Incidental Mutation 'R2171:Cdhr4'
| ID |
237495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr4
|
| Ensembl Gene |
ENSMUSG00000032595 |
| Gene Name |
cadherin-related family member 4 |
| Synonyms |
D330022A01Rik, 1700021K14Rik, Cdh29 |
| MMRRC Submission |
040173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R2171 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107869696-107876883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107870117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 41
(S41P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000175759]
[ENSMUST00000177173]
[ENSMUST00000177508]
[ENSMUST00000177368]
[ENSMUST00000176373]
[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: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177173
AA Change: S41P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000135184
Gene: ENSMUSG00000032595
AA Change: S41P
| 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: ENSMUST00000176454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176919
|
| 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: 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: ENSMUST00000176306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176334
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
A |
G |
13: 23,606,387 (GRCm39) |
L189P |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,660,362 (GRCm39) |
S377* |
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
| Arv1 |
T |
G |
8: 125,455,094 (GRCm39) |
C102W |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,896,419 (GRCm39) |
H207R |
probably benign |
Het |
| Bach2 |
T |
C |
4: 32,501,662 (GRCm39) |
V13A |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,320,843 (GRCm39) |
S206P |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,752,424 (GRCm39) |
Y307C |
probably damaging |
Het |
| Clec4f |
A |
T |
6: 83,629,846 (GRCm39) |
S237R |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,116,132 (GRCm39) |
D538G |
possibly damaging |
Het |
| Col9a2 |
T |
A |
4: 120,902,198 (GRCm39) |
C173* |
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,646,117 (GRCm39) |
M703K |
possibly damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,729,057 (GRCm39) |
Y83C |
probably damaging |
Het |
| Eef1akmt3 |
A |
C |
10: 126,868,843 (GRCm39) |
D210E |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,971,466 (GRCm39) |
F717L |
probably benign |
Het |
| Gtf3a |
A |
G |
5: 146,892,272 (GRCm39) |
N341S |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,113,245 (GRCm39) |
V6A |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,650,358 (GRCm39) |
Y135N |
probably damaging |
Het |
| Krt73 |
T |
C |
15: 101,709,345 (GRCm39) |
Q154R |
possibly damaging |
Het |
| Lce1a1 |
C |
T |
3: 92,554,048 (GRCm39) |
C142Y |
unknown |
Het |
| Lcorl |
A |
T |
5: 45,904,493 (GRCm39) |
I112N |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,598,312 (GRCm39) |
H916Y |
probably damaging |
Het |
| Lypla2 |
T |
C |
4: 135,697,915 (GRCm39) |
|
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,357 (GRCm39) |
D375E |
probably damaging |
Het |
| Nlrp14 |
T |
G |
7: 106,781,709 (GRCm39) |
L302R |
probably damaging |
Het |
| Npy2r |
T |
G |
3: 82,447,708 (GRCm39) |
T243P |
possibly damaging |
Het |
| Or11h4 |
A |
T |
14: 50,973,876 (GRCm39) |
S248T |
probably benign |
Het |
| Or51k2 |
T |
C |
7: 103,595,992 (GRCm39) |
V73A |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,442,931 (GRCm39) |
H307L |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 31,005,078 (GRCm39) |
T172A |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,801,012 (GRCm39) |
Q386* |
probably null |
Het |
| Pira2 |
T |
C |
7: 3,847,417 (GRCm39) |
S91G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,482,925 (GRCm39) |
N1539K |
probably damaging |
Het |
| Poc5 |
C |
T |
13: 96,547,257 (GRCm39) |
H507Y |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,707,925 (GRCm39) |
|
probably benign |
Het |
| Pthlh |
T |
G |
6: 147,158,694 (GRCm39) |
K89Q |
probably damaging |
Het |
| Rims4 |
A |
T |
2: 163,706,046 (GRCm39) |
|
probably null |
Het |
| Rnf138 |
A |
G |
18: 21,159,143 (GRCm39) |
N188D |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,822 (GRCm39) |
D727G |
probably benign |
Het |
| Sc5d |
T |
G |
9: 42,166,682 (GRCm39) |
K286Q |
probably benign |
Het |
| Slc10a5 |
C |
T |
3: 10,400,342 (GRCm39) |
G106D |
possibly damaging |
Het |
| Smg6 |
A |
T |
11: 74,929,472 (GRCm39) |
Q967L |
probably damaging |
Het |
| Spty2d1 |
C |
T |
7: 46,644,361 (GRCm39) |
R636H |
probably damaging |
Het |
| Srms |
A |
T |
2: 180,850,573 (GRCm39) |
Y195* |
probably null |
Het |
| Susd4 |
A |
G |
1: 182,719,759 (GRCm39) |
D458G |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,270,220 (GRCm39) |
R1363G |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,953,060 (GRCm39) |
G890D |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,996,606 (GRCm39) |
V317A |
probably benign |
Het |
| Ttpa |
T |
C |
4: 20,021,357 (GRCm39) |
V175A |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,887,343 (GRCm39) |
D3251Y |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,248,810 (GRCm39) |
D441G |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,819,096 (GRCm39) |
Y298* |
probably null |
Het |
| Zfp804a |
G |
A |
2: 82,087,527 (GRCm39) |
C452Y |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,461 (GRCm39) |
K698E |
possibly 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 |
|
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 |
|
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'- TCCAGTGTCACCTGTAGGAG -3'
(R):5'- CTGTGGTGGATCGACAAAAGAC -3'
Sequencing Primer
(F):5'- GACAAGGAAGGACTTTGGCTGC -3'
(R):5'- AGGGCCTAGGCTTTCTGTCTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation