Incidental Mutation 'R7567:Kirrel1'
ID 585488
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 045629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7567 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 86985900-87082054 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87002988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 135 (T135K)
Ref Sequence ENSEMBL: ENSMUSP00000125525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041732] [ENSMUST00000107618] [ENSMUST00000159976]
AlphaFold Q80W68
Predicted Effect probably damaging
Transcript: ENSMUST00000041732
AA Change: T135K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043756
Gene: ENSMUSG00000041734
AA Change: T135K

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 damaging
Transcript: ENSMUST00000107618
AA Change: T135K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103243
Gene: ENSMUSG00000041734
AA Change: T135K

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 damaging
Transcript: ENSMUST00000159976
AA Change: T135K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125525
Gene: ENSMUSG00000041734
AA Change: T135K

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: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,226,838 (GRCm39) Q464H probably damaging Het
Abcc5 A T 16: 20,224,260 (GRCm39) S108T probably damaging Het
Acss3 T C 10: 106,959,174 (GRCm39) S91G probably benign Het
Adgrf4 T A 17: 42,978,333 (GRCm39) I337L probably benign Het
Adgrv1 A G 13: 81,581,648 (GRCm39) S4799P probably benign Het
Adgrv1 T C 13: 81,727,596 (GRCm39) D348G probably damaging Het
Afdn A G 17: 14,109,070 (GRCm39) D1546G probably benign Het
Agr2 A T 12: 36,045,946 (GRCm39) R64S probably benign Het
Ankrd13a T A 5: 114,927,545 (GRCm39) probably null Het
Apon T A 10: 128,090,922 (GRCm39) M200K possibly damaging Het
Art4 T C 6: 136,831,428 (GRCm39) S238G possibly damaging Het
Atp2a2 A T 5: 122,629,847 (GRCm39) V74D probably benign Het
Atrnl1 T C 19: 57,687,955 (GRCm39) S807P probably damaging Het
C2cd3 T C 7: 100,080,022 (GRCm39) V936A Het
Car15 T A 16: 17,654,652 (GRCm39) H122L probably damaging Het
Cav3 A T 6: 112,449,428 (GRCm39) R149W probably benign Het
Ccdc8 A T 7: 16,728,687 (GRCm39) I59F probably damaging Het
Ccng2 G A 5: 93,418,731 (GRCm39) V119I probably benign Het
Ceacam2 A G 7: 25,227,333 (GRCm39) I178T probably benign Het
Ces2a A G 8: 105,467,930 (GRCm39) D520G probably benign Het
Cln8 T C 8: 14,945,057 (GRCm39) S124P probably benign Het
Coro2a T A 4: 46,546,674 (GRCm39) D227V probably damaging Het
Cpa4 A C 6: 30,573,889 (GRCm39) R32S probably benign Het
Creb3l4 G T 3: 90,149,729 (GRCm39) D45E probably benign Het
Crybb2 C T 5: 113,213,759 (GRCm39) probably null Het
Cul7 T A 17: 46,965,521 (GRCm39) H566Q probably benign Het
Cyp2b10 A G 7: 25,614,204 (GRCm39) Y226C probably damaging Het
Dennd2a A T 6: 39,499,743 (GRCm39) V274D probably benign Het
Dmbt1 G A 7: 130,663,093 (GRCm39) probably null Het
Drc7 T C 8: 95,794,684 (GRCm39) I363T probably benign Het
Drd3 G A 16: 43,643,047 (GRCm39) V396I probably benign Het
Dync2i1 A T 12: 116,218,130 (GRCm39) probably null Het
Eif2ak4 A G 2: 118,280,795 (GRCm39) N1054S probably benign Het
Epc1 A C 18: 6,450,084 (GRCm39) V458G probably damaging Het
Exoc1 T A 5: 76,685,562 (GRCm39) D91E probably damaging Het
Fat4 T A 3: 38,943,485 (GRCm39) F793I probably damaging Het
Fhod1 T C 8: 106,074,469 (GRCm39) E6G unknown Het
Galnt16 G A 12: 80,628,084 (GRCm39) probably null Het
Ganc A T 2: 120,286,582 (GRCm39) T804S probably benign Het
Gpam A T 19: 55,070,062 (GRCm39) V398E possibly damaging Het
Gpr68 A G 12: 100,844,623 (GRCm39) V307A probably benign Het
Grm7 C T 6: 111,335,722 (GRCm39) S711L probably damaging Het
Hemgn T A 4: 46,397,034 (GRCm39) R67S probably damaging Het
Hmg20b T C 10: 81,182,493 (GRCm39) D281G possibly damaging Het
Ifi211 A C 1: 173,729,401 (GRCm39) F277V probably damaging Het
Ighmbp2 T C 19: 3,322,981 (GRCm39) I322V probably benign Het
Iqce A T 5: 140,671,830 (GRCm39) L265H probably damaging Het
Itgal G T 7: 126,898,960 (GRCm39) A101S probably benign Het
Kif5a C T 10: 127,073,248 (GRCm39) M647I probably benign Het
Klf16 T C 10: 80,412,622 (GRCm39) Y138C probably benign Het
Klhl7 A G 5: 24,331,844 (GRCm39) T49A probably benign Het
Mr1 T C 1: 155,022,474 (GRCm39) probably benign Het
Mrc1 A T 2: 14,330,104 (GRCm39) I1238F probably damaging Het
Ncoa5 C T 2: 164,846,171 (GRCm39) M225I possibly damaging Het
Nf1 A T 11: 79,438,052 (GRCm39) T121S probably damaging Het
Ngfr T C 11: 95,465,147 (GRCm39) T234A probably benign Het
Ninj1 T G 13: 49,347,356 (GRCm39) F74V probably damaging Het
Npffr1 T C 10: 61,462,088 (GRCm39) V408A probably benign Het
Nsd2 T C 5: 34,003,570 (GRCm39) V240A probably damaging Het
Obi1 T C 14: 104,716,814 (GRCm39) T520A probably damaging Het
Or12d13 T A 17: 37,648,062 (GRCm39) E20D probably benign Het
Or2z2 A G 11: 58,345,992 (GRCm39) M261T probably damaging Het
Or7a35 T A 10: 78,853,379 (GRCm39) F74L probably benign Het
Or8b44 G A 9: 38,410,369 (GRCm39) V135I probably benign Het
Or8g34 T C 9: 39,373,173 (GRCm39) S146P possibly damaging Het
Ovol1 T C 19: 5,601,614 (GRCm39) H136R probably damaging Het
Prag1 T A 8: 36,569,760 (GRCm39) D114E possibly damaging Het
Pramel17 T C 4: 101,694,331 (GRCm39) N184S probably benign Het
Prss3b C A 6: 41,010,127 (GRCm39) R69L probably benign Het
Prss57 T A 10: 79,623,234 (GRCm39) H71L probably benign Het
Ptgs2 T C 1: 149,978,448 (GRCm39) F187L probably damaging Het
Ptprz1 A T 6: 22,959,779 (GRCm39) N92I probably damaging Het
Rab23 A T 1: 33,773,812 (GRCm39) T91S possibly damaging Het
Rag1 A G 2: 101,474,006 (GRCm39) S379P probably damaging Het
Ribc2 G T 15: 85,027,448 (GRCm39) D310Y probably damaging Het
Rims1 A G 1: 22,507,291 (GRCm39) Y620H probably damaging Het
Rock1 A C 18: 10,090,820 (GRCm39) V938G probably benign Het
Rsph10b A G 5: 143,886,244 (GRCm39) N314S possibly damaging Het
Sertad1 A G 7: 27,189,327 (GRCm39) D216G possibly damaging Het
Shisal1 G A 15: 84,290,914 (GRCm39) T131M probably benign Het
Slco6d1 T A 1: 98,425,252 (GRCm39) V600D probably damaging Het
Snapc2 T C 8: 4,305,314 (GRCm39) I232T probably damaging Het
Snx13 A G 12: 35,136,913 (GRCm39) S125G probably damaging Het
Srcin1 C T 11: 97,425,551 (GRCm39) R502H probably damaging Het
Tesmin A G 19: 3,442,218 (GRCm39) E167G possibly damaging Het
Tex10 T C 4: 48,468,787 (GRCm39) I129M possibly damaging Het
Tmem235 A G 11: 117,754,967 (GRCm39) S140G probably benign Het
Trim60 T A 8: 65,454,177 (GRCm39) D24V probably damaging Het
Ttc39c A G 18: 12,822,936 (GRCm39) E148G probably benign Het
Vmn2r70 G T 7: 85,214,243 (GRCm39) T303K probably benign Het
Wdr48 A T 9: 119,745,894 (GRCm39) T426S possibly damaging Het
Xirp2 A T 2: 67,346,326 (GRCm39) T2856S probably benign Het
Zswim8 A G 14: 20,770,001 (GRCm39) N1356S probably damaging 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
R7221:Kirrel1 UTSW 3 86,993,704 (GRCm39) nonsense probably null
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
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'- CCCTAGTTGATGATGAAGTTCATG -3'
(R):5'- TCTGCTGTGAGGAGAAGCTG -3'

Sequencing Primer
(F):5'- ATGAAGTTCATGTAAGGAGTTGC -3'
(R):5'- ACAATGAGTCTTGGGTGGAG -3'
Posted On 2019-10-17