Incidental Mutation 'R5493:D130043K22Rik'
ID 432197
Institutional Source Beutler Lab
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms Kiaa0319
MMRRC Submission 043054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5493 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25047586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 377 (Y377C)
Ref Sequence ENSEMBL: ENSMUSP00000116004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect probably damaging
Transcript: ENSMUST00000006893
AA Change: Y377C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: Y377C

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: Y377C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: Y377C

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
Meta Mutation Damage Score 0.6102 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (80/81)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,471,993 (GRCm39) S236P possibly damaging Het
A830018L16Rik C T 1: 11,615,431 (GRCm39) R135C probably damaging Het
Agpat3 A G 10: 78,120,069 (GRCm39) V155A possibly damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Aloxe3 A T 11: 69,019,443 (GRCm39) R119* probably null Het
Asap1 A G 15: 64,002,000 (GRCm39) V460A possibly damaging Het
Bicral C A 17: 47,112,620 (GRCm39) R860L possibly damaging Het
Cd180 T A 13: 102,842,649 (GRCm39) I565N probably benign Het
Cdk13 T C 13: 17,978,147 (GRCm39) probably benign Het
Cdkn2d T C 9: 21,200,303 (GRCm39) D156G probably benign Het
Clrn1 A G 3: 58,753,837 (GRCm39) S175P probably damaging Het
Coro7 A G 16: 4,450,351 (GRCm39) L535S probably damaging Het
Cse1l A G 2: 166,783,110 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,728,550 (GRCm39) L7P unknown Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Duox2 T C 2: 122,111,977 (GRCm39) Q1341R probably damaging Het
Eif2b3 A G 4: 116,943,919 (GRCm39) D447G possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fbxw25 T C 9: 109,481,984 (GRCm39) Y234C probably benign Het
Gcnt2 A G 13: 41,107,076 (GRCm39) N315S possibly damaging Het
Gm20730 A T 6: 43,058,746 (GRCm39) V22E possibly damaging Het
Gm4847 T A 1: 166,457,890 (GRCm39) I488F probably damaging Het
Gmds A T 13: 32,124,488 (GRCm39) M290K probably benign Het
Gtf3c1 T C 7: 125,269,716 (GRCm39) N699S probably damaging Het
Hk3 A G 13: 55,158,984 (GRCm39) V479A probably damaging Het
Ifnlr1 G A 4: 135,432,877 (GRCm39) V438M probably benign Het
Il12rb1 C A 8: 71,262,483 (GRCm39) P26T probably benign Het
Il4i1 G T 7: 44,489,477 (GRCm39) R414L possibly damaging Het
Ipo4 T C 14: 55,868,327 (GRCm39) N490S probably benign Het
Kcnmb2 A G 3: 32,252,291 (GRCm39) E164G probably damaging Het
Kcns1 G A 2: 164,009,899 (GRCm39) L287F probably benign Het
Kdm1a ACC AC 4: 136,284,732 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Knl1 T A 2: 118,899,211 (GRCm39) I304K probably damaging Het
Ksr2 G T 5: 117,846,175 (GRCm39) V681F probably damaging Het
Lypd2 T C 15: 74,606,127 (GRCm39) T4A probably benign Het
Man1a A G 10: 53,950,576 (GRCm39) V182A probably benign Het
Or12j4 A T 7: 140,046,720 (GRCm39) D202V probably damaging Het
Or13e8 A G 4: 43,696,225 (GRCm39) F316S possibly damaging Het
Or2w2 A T 13: 21,758,042 (GRCm39) C195S probably damaging Het
Or51f5 A T 7: 102,424,315 (GRCm39) R195W probably benign Het
Or56b1b T C 7: 108,164,774 (GRCm39) D76G probably benign Het
Pcdha2 C A 18: 37,072,562 (GRCm39) F64L probably damaging Het
Pgap3 G C 11: 98,281,540 (GRCm39) F168L possibly damaging Het
Pip5k1b T C 19: 24,416,439 (GRCm39) N16S probably benign Het
Ppip5k1 T A 2: 121,167,253 (GRCm39) H41L probably damaging Het
Ppp1r9a A G 6: 5,159,702 (GRCm39) R1080G probably damaging Het
Qrich2 A C 11: 116,336,774 (GRCm39) probably null Het
Rbl2 C T 8: 91,842,447 (GRCm39) P1034L probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Rin2 A G 2: 145,702,629 (GRCm39) S442G probably damaging Het
Rtca C T 3: 116,293,280 (GRCm39) R71Q probably benign Het
Serpind1 A T 16: 17,157,902 (GRCm39) N366I probably damaging Het
Shox2 C G 3: 66,888,796 (GRCm39) G32R probably damaging Het
Sp3 T A 2: 72,768,466 (GRCm39) N766Y probably damaging Het
Spag7 T A 11: 70,560,059 (GRCm39) S17C probably null Het
Stk25 A T 1: 93,563,031 (GRCm39) F7I probably benign Het
Tbx15 G A 3: 99,259,880 (GRCm39) G584S probably benign Het
Tenm2 T C 11: 36,755,503 (GRCm39) D165G probably benign Het
Tox2 C A 2: 163,046,649 (GRCm39) S42* probably null Het
Vmn1r39 A G 6: 66,781,754 (GRCm39) V188A probably damaging Het
Zbtb5 A T 4: 44,993,941 (GRCm39) M481K probably benign Het
Zfp26 T C 9: 20,355,615 (GRCm39) T56A possibly damaging Het
Zfp459 C A 13: 67,556,498 (GRCm39) C195F probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp764 A G 7: 127,004,105 (GRCm39) I342T probably benign Het
Zfp942 T C 17: 22,151,985 (GRCm39) N7D probably null 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
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: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'- TTGCAAAGACACAGAGACCG -3'
(R):5'- ATCATCCATCTGCCTGATTGAG -3'

Sequencing Primer
(F):5'- AGAGACCGGAGATTCCTCTC -3'
(R):5'- CTGACCTTGAACTTCTAGGACGAAG -3'
Posted On 2016-10-05