MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014] PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, reduced birth body size, curly tails, kyphosis, small lungs, renal cysts, and defects in sternum and vertebrae morphology, neural tube width, cochlear elongation, stereocilia orientation, kidney development, and intestinal elongation. [provided by MGI curators]
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Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,339,911 |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,672,092 |
T171A |
probably benign |
Het |
Armc4 |
T |
C |
18: 7,222,617 |
T551A |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,985,506 |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,591,889 |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,394,022 |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 71,989,926 |
V395A |
possibly damaging |
Het |
Ephb2 |
T |
C |
4: 136,659,777 |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 140,120,679 |
M824K |
probably benign |
Het |
Fam46c |
C |
T |
3: 100,472,664 |
D259N |
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,022,771 |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,504,210 |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,419,936 |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,550,226 |
I435R |
probably damaging |
Het |
Lrrc6 |
A |
T |
15: 66,396,974 |
|
probably benign |
Het |
Olfr291 |
T |
C |
7: 84,856,411 |
L14P |
probably damaging |
Het |
Omg |
C |
T |
11: 79,502,224 |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,021,487 |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,606,066 |
T298A |
probably benign |
Het |
Rab27b |
T |
A |
18: 69,989,554 |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,213,484 |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,516,492 |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,909,084 |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,981,325 |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 |
I782T |
possibly damaging |
Het |
Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 80,274,311 |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,145,333 |
I54V |
probably benign |
Het |
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