSG00000032595 |
Gene Name |
cadherin-related family member 4 |
Synonyms |
D330022A01Rik, 1700021K14Rik, Cdh29 |
MMRRC Submission |
043039-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
R5478 (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 107872790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 280
(V280I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175759]
[ENSMUST00000177173]
[ENSMUST00000177368]
[ENSMUST00000177508]
[ENSMUST00000176356]
[ENSMUST00000176306]
[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: ENSMUST00000175891
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176183
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177173
AA Change: V280I
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135184 Gene: ENSMUSG00000032595 AA Change: V280I
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: ENSMUST00000177226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177093
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176454
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176919
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176196
|
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: 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: ENSMUST00000176356
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176306
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176334
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176459
|
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 |
noncoding transcript
Transcript: ENSMUST00000177516
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
Apba2 |
T |
A |
7: 64,344,934 (GRCm39) |
Y41* |
probably null |
Het |
BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
Capn3 |
A |
G |
2: 120,294,666 (GRCm39) |
|
probably null |
Het |
Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
Chl1 |
A |
T |
6: 103,660,182 (GRCm39) |
E353D |
probably damaging |
Het |
Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,478,795 (GRCm39) |
N472K |
possibly damaging |
Het |
Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
Sos1 |
T |
C |
17: 80,741,276 (GRCm39) |
D503G |
probably damaging |
Het |
Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,966,050 (GRCm39) |
V536A |
probably damaging |
Het |
Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
Zfp319 |
A |
G |
8: 96,052,193 (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 |
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 |
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'- CGAAGATGTCCTTAACTGGGAAAGG -3'
(R):5'- GATTTCACCTCAACCAGCCG -3'
Sequencing Primer
(F):5'- TCCTTAACTGGGAAAGGGCGAG -3'
(R):5'- TTCCGGGTACTCACACCAGTAG -3'
|
Posted On |
2016-10-06 |