|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably essential (E-score: 0.753)|
|Stock #||R5013 (G1)|
|Chromosomal Location||48279760-48431954 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 48421807 bp|
|Amino Acid Change||Arginine to Glutamine at position 813 (R813Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030029 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030029] [ENSMUST00000143433]|
|Predicted Effect||probably damaging
AA Change: R813Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R813Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.034|
|Coding Region Coverage||
|Validation Efficiency||100% (86/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Transgenic mice homozygous for an insertional mutation exhibit complete inversion of the L-R body axis, reversal of embryo turning, complex cardiac anomalies, an abnormally slow turbulent leftward nodal flow, and renal cyst formation. Most succumb to renal failure within 1 week of life. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Invs||
(F):5'- GTGAGACCAATGGCAAACAC -3'
(R):5'- GCACAGATGTCCTCATAAAGCTG -3'
(F):5'- CCTTGTGCACTGGGTCAG -3'
(R):5'- AGATGTCCTCATAAAGCTGCTTGC -3'