|Institutional Source||Beutler Lab|
|Gene Name||FAT atypical cadherin 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6948 (G1)|
|Chromosomal Location||38886940-39011985 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 39009446 bp|
|Amino Acid Change||Leucine to Glutamine at position 4517 (L4517Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061836 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061260]|
|Predicted Effect||probably damaging
AA Change: L4517Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L4517Q
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
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]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fat4||
(F):5'- TGGAGGTAGCTGTGAACCAG -3'
(R):5'- TTCCTAACAGCTAGGTCATCCC -3'
(F):5'- TACACTTGCAGCTGTCCAGAG -3'
(R):5'- AGCTAGGTCATCCCCATAGG -3'