Incidental Mutation 'IGL02162:Kirrel2'
ID282506
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kirrel2
Ensembl Gene ENSMUSG00000036915
Gene Namekirre like nephrin family adhesion molecule 2
SynonymsC330019F22Rik, NEPH3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02162
Quality Score
Status
Chromosome7
Chromosomal Location30447534-30457690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30453664 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 340 (I340T)
Ref Sequence ENSEMBL: ENSMUSP00000039395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045817] [ENSMUST00000126297]
Predicted Effect probably benign
Transcript: ENSMUST00000045817
AA Change: I340T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915
AA Change: I340T

DomainStartEndE-ValueType
IG 27 117 9.18e-12 SMART
IG 128 219 5.13e-1 SMART
IG_like 230 306 8.06e0 SMART
IGc2 321 379 3.06e-8 SMART
IG_like 401 500 4.65e1 SMART
transmembrane domain 509 531 N/A INTRINSIC
low complexity region 547 565 N/A INTRINSIC
low complexity region 607 629 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117923
Predicted Effect probably benign
Transcript: ENSMUST00000126297
SMART Domains Protein: ENSMUSP00000116500
Gene: ENSMUSG00000006649

DomainStartEndE-ValueType
IG 38 132 1.38e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140565
Predicted Effect unknown
Transcript: ENSMUST00000169893
AA Change: I274T
SMART Domains Protein: ENSMUSP00000131161
Gene: ENSMUSG00000036915
AA Change: I274T

DomainStartEndE-ValueType
IG 27 117 9.18e-12 SMART
IG_like 118 189 5.91e-1 SMART
IG_like 211 287 8.06e0 SMART
IGc2 302 360 3.06e-8 SMART
IG_like 382 481 4.65e1 SMART
transmembrane domain 490 512 N/A INTRINSIC
low complexity region 528 546 N/A INTRINSIC
low complexity region 588 610 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170152
SMART Domains Protein: ENSMUSP00000132652
Gene: ENSMUSG00000036915

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 82 104 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.] This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang5 T C 14: 43,962,509 L10S probably damaging Het
Cdk5rap1 T C 2: 154,335,569 T577A probably damaging Het
Clca3a1 G T 3: 144,754,803 P297T probably damaging Het
Col9a2 A T 4: 121,054,334 probably benign Het
Ctss A G 3: 95,546,821 K227R probably benign Het
D230025D16Rik C T 8: 105,239,973 probably benign Het
D3Ertd254e T C 3: 36,164,061 F78L probably benign Het
Dmxl1 G A 18: 49,961,163 R2902Q probably benign Het
Dnah10 G T 5: 124,804,746 A2862S probably damaging Het
Fbxw5 C A 2: 25,503,271 Q16K probably damaging Het
Fcgbp G A 7: 28,075,235 C78Y probably damaging Het
Gm20547 T A 17: 34,857,027 Y688F possibly damaging Het
Gpaa1 T C 15: 76,332,153 probably benign Het
Grik2 T C 10: 49,422,575 H63R possibly damaging Het
Ikbkap A G 4: 56,796,502 probably null Het
Ikbke A G 1: 131,273,715 S132P possibly damaging Het
Lipo5 A T 19: 33,468,763 probably benign Het
Nfkbie T G 17: 45,556,316 probably null Het
Ntng1 G T 3: 109,934,995 S154* probably null Het
Olfr784 C T 10: 129,388,104 P157L probably benign Het
Olfr875 A G 9: 37,772,931 I91V probably benign Het
Pbld2 T C 10: 63,071,400 probably benign Het
Plec C T 15: 76,180,160 M1971I probably benign Het
Ppp1r3a A T 6: 14,717,715 F1067I probably damaging Het
Qpctl A G 7: 19,144,681 F290L possibly damaging Het
Sorcs3 A T 19: 48,535,531 Y288F probably damaging Het
St8sia3 A G 18: 64,265,580 N37D probably benign Het
Vmn2r109 T C 17: 20,554,160 D311G probably benign Het
Zbtb44 A G 9: 31,053,392 I33V probably benign Het
Zfp541 C A 7: 16,079,468 T682K possibly damaging Het
Other mutations in Kirrel2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Kirrel2 APN 7 30452740 missense probably damaging 1.00
IGL02609:Kirrel2 APN 7 30448340 missense probably benign 0.00
R0029:Kirrel2 UTSW 7 30453165 unclassified probably benign
R0395:Kirrel2 UTSW 7 30450458 missense possibly damaging 0.68
R0987:Kirrel2 UTSW 7 30448130 missense probably damaging 1.00
R1511:Kirrel2 UTSW 7 30456498 missense probably damaging 1.00
R2226:Kirrel2 UTSW 7 30454154 missense probably damaging 1.00
R4818:Kirrel2 UTSW 7 30449868 missense probably benign 0.32
R4963:Kirrel2 UTSW 7 30450801 critical splice donor site probably null
R6918:Kirrel2 UTSW 7 30450814 missense probably damaging 1.00
R6985:Kirrel2 UTSW 7 30455306 missense probably damaging 1.00
R6995:Kirrel2 UTSW 7 30455179 missense probably damaging 1.00
R7014:Kirrel2 UTSW 7 30454574 missense probably benign 0.01
Posted On2015-04-16