Incidental Mutation 'IGL02396:Cdhr3'
ID |
294358 |
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 # |
IGL02396
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
33083795-33142874 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33095195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 625
(I625F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095774]
|
AlphaFold |
Q8BL00 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095774
AA Change: I625F
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000093449 Gene: ENSMUSG00000035860 AA Change: I625F
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
Bmp3 |
C |
A |
5: 99,020,578 (GRCm39) |
Q334K |
possibly damaging |
Het |
Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
Cpeb4 |
T |
A |
11: 31,875,441 (GRCm39) |
S547T |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
Esrra |
C |
A |
19: 6,889,373 (GRCm39) |
V339L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
Milr1 |
C |
A |
11: 106,656,065 (GRCm39) |
Y212* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
Osbpl7 |
T |
G |
11: 96,946,377 (GRCm39) |
L158R |
probably damaging |
Het |
Psmd4 |
A |
T |
3: 94,943,221 (GRCm39) |
L61Q |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
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 |
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 |
IGL02567:Cdhr3
|
APN |
12 |
33,088,900 (GRCm39) |
missense |
probably benign |
0.02 |
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 |