Incidental Mutation 'IGL02567:Cdhr3'
ID |
298866 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdhr3
|
Ensembl Gene |
ENSMUSG00000035860 |
Gene Name |
cadherin-related family member 3 |
Synonyms |
1110049B09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02567
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33088900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 761
(N761D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
AlphaFold |
Q8BL00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095774
AA Change: N761D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000093449 Gene: ENSMUSG00000035860 AA Change: N761D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
CA
|
36 |
131 |
5.54e-2 |
SMART |
CA
|
156 |
234 |
3.73e-10 |
SMART |
CA
|
258 |
343 |
5.47e-17 |
SMART |
CA
|
369 |
459 |
9.87e-1 |
SMART |
CA
|
483 |
564 |
1.17e-16 |
SMART |
CA
|
590 |
683 |
1.1e0 |
SMART |
transmembrane domain
|
708 |
730 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
C |
A |
11: 53,263,578 (GRCm39) |
S199R |
possibly damaging |
Het |
Ano1 |
A |
G |
7: 144,165,362 (GRCm39) |
L621P |
probably damaging |
Het |
Calcr |
C |
T |
6: 3,691,564 (GRCm39) |
V404M |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,736,339 (GRCm39) |
S635G |
possibly damaging |
Het |
Ccl12 |
C |
A |
11: 81,993,447 (GRCm39) |
S28R |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,208,357 (GRCm39) |
|
probably null |
Het |
Col28a1 |
T |
C |
6: 8,014,819 (GRCm39) |
K862R |
possibly damaging |
Het |
Cyp2c66 |
C |
T |
19: 39,175,084 (GRCm39) |
|
probably benign |
Het |
D5Ertd615e |
T |
C |
5: 45,320,758 (GRCm39) |
|
noncoding transcript |
Het |
Deup1 |
T |
C |
9: 15,486,579 (GRCm39) |
E367G |
probably damaging |
Het |
Dpp8 |
T |
G |
9: 64,986,058 (GRCm39) |
Y849* |
probably null |
Het |
Efhc1 |
T |
A |
1: 21,043,188 (GRCm39) |
V369E |
probably damaging |
Het |
Entrep2 |
T |
A |
7: 64,436,479 (GRCm39) |
M101L |
possibly damaging |
Het |
Epg5 |
A |
G |
18: 78,076,288 (GRCm39) |
Y2562C |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,728,059 (GRCm39) |
|
probably null |
Het |
Frem1 |
A |
T |
4: 82,918,292 (GRCm39) |
M551K |
probably damaging |
Het |
Gba2 |
T |
C |
4: 43,567,281 (GRCm39) |
S889G |
probably benign |
Het |
Golph3 |
C |
T |
15: 12,349,507 (GRCm39) |
R176* |
probably null |
Het |
Got2 |
A |
T |
8: 96,598,829 (GRCm39) |
F191Y |
probably benign |
Het |
Gtf2ird2 |
G |
T |
5: 134,241,890 (GRCm39) |
|
probably benign |
Het |
H4c16 |
G |
A |
6: 136,781,272 (GRCm39) |
R36W |
probably damaging |
Het |
Hivep3 |
A |
G |
4: 119,991,153 (GRCm39) |
T2218A |
probably damaging |
Het |
Htr1f |
C |
T |
16: 64,746,611 (GRCm39) |
G227D |
probably benign |
Het |
Ifi202b |
C |
T |
1: 173,791,370 (GRCm39) |
S436N |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,437,969 (GRCm39) |
V2109D |
probably damaging |
Het |
Opa1 |
C |
A |
16: 29,407,104 (GRCm39) |
D29E |
probably benign |
Het |
Papln |
C |
T |
12: 83,825,611 (GRCm39) |
P631S |
probably benign |
Het |
Pde4c |
T |
A |
8: 71,200,570 (GRCm39) |
M352K |
probably benign |
Het |
Pigu |
T |
C |
2: 155,173,112 (GRCm39) |
T129A |
possibly damaging |
Het |
Pla2g4c |
T |
A |
7: 13,079,965 (GRCm39) |
H424Q |
probably damaging |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Rbm5 |
T |
C |
9: 107,621,473 (GRCm39) |
D642G |
probably damaging |
Het |
Rnf111 |
T |
C |
9: 70,366,287 (GRCm39) |
T384A |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,633,555 (GRCm39) |
T393A |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,202,069 (GRCm39) |
K619M |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Syt9 |
A |
G |
7: 107,035,868 (GRCm39) |
Y295C |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,926,323 (GRCm39) |
Y306N |
probably damaging |
Het |
Tmem107 |
T |
G |
11: 68,961,845 (GRCm39) |
L25V |
possibly damaging |
Het |
Wdr24 |
T |
G |
17: 26,043,322 (GRCm39) |
I48S |
probably damaging |
Het |
Zc3hc1 |
T |
C |
6: 30,374,848 (GRCm39) |
D231G |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,617,309 (GRCm39) |
K341E |
possibly damaging |
Het |
Zfp142 |
T |
A |
1: 74,617,306 (GRCm39) |
S342C |
possibly damaging |
Het |
Zfp142 |
T |
G |
1: 74,617,308 (GRCm39) |
K341T |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 6,819,989 (GRCm39) |
I989L |
probably benign |
Het |
Zfyve9 |
A |
C |
4: 108,531,720 (GRCm39) |
V1095G |
probably damaging |
Het |
|
Other mutations in Cdhr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Cdhr3
|
APN |
12 |
33,102,208 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01508:Cdhr3
|
APN |
12 |
33,103,427 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02396:Cdhr3
|
APN |
12 |
33,095,195 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02414:Cdhr3
|
APN |
12 |
33,092,503 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02450:Cdhr3
|
APN |
12 |
33,132,224 (GRCm39) |
missense |
probably benign |
|
IGL02453:Cdhr3
|
APN |
12 |
33,092,502 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03342:Cdhr3
|
APN |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.14 |
R0022:Cdhr3
|
UTSW |
12 |
33,132,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R0022:Cdhr3
|
UTSW |
12 |
33,132,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R0133:Cdhr3
|
UTSW |
12 |
33,142,751 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0140:Cdhr3
|
UTSW |
12 |
33,130,412 (GRCm39) |
missense |
probably benign |
0.00 |
R0157:Cdhr3
|
UTSW |
12 |
33,111,649 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0762:Cdhr3
|
UTSW |
12 |
33,110,300 (GRCm39) |
missense |
probably benign |
0.01 |
R1421:Cdhr3
|
UTSW |
12 |
33,110,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1553:Cdhr3
|
UTSW |
12 |
33,092,370 (GRCm39) |
missense |
probably benign |
0.10 |
R1691:Cdhr3
|
UTSW |
12 |
33,132,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R1822:Cdhr3
|
UTSW |
12 |
33,095,204 (GRCm39) |
missense |
probably null |
1.00 |
R1855:Cdhr3
|
UTSW |
12 |
33,110,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Cdhr3
|
UTSW |
12 |
33,095,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2496:Cdhr3
|
UTSW |
12 |
33,099,068 (GRCm39) |
missense |
probably benign |
0.01 |
R2507:Cdhr3
|
UTSW |
12 |
33,088,914 (GRCm39) |
missense |
probably benign |
|
R3155:Cdhr3
|
UTSW |
12 |
33,099,152 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3906:Cdhr3
|
UTSW |
12 |
33,103,427 (GRCm39) |
missense |
probably damaging |
0.97 |
R4005:Cdhr3
|
UTSW |
12 |
33,130,355 (GRCm39) |
missense |
probably damaging |
0.98 |
R4277:Cdhr3
|
UTSW |
12 |
33,110,232 (GRCm39) |
missense |
probably null |
0.16 |
R4573:Cdhr3
|
UTSW |
12 |
33,118,152 (GRCm39) |
splice site |
probably null |
|
R4752:Cdhr3
|
UTSW |
12 |
33,136,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R5364:Cdhr3
|
UTSW |
12 |
33,101,007 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5562:Cdhr3
|
UTSW |
12 |
33,101,054 (GRCm39) |
missense |
probably benign |
0.01 |
R5564:Cdhr3
|
UTSW |
12 |
33,098,985 (GRCm39) |
nonsense |
probably null |
|
R5768:Cdhr3
|
UTSW |
12 |
33,096,685 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6255:Cdhr3
|
UTSW |
12 |
33,103,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R6821:Cdhr3
|
UTSW |
12 |
33,085,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R6983:Cdhr3
|
UTSW |
12 |
33,092,379 (GRCm39) |
missense |
probably benign |
0.32 |
R7155:Cdhr3
|
UTSW |
12 |
33,111,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R7496:Cdhr3
|
UTSW |
12 |
33,110,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R7736:Cdhr3
|
UTSW |
12 |
33,103,519 (GRCm39) |
missense |
probably benign |
0.33 |
R7788:Cdhr3
|
UTSW |
12 |
33,110,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Cdhr3
|
UTSW |
12 |
33,098,931 (GRCm39) |
splice site |
probably null |
|
R9226:Cdhr3
|
UTSW |
12 |
33,132,320 (GRCm39) |
missense |
probably damaging |
0.99 |
R9592:Cdhr3
|
UTSW |
12 |
33,136,007 (GRCm39) |
missense |
possibly damaging |
0.87 |
RF023:Cdhr3
|
UTSW |
12 |
33,110,348 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Cdhr3
|
UTSW |
12 |
33,117,235 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0028:Cdhr3
|
UTSW |
12 |
33,092,455 (GRCm39) |
missense |
probably benign |
|
Z1176:Cdhr3
|
UTSW |
12 |
33,130,323 (GRCm39) |
missense |
probably benign |
0.23 |
Z1176:Cdhr3
|
UTSW |
12 |
33,110,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |