Incidental Mutation 'R1695:Kirrel1'
ID 192107
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 039728-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1695 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 86985900-87082054 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86996458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 380 (M380I)
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: M380I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043756
Gene: ENSMUSG00000041734
AA Change: M380I

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: M380I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103243
Gene: ENSMUSG00000041734
AA Change: M380I

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: M380I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125525
Gene: ENSMUSG00000041734
AA Change: M380I

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
Meta Mutation Damage Score 0.0922 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T A 5: 121,638,970 (GRCm39) T692S probably benign Het
Adgrf3 T A 5: 30,408,553 (GRCm39) N75I probably benign Het
Adgrg5 A G 8: 95,664,373 (GRCm39) M328V probably damaging Het
Adk A G 14: 21,431,668 (GRCm39) D286G probably benign Het
Ankrd28 T A 14: 31,429,201 (GRCm39) D917V probably damaging Het
Appl2 C T 10: 83,457,446 (GRCm39) D141N probably damaging Het
Arfgef2 T C 2: 166,706,632 (GRCm39) V952A probably damaging Het
Arpc2 T A 1: 74,287,391 (GRCm39) H70Q probably damaging Het
Bpifa5 T C 2: 154,009,580 (GRCm39) L261P probably damaging Het
Brca1 G T 11: 101,415,281 (GRCm39) T951K probably damaging Het
Ccdc73 A T 2: 104,822,450 (GRCm39) S800C probably damaging Het
Cdh15 C G 8: 123,588,755 (GRCm39) D276E probably benign Het
Cfap119 A G 7: 127,186,745 (GRCm39) probably null Het
Cfap418 T A 4: 10,874,644 (GRCm39) D10E probably damaging Het
Cfh T C 1: 140,030,575 (GRCm39) I551V probably damaging Het
Chd7 T A 4: 8,833,960 (GRCm39) L1238Q probably damaging Het
Chd9 T G 8: 91,728,410 (GRCm39) F1275L probably damaging Het
Chrnb3 A G 8: 27,883,728 (GRCm39) Y155C probably damaging Het
Cltc C A 11: 86,591,886 (GRCm39) probably null Het
Ctsll3 T A 13: 60,948,791 (GRCm39) N55Y probably damaging Het
Cysltr2 T C 14: 73,267,321 (GRCm39) M130V probably benign Het
Daglb T C 5: 143,480,361 (GRCm39) M455T probably benign Het
Dbn1 A G 13: 55,624,521 (GRCm39) S343P probably benign Het
Dnah2 T A 11: 69,405,517 (GRCm39) D665V possibly damaging Het
Dusp6 T A 10: 99,099,555 (GRCm39) M1K probably null Het
Eif3m T C 2: 104,847,298 (GRCm39) E12G probably damaging Het
Epha2 T C 4: 141,033,828 (GRCm39) V29A possibly damaging Het
Farp2 T A 1: 93,488,047 (GRCm39) N91K probably damaging Het
Ferd3l C A 12: 33,978,971 (GRCm39) S161R probably benign Het
Fgd2 A T 17: 29,587,219 (GRCm39) D315V possibly damaging Het
Fhip2a T C 19: 57,367,603 (GRCm39) W337R probably damaging Het
Fstl4 T A 11: 53,056,705 (GRCm39) probably null Het
Grm5 A G 7: 87,685,311 (GRCm39) D476G possibly damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hdlbp A G 1: 93,364,922 (GRCm39) L115P probably damaging Het
Hk2 T A 6: 82,721,932 (GRCm39) N136Y probably damaging Het
Hs2st1 G T 3: 144,140,415 (GRCm39) A302E probably benign Het
Htr7 T C 19: 35,947,136 (GRCm39) N293D probably benign Het
Ikbkb T A 8: 23,163,496 (GRCm39) E271D probably benign Het
Il5ra A T 6: 106,715,335 (GRCm39) Y166* probably null Het
Il9r T A 11: 32,143,227 (GRCm39) H244L probably benign Het
Itih4 T C 14: 30,613,456 (GRCm39) probably null Het
Large1 A T 8: 73,544,710 (GRCm39) D689E probably damaging Het
Limk2 A G 11: 3,303,275 (GRCm39) probably null Het
Med15 A G 16: 17,540,644 (GRCm39) F34S probably damaging Het
Mprip C T 11: 59,643,357 (GRCm39) T505I probably damaging Het
Mtor T A 4: 148,623,364 (GRCm39) N2071K probably benign Het
Muc16 A G 9: 18,408,729 (GRCm39) L2522P probably damaging Het
Myd88 A T 9: 119,166,908 (GRCm39) probably null Het
Myo7a A C 7: 97,741,703 (GRCm39) F484V possibly damaging Het
Nme1 A C 11: 93,851,593 (GRCm39) L81R probably benign Het
Ntn4 T A 10: 93,569,464 (GRCm39) probably null Het
Or2y13 T C 11: 49,415,162 (GRCm39) V204A probably benign Het
Or4p19 T C 2: 88,242,444 (GRCm39) D186G probably damaging Het
Or51l4 A T 7: 103,404,131 (GRCm39) Y220* probably null Het
Otogl T G 10: 107,649,878 (GRCm39) N1159T probably damaging Het
Pabpc6 G A 17: 9,887,003 (GRCm39) T516I probably benign Het
Pcdh1 C T 18: 38,335,921 (GRCm39) R238H probably damaging Het
Pex5l T A 3: 33,008,531 (GRCm39) N151I probably benign Het
Plekha7 T C 7: 115,727,920 (GRCm39) N980S probably damaging Het
Reg4 C T 3: 98,143,677 (GRCm39) T157I probably benign Het
Rev3l A T 10: 39,700,612 (GRCm39) E1703V probably damaging Het
Rev3l G T 10: 39,700,611 (GRCm39) E1703* probably null Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Saal1 T C 7: 46,342,340 (GRCm39) K368E probably damaging Het
Scn9a C T 2: 66,335,220 (GRCm39) W1245* probably null Het
Slc38a11 T A 2: 65,147,315 (GRCm39) L387F probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sptb C A 12: 76,667,641 (GRCm39) V819L probably benign Het
Sptbn1 T C 11: 30,086,124 (GRCm39) T1195A probably benign Het
Ssna1 C A 2: 25,162,024 (GRCm39) V57F possibly damaging Het
Stk32a G T 18: 43,446,485 (GRCm39) E312* probably null Het
Synpo A G 18: 60,736,459 (GRCm39) F496L probably benign Het
Syt15 C T 14: 33,944,858 (GRCm39) T135M probably benign Het
Tm9sf4 A G 2: 153,032,832 (GRCm39) E246G probably benign Het
Trim44 T C 2: 102,187,830 (GRCm39) M308V possibly damaging Het
Unc119b T A 5: 115,272,885 (GRCm39) K29* probably null Het
Vim T A 2: 13,584,921 (GRCm39) D367E probably benign Het
Virma T A 4: 11,494,814 (GRCm39) N38K probably damaging Het
Vmn1r228 A T 17: 20,996,560 (GRCm39) D319E possibly damaging Het
Vmn2r32 T A 7: 7,466,991 (GRCm39) I846F probably benign Het
Vps13b T C 15: 35,576,667 (GRCm39) V1025A probably benign Het
Vps13c G T 9: 67,879,357 (GRCm39) E566* probably null 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
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
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'- GTATGGCTGACTGCAAGTACCCTC -3'
(R):5'- GGGACGAAAACTCCACTAACCTGG -3'

Sequencing Primer
(F):5'- GACTGCAAGTACCCTCTTTCC -3'
(R):5'- AGCTGATGATTCTCAGGCAC -3'
Posted On 2014-05-14