Incidental Mutation 'R7584:D130043K22Rik'
ID 586990
Institutional Source Beutler Lab
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms Kiaa0319
MMRRC Submission 045667-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7584 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25056353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 562 (S562G)
Ref Sequence ENSEMBL: ENSMUSP00000006893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect probably damaging
Transcript: ENSMUST00000006893
AA Change: S562G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: S562G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:MANEC 23 102 3e-44 BLAST
low complexity region 236 270 N/A INTRINSIC
FN3 332 427 3.43e1 SMART
PKD 345 436 3.96e0 SMART
FN3 435 521 3.08e1 SMART
PKD 444 533 7.12e-10 SMART
PKD 539 629 1.46e-6 SMART
PKD 630 723 6.75e-11 SMART
FN3 634 711 5.1e1 SMART
FN3 728 808 9.15e1 SMART
PKD 729 820 4.38e-10 SMART
transmembrane domain 965 987 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141572
AA Change: S562G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: S562G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:MANEC 23 102 2e-44 BLAST
low complexity region 236 270 N/A INTRINSIC
FN3 332 427 3.43e1 SMART
PKD 345 436 3.96e0 SMART
FN3 435 521 3.08e1 SMART
PKD 444 533 7.12e-10 SMART
PKD 539 629 1.46e-6 SMART
PKD 630 723 6.75e-11 SMART
FN3 634 711 5.1e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,626,304 (GRCm39) probably null Het
Actrt3 T C 3: 30,652,356 (GRCm39) K246R probably benign Het
Adam23 T A 1: 63,584,621 (GRCm39) V343D probably damaging Het
Ak2 T C 4: 128,893,005 (GRCm39) S55P probably damaging Het
Ank2 G A 3: 126,739,777 (GRCm39) Q2036* probably null Het
Ano10 A G 9: 122,104,597 (GRCm39) I40T probably benign Het
Aoc2 T A 11: 101,217,005 (GRCm39) C363S possibly damaging Het
Aplp2 A T 9: 31,069,077 (GRCm39) V584E possibly damaging Het
Arhgap32 A T 9: 32,168,263 (GRCm39) T749S probably benign Het
Atm A T 9: 53,424,427 (GRCm39) F625I probably damaging Het
Atr T C 9: 95,824,766 (GRCm39) L2387P probably damaging Het
Barhl1 C T 2: 28,799,803 (GRCm39) G274D probably damaging Het
Bcl2a1a A T 9: 88,839,345 (GRCm39) D81V probably damaging Het
Ccdc63 T G 5: 122,251,267 (GRCm39) D381A possibly damaging Het
Col12a1 A G 9: 79,610,578 (GRCm39) probably null Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cyp4b1 T A 4: 115,485,884 (GRCm39) D351V probably damaging Het
Dgkb T A 12: 38,189,391 (GRCm39) probably null Het
Dmbt1 C T 7: 130,690,481 (GRCm39) Q905* probably null Het
Dnajc21 A C 15: 10,462,381 (GRCm39) Y81* probably null Het
Dnali1 T C 4: 124,959,331 (GRCm39) T21A probably benign Het
Dpp8 A T 9: 64,986,064 (GRCm39) L851F probably damaging Het
Dpt T C 1: 164,646,477 (GRCm39) Y149H probably benign Het
Ep300 T C 15: 81,512,627 (GRCm39) V983A unknown Het
Faf1 C T 4: 109,783,154 (GRCm39) R549C probably damaging Het
Gcm1 A G 9: 77,971,749 (GRCm39) N230S possibly damaging Het
Gm10803 T A 2: 93,394,513 (GRCm39) I95N probably damaging Het
Hectd4 T A 5: 121,456,798 (GRCm39) I721N possibly damaging Het
Hsp90ab1 T C 17: 45,881,197 (GRCm39) H315R probably damaging Het
Igkv10-95 T A 6: 68,657,740 (GRCm39) S85R possibly damaging Het
Katnip G T 7: 125,469,838 (GRCm39) V1436L probably damaging Het
Kcnq5 T C 1: 21,472,545 (GRCm39) T901A probably benign Het
Kremen1 C T 11: 5,144,964 (GRCm39) V471M possibly damaging Het
Lama2 C A 10: 26,980,257 (GRCm39) D1853Y possibly damaging Het
Lrif1 A G 3: 106,639,217 (GRCm39) T76A probably benign Het
Lrrtm2 T A 18: 35,345,818 (GRCm39) I495F possibly damaging Het
Ltbr G T 6: 125,284,204 (GRCm39) Q413K probably benign Het
Ms4a20 A G 19: 11,087,725 (GRCm39) F69L possibly damaging Het
Myrfl T A 10: 116,664,902 (GRCm39) Y376F probably damaging Het
Nup50l A C 6: 96,142,373 (GRCm39) L224V probably benign Het
Nup98 G T 7: 101,825,596 (GRCm39) N414K probably benign Het
Nynrin A G 14: 56,109,041 (GRCm39) T1383A probably damaging Het
Or4c15 G A 2: 88,760,149 (GRCm39) P170L probably damaging Het
Or5j1 A T 2: 86,879,478 (GRCm39) I34N probably benign Het
Or6c208 T A 10: 129,223,901 (GRCm39) I133N probably damaging Het
Or7g27 C A 9: 19,250,569 (GRCm39) T271K possibly damaging Het
Or8b1d G T 9: 38,558,191 (GRCm39) P210T possibly damaging Het
Pcdhb5 T A 18: 37,455,425 (GRCm39) S602T possibly damaging Het
Sall3 A G 18: 81,017,745 (GRCm39) F61S probably benign Het
Scube1 G T 15: 83,606,088 (GRCm39) C61* probably null Het
Sec31b T C 19: 44,519,995 (GRCm39) probably null Het
Sec31b T C 19: 44,531,762 (GRCm39) D49G probably damaging Het
Skic2 A G 17: 35,060,651 (GRCm39) I822T possibly damaging Het
Slc19a3 C T 1: 83,000,469 (GRCm39) V183M possibly damaging Het
Slc41a2 T C 10: 83,152,653 (GRCm39) probably benign Het
Sphk2 C A 7: 45,361,931 (GRCm39) V169L probably damaging Het
Synpo C A 18: 60,729,349 (GRCm39) R951L probably damaging Het
Tbc1d9b G A 11: 50,061,543 (GRCm39) C1017Y probably damaging Het
Tmtc4 C A 14: 123,215,563 (GRCm39) V28F probably benign Het
Tprkb A G 6: 85,905,809 (GRCm39) I165V probably benign Het
Ttc23l T A 15: 10,533,794 (GRCm39) I250F probably damaging Het
Tut4 T C 4: 108,336,543 (GRCm39) V89A probably benign Het
Ubr3 G A 2: 69,821,847 (GRCm39) V1370I probably damaging Het
Ush2a A G 1: 188,460,306 (GRCm39) probably null Het
Usp9y T C Y: 1,384,451 (GRCm39) Y689C probably damaging Het
Vmn1r56 A T 7: 5,198,895 (GRCm39) Y241N probably damaging Het
Vmn2r6 T C 3: 64,472,683 (GRCm39) T13A probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign Het
Vps9d1 A G 8: 123,977,456 (GRCm39) F131S probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wfdc16 A T 2: 164,480,547 (GRCm39) probably null Het
Zbtb41 T A 1: 139,351,795 (GRCm39) Y303N probably benign Het
Zbtb5 T C 4: 44,993,678 (GRCm39) T569A probably benign Het
Zfp111 A G 7: 23,898,025 (GRCm39) S530P possibly damaging Het
Other mutations in D130043K22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:D130043K22Rik APN 13 25,051,157 (GRCm39) missense probably damaging 1.00
IGL01114:D130043K22Rik APN 13 25,041,139 (GRCm39) missense probably damaging 0.99
IGL01412:D130043K22Rik APN 13 25,071,843 (GRCm39) missense probably damaging 1.00
IGL01542:D130043K22Rik APN 13 25,060,020 (GRCm39) splice site probably null
IGL01615:D130043K22Rik APN 13 25,083,779 (GRCm39) missense probably damaging 1.00
IGL01705:D130043K22Rik APN 13 25,041,924 (GRCm39) missense probably benign 0.00
IGL02220:D130043K22Rik APN 13 25,067,738 (GRCm39) missense possibly damaging 0.95
IGL02229:D130043K22Rik APN 13 25,059,907 (GRCm39) missense probably damaging 1.00
IGL02576:D130043K22Rik APN 13 25,040,853 (GRCm39) missense possibly damaging 0.74
IGL03038:D130043K22Rik APN 13 25,063,602 (GRCm39) missense probably damaging 1.00
IGL03117:D130043K22Rik APN 13 25,073,825 (GRCm39) missense probably damaging 1.00
IGL03014:D130043K22Rik UTSW 13 25,042,075 (GRCm39) missense possibly damaging 0.88
R0019:D130043K22Rik UTSW 13 25,064,795 (GRCm39) missense probably damaging 1.00
R0019:D130043K22Rik UTSW 13 25,064,795 (GRCm39) missense probably damaging 1.00
R0020:D130043K22Rik UTSW 13 25,038,475 (GRCm39) utr 5 prime probably benign
R0172:D130043K22Rik UTSW 13 25,056,389 (GRCm39) missense probably benign 0.16
R0276:D130043K22Rik UTSW 13 25,042,028 (GRCm39) missense possibly damaging 0.92
R0304:D130043K22Rik UTSW 13 25,048,798 (GRCm39) missense probably benign 0.07
R0335:D130043K22Rik UTSW 13 25,071,860 (GRCm39) missense probably damaging 0.98
R0744:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R0833:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R0836:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R1270:D130043K22Rik UTSW 13 25,041,321 (GRCm39) missense probably benign 0.00
R1433:D130043K22Rik UTSW 13 25,055,324 (GRCm39) missense probably damaging 1.00
R1682:D130043K22Rik UTSW 13 25,066,539 (GRCm39) missense probably damaging 1.00
R1772:D130043K22Rik UTSW 13 25,059,982 (GRCm39) missense probably damaging 1.00
R1773:D130043K22Rik UTSW 13 25,066,585 (GRCm39) missense possibly damaging 0.80
R1800:D130043K22Rik UTSW 13 25,067,877 (GRCm39) missense probably damaging 1.00
R1956:D130043K22Rik UTSW 13 25,069,578 (GRCm39) missense probably damaging 1.00
R2255:D130043K22Rik UTSW 13 25,040,894 (GRCm39) missense probably damaging 1.00
R2445:D130043K22Rik UTSW 13 25,041,019 (GRCm39) missense probably benign 0.04
R2568:D130043K22Rik UTSW 13 25,067,874 (GRCm39) missense probably damaging 0.97
R4160:D130043K22Rik UTSW 13 25,046,679 (GRCm39) missense probably benign 0.02
R4494:D130043K22Rik UTSW 13 25,055,339 (GRCm39) missense probably benign 0.16
R4732:D130043K22Rik UTSW 13 25,083,648 (GRCm39) missense probably damaging 1.00
R4733:D130043K22Rik UTSW 13 25,083,648 (GRCm39) missense probably damaging 1.00
R4782:D130043K22Rik UTSW 13 25,062,023 (GRCm39) missense probably damaging 1.00
R4799:D130043K22Rik UTSW 13 25,062,023 (GRCm39) missense probably damaging 1.00
R4864:D130043K22Rik UTSW 13 25,047,595 (GRCm39) missense probably damaging 1.00
R5155:D130043K22Rik UTSW 13 25,056,273 (GRCm39) missense probably damaging 1.00
R5240:D130043K22Rik UTSW 13 25,061,960 (GRCm39) missense probably damaging 1.00
R5383:D130043K22Rik UTSW 13 25,041,397 (GRCm39) missense probably benign 0.02
R5493:D130043K22Rik UTSW 13 25,047,586 (GRCm39) missense probably damaging 1.00
R6184:D130043K22Rik UTSW 13 25,069,574 (GRCm39) missense probably damaging 1.00
R6305:D130043K22Rik UTSW 13 25,069,668 (GRCm39) missense probably damaging 1.00
R6436:D130043K22Rik UTSW 13 25,061,918 (GRCm39) missense probably damaging 1.00
R6980:D130043K22Rik UTSW 13 25,048,764 (GRCm39) missense probably damaging 0.98
R7038:D130043K22Rik UTSW 13 25,077,391 (GRCm39) missense probably damaging 1.00
R7085:D130043K22Rik UTSW 13 25,056,285 (GRCm39) missense possibly damaging 0.95
R7147:D130043K22Rik UTSW 13 25,066,546 (GRCm39) missense probably benign 0.31
R7384:D130043K22Rik UTSW 13 25,066,588 (GRCm39) missense probably damaging 1.00
R7398:D130043K22Rik UTSW 13 25,077,360 (GRCm39) missense probably damaging 0.97
R7585:D130043K22Rik UTSW 13 25,069,568 (GRCm39) missense probably benign 0.01
R7588:D130043K22Rik UTSW 13 25,071,876 (GRCm39) missense probably damaging 0.99
R7610:D130043K22Rik UTSW 13 25,059,985 (GRCm39) missense probably benign 0.30
R7903:D130043K22Rik UTSW 13 25,059,995 (GRCm39) missense probably damaging 0.98
R7966:D130043K22Rik UTSW 13 25,077,406 (GRCm39) missense probably damaging 1.00
R8014:D130043K22Rik UTSW 13 25,040,685 (GRCm39) missense probably damaging 1.00
R8374:D130043K22Rik UTSW 13 25,041,962 (GRCm39) missense probably benign 0.07
R8543:D130043K22Rik UTSW 13 25,073,852 (GRCm39) missense probably benign 0.08
R8775:D130043K22Rik UTSW 13 25,040,982 (GRCm39) nonsense probably null
R8775-TAIL:D130043K22Rik UTSW 13 25,040,982 (GRCm39) nonsense probably null
R8806:D130043K22Rik UTSW 13 25,083,618 (GRCm39) missense probably benign 0.11
R8916:D130043K22Rik UTSW 13 25,056,254 (GRCm39) missense probably benign
R9209:D130043K22Rik UTSW 13 25,041,090 (GRCm39) missense possibly damaging 0.96
R9524:D130043K22Rik UTSW 13 25,071,876 (GRCm39) missense possibly damaging 0.89
R9743:D130043K22Rik UTSW 13 25,056,299 (GRCm39) missense probably damaging 0.97
Z1177:D130043K22Rik UTSW 13 25,056,231 (GRCm39) missense possibly damaging 0.79
Z1177:D130043K22Rik UTSW 13 25,040,817 (GRCm39) missense probably benign 0.39
Z1177:D130043K22Rik UTSW 13 25,040,692 (GRCm39) missense probably damaging 1.00
Z1177:D130043K22Rik UTSW 13 25,064,830 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACACTCTTGGATGTACGAGC -3'
(R):5'- AGAATTCCTGATTTAACAACCTCCC -3'

Sequencing Primer
(F):5'- TGGATGTACGAGCTTCCTTTTC -3'
(R):5'- TCCCTAAACCAAGAATAGATGAATGG -3'
Posted On 2019-10-24