Incidental Mutation 'R8775:D130043K22Rik'
ID 664673
Institutional Source Beutler Lab
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms Kiaa0319
MMRRC Submission 068719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8775 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 25040982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 135 (E135*)
Ref Sequence ENSEMBL: ENSMUSP00000006893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect probably null
Transcript: ENSMUST00000006893
AA Change: E135*
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: E135*

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 null
Transcript: ENSMUST00000141572
AA Change: E135*
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: E135*

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: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T C 6: 39,552,142 (GRCm39) probably null Het
Alpk3 A C 7: 80,727,598 (GRCm39) M243L probably benign Het
Anapc1 A T 2: 128,499,093 (GRCm39) Y860N possibly damaging Het
Asprv1 T C 6: 86,605,321 (GRCm39) S56P probably damaging Het
Dnmt3b A G 2: 153,511,711 (GRCm39) H293R possibly damaging Het
Dsg1a C T 18: 20,473,564 (GRCm39) S879L probably damaging Het
Fbxo24 C T 5: 137,611,213 (GRCm39) A526T possibly damaging Het
Fign A T 2: 63,810,891 (GRCm39) D126E probably benign Het
Gpr137 A G 19: 6,915,800 (GRCm39) F377L probably damaging Het
Gsdma2 A G 11: 98,540,009 (GRCm39) K44E probably damaging Het
Iigp1 A C 18: 60,523,596 (GRCm39) Y238S probably damaging Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Kcnip2 T C 19: 45,782,149 (GRCm39) N258S possibly damaging Het
Lcat A G 8: 106,669,023 (GRCm39) I84T possibly damaging Het
Mansc1 C T 6: 134,587,631 (GRCm39) R182H probably benign Het
Myh4 T C 11: 67,148,006 (GRCm39) M1685T probably benign Het
Myo10 T A 15: 25,800,145 (GRCm39) V1407E probably damaging Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nckap1 A G 2: 80,375,410 (GRCm39) S297P probably benign Het
Nefm T C 14: 68,362,108 (GRCm39) Y52C probably damaging Het
Ntng2 A T 2: 29,117,976 (GRCm39) N157K possibly damaging Het
Oscp1 T C 4: 125,970,619 (GRCm39) V136A probably benign Het
Oser1 G A 2: 163,249,004 (GRCm39) T66I probably benign Het
Palld A G 8: 62,138,006 (GRCm39) L583P possibly damaging Het
Pex7 A G 10: 19,760,522 (GRCm39) probably null Het
Ppp2r3d A G 9: 101,004,204 (GRCm39) Y378H probably benign Het
Prss33 T A 17: 24,052,885 (GRCm39) N263I possibly damaging Het
Psg25 A C 7: 18,255,153 (GRCm39) C454W probably damaging Het
Ptpn21 T C 12: 98,649,001 (GRCm39) probably null Het
Sh3bp2 A T 5: 34,719,751 (GRCm39) S587C probably damaging Het
Sos2 A G 12: 69,664,006 (GRCm39) F493L probably benign Het
St8sia4 T A 1: 95,519,472 (GRCm39) T339S possibly damaging Het
Taok1 T C 11: 77,470,632 (GRCm39) K58E probably benign Het
Thsd1 A G 8: 22,749,643 (GRCm39) D838G possibly damaging Het
Tulp2 A G 7: 45,164,914 (GRCm39) T65A probably benign Het
Usp54 A T 14: 20,638,466 (GRCm39) S205T probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r37 A T 7: 9,218,991 (GRCm39) Y464* probably null Het
Wdsub1 A G 2: 59,693,014 (GRCm39) M300T probably damaging Het
Xrcc5 C T 1: 72,433,089 (GRCm39) T716I probably benign Het
Zfp619 G T 7: 39,184,639 (GRCm39) C223F 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
R7584:D130043K22Rik UTSW 13 25,056,353 (GRCm39) missense probably damaging 1.00
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-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'- AGCTGCTATCTGGTGAAATGC -3'
(R):5'- CCATGGAAGCAGCTGAGTTG -3'

Sequencing Primer
(F):5'- CTATCTGGTGAAATGCATGCGCTC -3'
(R):5'- CCTGTAGCTGTAGCATTGAAACC -3'
Posted On 2021-03-08