Incidental Mutation 'IGL00919:Kirrel3'
ID 28153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kirrel3
Ensembl Gene ENSMUSG00000032036
Gene Name kirre like nephrin family adhesion molecule 3
Synonyms 2900036G11Rik, Neph2, 1500010O20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # IGL00919
Quality Score
Status
Chromosome 9
Chromosomal Location 34397190-34948012 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 34926549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045091] [ENSMUST00000115148] [ENSMUST00000187182] [ENSMUST00000187625] [ENSMUST00000188658] [ENSMUST00000188933] [ENSMUST00000190549]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000045091
SMART Domains Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036

DomainStartEndE-ValueType
IG 21 111 1.35e-9 SMART
IG 122 214 2.56e-1 SMART
Pfam:Ig_2 217 298 2.1e-6 PFAM
IGc2 314 372 1.66e-9 SMART
IG 392 484 1.06e-2 SMART
transmembrane domain 491 513 N/A INTRINSIC
low complexity region 568 581 N/A INTRINSIC
low complexity region 700 717 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115148
SMART Domains Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 54 144 1.35e-9 SMART
IG 155 247 2.56e-1 SMART
Pfam:Ig_3 249 318 7.2e-6 PFAM
IGc2 347 405 1.66e-9 SMART
IG 425 517 1.06e-2 SMART
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 601 614 N/A INTRINSIC
low complexity region 733 750 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187182
SMART Domains Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 28 118 1.35e-9 SMART
IG 129 221 2.56e-1 SMART
Pfam:Ig_2 224 305 2.3e-6 PFAM
IGc2 321 379 1.66e-9 SMART
IG 399 491 1.06e-2 SMART
transmembrane domain 510 532 N/A INTRINSIC
low complexity region 612 625 N/A INTRINSIC
low complexity region 744 761 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187625
SMART Domains Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036

DomainStartEndE-ValueType
IG 21 111 1.35e-9 SMART
IG 122 214 2.56e-1 SMART
Pfam:Ig_2 217 298 2.1e-6 PFAM
IGc2 314 372 1.66e-9 SMART
IG 392 484 1.06e-2 SMART
transmembrane domain 491 513 N/A INTRINSIC
low complexity region 568 581 N/A INTRINSIC
low complexity region 700 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188658
SMART Domains Protein: ENSMUSP00000140086
Gene: ENSMUSG00000032036

DomainStartEndE-ValueType
Pfam:Ig_2 1 31 1.4e-1 PFAM
IG 40 132 4.5e-5 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000188933
SMART Domains Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036

DomainStartEndE-ValueType
IG 21 111 5.7e-12 SMART
IG 122 214 1.1e-3 SMART
Pfam:Ig_2 217 298 3.7e-5 PFAM
IGc2 314 372 6.8e-12 SMART
IG 392 484 4.5e-5 SMART
transmembrane domain 503 525 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 712 729 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190549
SMART Domains Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036

DomainStartEndE-ValueType
IG 21 111 5.7e-12 SMART
IG 122 214 1.1e-3 SMART
Pfam:Ig_2 217 298 2.6e-5 PFAM
IGc2 314 372 6.8e-12 SMART
IG 392 484 4.5e-5 SMART
transmembrane domain 491 513 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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 nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef1 A G 1: 10,243,462 (GRCm39) V1029A probably damaging Het
Arhgap9 T C 10: 127,163,762 (GRCm39) probably benign Het
Ccdc63 T C 5: 122,262,982 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Ctps1 A G 4: 120,424,545 (GRCm39) V23A probably benign Het
Ehd4 T C 2: 119,927,535 (GRCm39) E333G possibly damaging Het
Espl1 T C 15: 102,207,064 (GRCm39) V176A probably benign Het
Fbxo41 A G 6: 85,455,552 (GRCm39) I544T probably damaging Het
Fut9 A G 4: 25,620,316 (GRCm39) V166A possibly damaging Het
Nell2 T A 15: 95,281,608 (GRCm39) D366V possibly damaging Het
Neurod4 A T 10: 130,106,683 (GRCm39) I197N probably damaging Het
Nlrp9c A T 7: 26,093,481 (GRCm39) Y61* probably null Het
Or4c121 T G 2: 89,023,848 (GRCm39) M177L probably benign Het
Pcdh1 T A 18: 38,335,865 (GRCm39) K118* probably null Het
Phf12 T A 11: 77,874,166 (GRCm39) I10N probably damaging Het
Ptprc A T 1: 138,041,380 (GRCm39) C250S probably damaging Het
Rtl8c A G X: 52,610,187 (GRCm39) T59A possibly damaging Het
Serpine1 A G 5: 137,092,376 (GRCm39) I377T probably benign Het
Shank2 A T 7: 143,965,008 (GRCm39) D865V probably damaging Het
Ski A T 4: 155,306,799 (GRCm39) V60E possibly damaging Het
St7l T A 3: 104,833,782 (GRCm39) L481H probably damaging Het
Tmpo A G 10: 90,998,662 (GRCm39) I375T probably damaging Het
Ubr5 T C 15: 38,041,086 (GRCm39) D266G probably damaging Het
Other mutations in Kirrel3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Kirrel3 APN 9 34,927,737 (GRCm39) missense probably benign 0.07
IGL01837:Kirrel3 APN 9 34,946,224 (GRCm39) missense probably damaging 1.00
IGL01950:Kirrel3 APN 9 34,939,625 (GRCm39) splice site probably benign
IGL01973:Kirrel3 APN 9 34,927,764 (GRCm39) missense probably damaging 1.00
IGL01994:Kirrel3 APN 9 34,931,429 (GRCm39) missense possibly damaging 0.71
IGL03184:Kirrel3 APN 9 34,919,052 (GRCm39) missense probably damaging 1.00
R0033:Kirrel3 UTSW 9 34,912,259 (GRCm39) missense probably benign 0.06
R0033:Kirrel3 UTSW 9 34,912,259 (GRCm39) missense probably benign 0.06
R0038:Kirrel3 UTSW 9 34,823,066 (GRCm39) splice site probably null
R0038:Kirrel3 UTSW 9 34,823,066 (GRCm39) splice site probably null
R0390:Kirrel3 UTSW 9 34,931,459 (GRCm39) missense probably damaging 1.00
R0627:Kirrel3 UTSW 9 34,946,470 (GRCm39) missense probably damaging 1.00
R0786:Kirrel3 UTSW 9 34,946,161 (GRCm39) missense probably damaging 1.00
R0920:Kirrel3 UTSW 9 34,939,648 (GRCm39) missense probably damaging 1.00
R0962:Kirrel3 UTSW 9 34,912,293 (GRCm39) missense possibly damaging 0.95
R1716:Kirrel3 UTSW 9 34,934,843 (GRCm39) missense probably damaging 1.00
R2010:Kirrel3 UTSW 9 34,850,494 (GRCm39) missense probably damaging 1.00
R4289:Kirrel3 UTSW 9 34,934,769 (GRCm39) missense probably benign 0.44
R4888:Kirrel3 UTSW 9 34,924,601 (GRCm39) missense probably damaging 1.00
R4970:Kirrel3 UTSW 9 34,855,735 (GRCm39) missense possibly damaging 0.88
R5121:Kirrel3 UTSW 9 34,924,601 (GRCm39) missense probably damaging 1.00
R5368:Kirrel3 UTSW 9 34,919,034 (GRCm39) missense probably damaging 1.00
R5572:Kirrel3 UTSW 9 34,912,244 (GRCm39) missense probably damaging 1.00
R5707:Kirrel3 UTSW 9 34,924,572 (GRCm39) missense probably damaging 1.00
R6302:Kirrel3 UTSW 9 34,919,045 (GRCm39) missense probably damaging 1.00
R6449:Kirrel3 UTSW 9 34,902,269 (GRCm39) missense probably benign
R6908:Kirrel3 UTSW 9 34,924,697 (GRCm39) missense possibly damaging 0.86
R6967:Kirrel3 UTSW 9 34,946,202 (GRCm39) missense probably damaging 1.00
R7578:Kirrel3 UTSW 9 34,850,408 (GRCm39) missense probably damaging 1.00
R7861:Kirrel3 UTSW 9 34,931,419 (GRCm39) missense possibly damaging 0.79
R8094:Kirrel3 UTSW 9 34,946,460 (GRCm39) missense probably damaging 1.00
R8383:Kirrel3 UTSW 9 34,941,179 (GRCm39) missense probably null 0.89
R8494:Kirrel3 UTSW 9 34,902,341 (GRCm39) missense probably benign 0.03
R8878:Kirrel3 UTSW 9 34,850,561 (GRCm39) splice site probably benign
R8955:Kirrel3 UTSW 9 34,855,738 (GRCm39) missense probably damaging 1.00
R9140:Kirrel3 UTSW 9 34,924,596 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17