Incidental Mutation 'R7221:Kirrel1'
ID 561797
Institutional Source Beutler Lab
Gene Symbol Kirrel1
Ensembl Gene ENSMUSG00000041734
Gene Name kirre like nephrin family adhesion molecule 1
Synonyms 6720469N11Rik, Neph1, Kirrel1, Kirrel
MMRRC Submission 045293-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7221 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 86985900-87082054 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 86993704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 518 (Q518*)
Ref Sequence ENSEMBL: ENSMUSP00000125525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041732] [ENSMUST00000107618] [ENSMUST00000159976]
AlphaFold Q80W68
Predicted Effect probably null
Transcript: ENSMUST00000041732
AA Change: Q518*
SMART Domains Protein: ENSMUSP00000043756
Gene: ENSMUSG00000041734
AA Change: Q518*

DomainStartEndE-ValueType
IG 59 149 3.62e-10 SMART
IG_like 160 252 1.27e1 SMART
IG_like 261 337 1.89e1 SMART
IGc2 352 410 3.28e-8 SMART
IG_like 430 522 5.71e0 SMART
transmembrane domain 529 551 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107618
AA Change: Q518*
SMART Domains Protein: ENSMUSP00000103243
Gene: ENSMUSG00000041734
AA Change: Q518*

DomainStartEndE-ValueType
IG 59 149 3.62e-10 SMART
IG_like 160 252 1.27e1 SMART
IG_like 261 337 1.89e1 SMART
IGc2 352 410 3.28e-8 SMART
IG_like 430 522 5.71e0 SMART
transmembrane domain 529 551 N/A INTRINSIC
low complexity region 694 712 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159976
AA Change: Q518*
SMART Domains Protein: ENSMUSP00000125525
Gene: ENSMUSG00000041734
AA Change: Q518*

DomainStartEndE-ValueType
IG 59 149 3.62e-10 SMART
IG_like 160 252 1.27e1 SMART
IG_like 261 337 1.89e1 SMART
IGc2 352 410 3.28e-8 SMART
IG_like 430 522 5.71e0 SMART
transmembrane domain 529 551 N/A INTRINSIC
low complexity region 694 712 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria. [provided by MGI curators]
Allele List at MGI

All alleles(121) : Targeted, other(2) Gene trapped(119)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,836,354 (GRCm39) probably benign Het
Abr A C 11: 76,313,987 (GRCm39) M720R probably benign Het
Acad10 G A 5: 121,768,273 (GRCm39) T761M probably damaging Het
Agxt G T 1: 93,065,623 (GRCm39) G164V possibly damaging Het
Ankar C T 1: 72,689,390 (GRCm39) G1247D probably damaging Het
Bptf A C 11: 106,945,658 (GRCm39) L2527R probably damaging Het
Brinp2 T C 1: 158,094,117 (GRCm39) H195R possibly damaging Het
Cacna2d4 G T 6: 119,213,624 (GRCm39) R14S probably benign Het
Cep126 A T 9: 8,100,988 (GRCm39) C515* probably null Het
Chia1 A T 3: 106,039,236 (GRCm39) N442I probably damaging Het
Clasp2 A G 9: 113,681,825 (GRCm39) D327G probably damaging Het
Cnbd2 T C 2: 156,215,581 (GRCm39) F519L probably benign Het
Cntrl T A 2: 35,041,869 (GRCm39) F1214I possibly damaging Het
Cul9 A T 17: 46,839,491 (GRCm39) M829K probably damaging Het
Cyp4b1 T C 4: 115,493,175 (GRCm39) Q223R possibly damaging Het
Defb37 A T 8: 19,040,988 (GRCm39) M1K probably null Het
Dnah7c A T 1: 46,494,937 (GRCm39) Q55L possibly damaging Het
Efcab3 A G 11: 104,791,432 (GRCm39) N2882S probably benign Het
Eif2b4 A T 5: 31,345,131 (GRCm39) D463E possibly damaging Het
Elapor1 T G 3: 108,382,317 (GRCm39) D232A possibly damaging Het
Elovl1 C T 4: 118,288,811 (GRCm39) H167Y probably damaging Het
Emb T A 13: 117,404,013 (GRCm39) L255Q probably damaging Het
Eogt T C 6: 97,089,685 (GRCm39) Y465C probably damaging Het
Erc2 A G 14: 27,375,115 (GRCm39) H111R probably damaging Het
Fam234b T C 6: 135,205,529 (GRCm39) F498S probably damaging Het
Fgfr3 GAGGCTGGCAGCGTGTACGCAGGC GAGGC 5: 33,890,092 (GRCm39) probably null Het
Flrt3 T A 2: 140,503,090 (GRCm39) E179D probably damaging Het
Fndc3a T C 14: 72,793,597 (GRCm39) R993G probably benign Het
Gm14325 T C 2: 177,476,403 (GRCm39) T14A probably damaging Het
Gm5464 T A 14: 67,106,681 (GRCm39) V106D unknown Het
Gpatch11 T A 17: 79,149,546 (GRCm39) I182N possibly damaging Het
Grm6 A G 11: 50,753,870 (GRCm39) R725G probably damaging Het
Hap1 A T 11: 100,239,655 (GRCm39) M588K probably benign Het
Icam2 A G 11: 106,273,268 (GRCm39) F15L probably benign Het
Ints8 A G 4: 11,225,613 (GRCm39) M648T probably benign Het
Ipo11 A T 13: 107,029,065 (GRCm39) L296Q probably damaging Het
Krt18 G T 15: 101,937,967 (GRCm39) D155Y possibly damaging Het
Lctl A T 9: 64,026,217 (GRCm39) K91* probably null Het
Marf1 C A 16: 13,960,349 (GRCm39) R565L probably damaging Het
Med13 A T 11: 86,178,921 (GRCm39) D1458E probably benign Het
Mroh8 T A 2: 157,071,837 (GRCm39) Y556F probably benign Het
Muc16 C T 9: 18,553,495 (GRCm39) G4266D probably benign Het
Nsrp1 A T 11: 76,939,249 (GRCm39) F182I probably damaging Het
Obox3 A T 7: 15,359,983 (GRCm39) Y229N probably benign Het
Or11h7 A T 14: 50,891,528 (GRCm39) Y278F probably damaging Het
Or2b2 T C 13: 21,887,272 (GRCm39) S34P probably damaging Het
Or2b4 A G 17: 38,116,452 (GRCm39) K139E probably benign Het
Or4a74 T C 2: 89,440,272 (GRCm39) Y58C probably damaging Het
Or4c108 A G 2: 88,803,497 (GRCm39) V246A probably damaging Het
Or4p22 T A 2: 88,317,973 (GRCm39) V299D probably damaging Het
Or8d1 A G 9: 38,766,538 (GRCm39) Y60C probably damaging Het
Pabpc2 T A 18: 39,906,963 (GRCm39) V76D possibly damaging Het
Parp9 T C 16: 35,774,071 (GRCm39) W348R probably benign Het
Pdp1 T C 4: 11,961,004 (GRCm39) T455A probably damaging Het
Phactr2 A C 10: 13,122,783 (GRCm39) D446E possibly damaging Het
Pi4kb T C 3: 94,901,500 (GRCm39) L389P probably damaging Het
Pla2g4f C T 2: 120,131,476 (GRCm39) R749H probably benign Het
Plec A G 15: 76,059,974 (GRCm39) V3321A probably damaging Het
Plod2 T C 9: 92,466,580 (GRCm39) V180A probably damaging Het
Plppr5 A G 3: 117,414,618 (GRCm39) I80V probably damaging Het
Potefam3d T G 8: 69,975,316 (GRCm39) D50A probably benign Het
Rubcn T C 16: 32,687,293 (GRCm39) probably null Het
Sacs T C 14: 61,446,255 (GRCm39) V2767A probably damaging Het
Selenbp2 C G 3: 94,611,133 (GRCm39) Y414* probably null Het
Slc45a4 A T 15: 73,458,259 (GRCm39) M430K probably benign Het
Smg1 A G 7: 117,782,020 (GRCm39) L1145P possibly damaging Het
Spns2 A G 11: 72,347,742 (GRCm39) V316A probably benign Het
Srl T A 16: 4,300,811 (GRCm39) E753D probably damaging Het
Thada T C 17: 84,771,794 (GRCm39) T23A possibly damaging Het
Tmem231 T C 8: 112,660,308 (GRCm39) T31A probably benign Het
Tpr C T 1: 150,321,929 (GRCm39) T2321M possibly damaging Het
Ttn T A 2: 76,772,195 (GRCm39) N2615I unknown Het
Vmn1r41 A G 6: 89,724,034 (GRCm39) I192V probably benign Het
Vmn2r83 A T 10: 79,316,001 (GRCm39) T466S probably benign Het
Vnn1 A G 10: 23,770,952 (GRCm39) D60G probably benign Het
Wiz G A 17: 32,578,139 (GRCm39) P449S probably benign Het
Zic1 A G 9: 91,246,785 (GRCm39) S96P probably damaging Het
Zw10 T A 9: 48,981,012 (GRCm39) S471T probably benign Het
Other mutations in Kirrel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Kirrel1 APN 3 86,997,182 (GRCm39) missense probably benign 0.22
IGL01865:Kirrel1 APN 3 86,993,731 (GRCm39) missense probably damaging 1.00
IGL01875:Kirrel1 APN 3 87,003,037 (GRCm39) missense probably damaging 1.00
IGL02337:Kirrel1 APN 3 86,996,519 (GRCm39) missense possibly damaging 0.64
IGL02724:Kirrel1 APN 3 86,997,780 (GRCm39) nonsense probably null
IGL02825:Kirrel1 APN 3 86,996,595 (GRCm39) splice site probably benign
IGL02826:Kirrel1 APN 3 86,995,792 (GRCm39) missense probably damaging 1.00
IGL03102:Kirrel1 APN 3 86,990,807 (GRCm39) missense probably damaging 0.98
D4043:Kirrel1 UTSW 3 86,990,510 (GRCm39) missense probably benign 0.02
R0360:Kirrel1 UTSW 3 86,997,106 (GRCm39) missense probably damaging 1.00
R0364:Kirrel1 UTSW 3 86,997,106 (GRCm39) missense probably damaging 1.00
R0421:Kirrel1 UTSW 3 86,990,914 (GRCm39) missense probably damaging 0.99
R0503:Kirrel1 UTSW 3 87,005,109 (GRCm39) missense probably benign 0.20
R1112:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1116:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1144:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1147:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1147:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1190:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1226:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1501:Kirrel1 UTSW 3 86,997,779 (GRCm39) missense probably benign 0.02
R1538:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1546:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1628:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1630:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1631:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1664:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1671:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1695:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1769:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1807:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1808:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1840:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1876:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R1995:Kirrel1 UTSW 3 87,003,093 (GRCm39) missense possibly damaging 0.88
R2014:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2086:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2108:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2354:Kirrel1 UTSW 3 86,995,792 (GRCm39) missense probably damaging 0.98
R2407:Kirrel1 UTSW 3 86,992,150 (GRCm39) missense probably benign 0.03
R2904:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2905:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2958:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2959:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2960:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R2961:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3026:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3028:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3034:Kirrel1 UTSW 3 86,990,746 (GRCm39) missense possibly damaging 0.56
R3149:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3195:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3196:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3499:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3699:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3720:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3721:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3788:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3793:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3876:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3877:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3901:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3910:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3911:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3912:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3913:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3930:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R3931:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4022:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4067:Kirrel1 UTSW 3 86,995,774 (GRCm39) nonsense probably null
R4077:Kirrel1 UTSW 3 86,992,387 (GRCm39) critical splice donor site probably null
R4198:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4328:Kirrel1 UTSW 3 86,992,081 (GRCm39) intron probably benign
R4355:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4363:Kirrel1 UTSW 3 86,997,792 (GRCm39) nonsense probably null
R4378:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4386:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4460:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4468:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4469:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4650:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4652:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4734:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4748:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R4749:Kirrel1 UTSW 3 86,996,458 (GRCm39) missense probably null 0.46
R5304:Kirrel1 UTSW 3 86,996,902 (GRCm39) missense probably benign 0.02
R5534:Kirrel1 UTSW 3 86,997,825 (GRCm39) missense probably damaging 1.00
R5604:Kirrel1 UTSW 3 86,996,462 (GRCm39) missense possibly damaging 0.69
R7199:Kirrel1 UTSW 3 86,990,695 (GRCm39) missense probably benign 0.02
R7284:Kirrel1 UTSW 3 86,990,694 (GRCm39) missense probably benign 0.02
R7332:Kirrel1 UTSW 3 86,995,705 (GRCm39) missense probably benign 0.14
R7369:Kirrel1 UTSW 3 87,048,391 (GRCm39) missense probably benign 0.20
R7371:Kirrel1 UTSW 3 86,995,729 (GRCm39) missense probably benign 0.44
R7508:Kirrel1 UTSW 3 86,990,746 (GRCm39) missense possibly damaging 0.56
R7566:Kirrel1 UTSW 3 86,995,791 (GRCm39) missense probably damaging 1.00
R7567:Kirrel1 UTSW 3 87,002,988 (GRCm39) missense probably damaging 0.99
R7621:Kirrel1 UTSW 3 86,995,528 (GRCm39) missense possibly damaging 0.70
R8030:Kirrel1 UTSW 3 87,005,082 (GRCm39) missense probably damaging 1.00
R8141:Kirrel1 UTSW 3 86,993,735 (GRCm39) nonsense probably null
R8261:Kirrel1 UTSW 3 86,995,309 (GRCm39) intron probably benign
R8477:Kirrel1 UTSW 3 86,992,138 (GRCm39) missense possibly damaging 0.71
R8512:Kirrel1 UTSW 3 86,995,534 (GRCm39) missense probably benign 0.00
R8954:Kirrel1 UTSW 3 86,997,173 (GRCm39) missense probably benign 0.25
R8987:Kirrel1 UTSW 3 86,992,400 (GRCm39) missense probably damaging 1.00
R9058:Kirrel1 UTSW 3 86,992,442 (GRCm39) missense probably benign 0.18
R9146:Kirrel1 UTSW 3 87,003,015 (GRCm39) missense probably damaging 1.00
R9311:Kirrel1 UTSW 3 87,005,123 (GRCm39) missense probably benign 0.29
R9527:Kirrel1 UTSW 3 86,996,912 (GRCm39) nonsense probably null
R9629:Kirrel1 UTSW 3 87,003,025 (GRCm39) nonsense probably null
Z1177:Kirrel1 UTSW 3 86,991,182 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GATGGCTTTCTGTTCATGCC -3'
(R):5'- ATGAGCTTCTTCCACGCATC -3'

Sequencing Primer
(F):5'- ATGCCTACAACTGTTCCTTCAAAG -3'
(R):5'- TCCCCCATCCCAGGCATG -3'
Posted On 2019-06-26