Incidental Mutation 'R8254:Kirrel2'
ID 640649
Institutional Source Beutler Lab
Gene Symbol Kirrel2
Ensembl Gene ENSMUSG00000036915
Gene Name kirre like nephrin family adhesion molecule 2
Synonyms C330019F22Rik, NEPH3
MMRRC Submission 067680-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R8254 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30146959-30157115 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 30149801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006828] [ENSMUST00000045817]
AlphaFold Q7TSU7
Predicted Effect probably benign
Transcript: ENSMUST00000006828
SMART Domains Protein: ENSMUSP00000006828
Gene: ENSMUSG00000006651

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
A4_EXTRA 46 211 1.72e-114 SMART
low complexity region 234 247 N/A INTRINSIC
low complexity region 259 277 N/A INTRINSIC
Pfam:APP_E2 289 471 9.3e-72 PFAM
Pfam:APP_amyloid 600 651 9.4e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000045817
SMART Domains Protein: ENSMUSP00000039395
Gene: ENSMUSG00000036915

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 probably benign
Transcript: ENSMUST00000169893
SMART Domains Protein: ENSMUSP00000131161
Gene: ENSMUSG00000036915

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,760 (GRCm39) Y236C probably benign Het
Arhgef2 T C 3: 88,549,910 (GRCm39) L655P probably damaging Het
Brsk2 T C 7: 141,538,153 (GRCm39) S100P probably damaging Het
Calb1 A G 4: 15,898,926 (GRCm39) T141A probably benign Het
Cog6 T C 3: 52,900,938 (GRCm39) T447A probably benign Het
Cyp4f13 A T 17: 33,148,907 (GRCm39) N279K probably benign Het
Dnah11 T C 12: 117,842,259 (GRCm39) D4440G possibly damaging Het
Dspp A T 5: 104,323,194 (GRCm39) E112D possibly damaging Het
Fam3c T A 6: 22,328,675 (GRCm39) T71S possibly damaging Het
Fcgbpl1 T C 7: 27,846,774 (GRCm39) V1119A possibly damaging Het
Fdxr C A 11: 115,162,144 (GRCm39) G188W probably damaging Het
Fndc5 T C 4: 129,032,514 (GRCm39) V39A possibly damaging Het
Gm14226 T C 2: 154,866,646 (GRCm39) I201T possibly damaging Het
Grip1 C T 10: 119,890,810 (GRCm39) Q950* probably null Het
Haspin A T 11: 73,027,572 (GRCm39) Y506N probably benign Het
Itga2b C A 11: 102,358,212 (GRCm39) R171L probably benign Het
Kctd2 C T 11: 115,311,174 (GRCm39) P61S unknown Het
Ldc1 C A 4: 130,114,136 (GRCm39) A94S probably benign Het
Lmx1b A G 2: 33,455,126 (GRCm39) F310S Het
Map4k4 A T 1: 40,045,835 (GRCm39) I574F probably damaging Het
Nrip1 T C 16: 76,088,287 (GRCm39) K1090R probably benign Het
Ntrk3 T C 7: 77,842,326 (GRCm39) Y820C probably damaging Het
Or5ac25 T A 16: 59,182,534 (GRCm39) I16L probably benign Het
Or5b96 T C 19: 12,867,849 (GRCm39) T31A probably benign Het
Pcdhb11 T C 18: 37,555,242 (GRCm39) Y191H probably benign Het
Pgm5 T C 19: 24,705,089 (GRCm39) K475E probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psd4 A T 2: 24,293,223 (GRCm39) D696V probably damaging Het
Rere T C 4: 150,697,129 (GRCm39) F556L unknown Het
Sema4f A T 6: 82,894,382 (GRCm39) C528S probably damaging Het
Sorcs2 A G 5: 36,195,550 (GRCm39) S680P probably benign Het
Sv2c T C 13: 96,225,073 (GRCm39) T79A probably damaging Het
Tars3 A G 7: 65,325,809 (GRCm39) N461S probably benign Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tubd1 A T 11: 86,440,264 (GRCm39) Q96L probably damaging Het
Vmn2r72 T C 7: 85,400,227 (GRCm39) D274G probably damaging Het
Vps13d A T 4: 144,709,882 (GRCm39) probably benign Het
Vwce C A 19: 10,627,938 (GRCm39) S466Y probably damaging Het
Wdr11 T C 7: 129,236,560 (GRCm39) I1178T probably benign Het
Zfp568 A T 7: 29,714,558 (GRCm39) H145L probably benign Het
Zfp606 T C 7: 12,226,788 (GRCm39) I303T possibly damaging Het
Zfp846 A G 9: 20,504,587 (GRCm39) D149G probably benign Het
Other mutations in Kirrel2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02162:Kirrel2 APN 7 30,153,089 (GRCm39) missense probably benign 0.03
IGL02457:Kirrel2 APN 7 30,152,165 (GRCm39) missense probably damaging 1.00
IGL02609:Kirrel2 APN 7 30,147,765 (GRCm39) missense probably benign 0.00
R0029:Kirrel2 UTSW 7 30,152,590 (GRCm39) unclassified probably benign
R0395:Kirrel2 UTSW 7 30,149,883 (GRCm39) missense possibly damaging 0.68
R0987:Kirrel2 UTSW 7 30,147,555 (GRCm39) missense probably damaging 1.00
R1511:Kirrel2 UTSW 7 30,155,923 (GRCm39) missense probably damaging 1.00
R2226:Kirrel2 UTSW 7 30,153,579 (GRCm39) missense probably damaging 1.00
R4818:Kirrel2 UTSW 7 30,149,293 (GRCm39) missense probably benign 0.32
R4963:Kirrel2 UTSW 7 30,150,226 (GRCm39) critical splice donor site probably null
R6918:Kirrel2 UTSW 7 30,150,239 (GRCm39) missense probably damaging 1.00
R6985:Kirrel2 UTSW 7 30,154,731 (GRCm39) missense probably damaging 1.00
R6995:Kirrel2 UTSW 7 30,154,604 (GRCm39) missense probably damaging 1.00
R7014:Kirrel2 UTSW 7 30,153,999 (GRCm39) missense probably benign 0.01
R8363:Kirrel2 UTSW 7 30,152,968 (GRCm39) missense probably damaging 0.99
R9061:Kirrel2 UTSW 7 30,150,305 (GRCm39) missense probably benign 0.00
R9066:Kirrel2 UTSW 7 30,153,454 (GRCm39) missense probably damaging 1.00
R9099:Kirrel2 UTSW 7 30,147,642 (GRCm39) missense probably benign 0.07
R9445:Kirrel2 UTSW 7 30,150,260 (GRCm39) missense probably damaging 0.97
Z1176:Kirrel2 UTSW 7 30,152,882 (GRCm39) missense probably benign 0.01
Z1177:Kirrel2 UTSW 7 30,152,171 (GRCm39) missense probably benign 0.34
Z1186:Kirrel2 UTSW 7 30,147,622 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATCATGTTTAAGACTGGGGCC -3'
(R):5'- AGCTCTGTTTTACGTACTGGTC -3'

Sequencing Primer
(F):5'- ATCTAATTTGGAAGCCAGCCTGG -3'
(R):5'- GTCACTTCCCCCTTACCAATGAATG -3'
Posted On 2020-07-28