Incidental Mutation 'R0390:Kirrel3'
ID 31610
Institutional Source Beutler Lab
Gene Symbol Kirrel3
Ensembl Gene ENSMUSG00000032036
Gene Name kirre like nephrin family adhesion molecule 3
Synonyms 2900036G11Rik, Neph2, 1500010O20Rik
MMRRC Submission 038596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R0390 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 34485894-35036716 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35020163 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 409 (I409N)
Ref Sequence ENSEMBL: ENSMUSP00000139714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045091] [ENSMUST00000115148] [ENSMUST00000187182] [ENSMUST00000187625] [ENSMUST00000188658] [ENSMUST00000188933] [ENSMUST00000190549]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045091
AA Change: I409N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: I409N

DomainStartEndE-ValueType
IG 21 111 1.35e-9 SMART
IG 122 214 2.56e-1 SMART
Pfam:Ig_2 217 298 2.1e-6 PFAM
IGc2 314 372 1.66e-9 SMART
IG 392 484 1.06e-2 SMART
transmembrane domain 491 513 N/A INTRINSIC
low complexity region 568 581 N/A INTRINSIC
low complexity region 700 717 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115148
AA Change: I442N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: I442N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 54 144 1.35e-9 SMART
IG 155 247 2.56e-1 SMART
Pfam:Ig_3 249 318 7.2e-6 PFAM
IGc2 347 405 1.66e-9 SMART
IG 425 517 1.06e-2 SMART
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 601 614 N/A INTRINSIC
low complexity region 733 750 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187182
AA Change: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: I416N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 28 118 1.35e-9 SMART
IG 129 221 2.56e-1 SMART
Pfam:Ig_2 224 305 2.3e-6 PFAM
IGc2 321 379 1.66e-9 SMART
IG 399 491 1.06e-2 SMART
transmembrane domain 510 532 N/A INTRINSIC
low complexity region 612 625 N/A INTRINSIC
low complexity region 744 761 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187625
AA Change: I409N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: I409N

DomainStartEndE-ValueType
IG 21 111 1.35e-9 SMART
IG 122 214 2.56e-1 SMART
Pfam:Ig_2 217 298 2.1e-6 PFAM
IGc2 314 372 1.66e-9 SMART
IG 392 484 1.06e-2 SMART
transmembrane domain 491 513 N/A INTRINSIC
low complexity region 568 581 N/A INTRINSIC
low complexity region 700 717 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188658
AA Change: I57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140086
Gene: ENSMUSG00000032036
AA Change: I57N

DomainStartEndE-ValueType
Pfam:Ig_2 1 31 1.4e-1 PFAM
IG 40 132 4.5e-5 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188933
AA Change: I409N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: I409N

DomainStartEndE-ValueType
IG 21 111 5.7e-12 SMART
IG 122 214 1.1e-3 SMART
Pfam:Ig_2 217 298 3.7e-5 PFAM
IGc2 314 372 6.8e-12 SMART
IG 392 484 4.5e-5 SMART
transmembrane domain 503 525 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 712 729 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190549
AA Change: I409N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: I409N

DomainStartEndE-ValueType
IG 21 111 5.7e-12 SMART
IG 122 214 1.1e-3 SMART
Pfam:Ig_2 217 298 2.6e-5 PFAM
IGc2 314 372 6.8e-12 SMART
IG 392 484 4.5e-5 SMART
transmembrane domain 491 513 N/A INTRINSIC
Meta Mutation Damage Score 0.5774 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
Validation Efficiency 98% (110/112)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired accessory olfactory bulb formation with reduced coalescence of vomeronasal sensory neuron axons in the posterior accessory olfactory bulb, loss of male-male aggression and abnormal male sexual response to a male intruder mouse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730017C20Rik T A 18: 59,075,688 (GRCm38) V136E probably damaging Het
Adam18 C T 8: 24,674,054 (GRCm38) G38R probably benign Het
Ap2m1 T C 16: 20,541,099 (GRCm38) M183T probably damaging Het
Apob A T 12: 7,988,678 (GRCm38) I364F probably damaging Het
Arl6 A T 16: 59,622,421 (GRCm38) probably benign Het
Cand2 A G 6: 115,774,653 (GRCm38) M15V possibly damaging Het
Cbl A G 9: 44,201,005 (GRCm38) F131S probably damaging Het
Ccdc151 T A 9: 21,991,708 (GRCm38) H442L probably benign Het
Ccdc74a A G 16: 17,650,476 (GRCm38) S321G probably benign Het
Cdc14b T C 13: 64,210,192 (GRCm38) probably benign Het
Cep152 T C 2: 125,576,869 (GRCm38) probably benign Het
Cep290 A G 10: 100,508,758 (GRCm38) E479G probably benign Het
Chrm2 T G 6: 36,524,111 (GRCm38) I301R probably benign Het
Clec2e A G 6: 129,093,468 (GRCm38) W197R probably damaging Het
Cnot10 G T 9: 114,629,150 (GRCm38) S96* probably null Het
Col19a1 A G 1: 24,289,655 (GRCm38) probably benign Het
Csmd2 T C 4: 128,133,673 (GRCm38) probably benign Het
Cthrc1 A T 15: 39,086,764 (GRCm38) *172L probably null Het
Cul9 A T 17: 46,528,589 (GRCm38) I821N probably benign Het
Daam1 G C 12: 71,975,304 (GRCm38) probably benign Het
Dhx58 A T 11: 100,699,264 (GRCm38) I398N probably damaging Het
Dip2b T A 15: 100,193,913 (GRCm38) H844Q probably damaging Het
Dmac2 A G 7: 25,621,029 (GRCm38) D50G probably damaging Het
Dmxl1 C A 18: 49,879,362 (GRCm38) Q1529K probably benign Het
Dtna C T 18: 23,597,501 (GRCm38) P315L probably damaging Het
Ep300 T C 15: 81,640,116 (GRCm38) S1382P unknown Het
Fat2 A T 11: 55,310,777 (GRCm38) N490K probably damaging Het
Flg2 T A 3: 93,200,355 (GRCm38) probably benign Het
Gm13084 T A 4: 143,811,699 (GRCm38) D234V probably benign Het
Gpatch1 T C 7: 35,281,381 (GRCm38) probably benign Het
Grin2a C A 16: 9,579,585 (GRCm38) K879N possibly damaging Het
Hacd3 A C 9: 65,001,022 (GRCm38) I164S possibly damaging Het
Hinfp A C 9: 44,298,948 (GRCm38) C197G probably damaging Het
Hsd17b12 T C 2: 94,114,990 (GRCm38) probably benign Het
Hsd3b1 A T 3: 98,853,039 (GRCm38) L212Q probably damaging Het
Ifrd1 C T 12: 40,214,094 (GRCm38) probably null Het
Igf2bp2 A G 16: 22,081,801 (GRCm38) F129L possibly damaging Het
Klhdc10 T C 6: 30,447,412 (GRCm38) I204T probably damaging Het
Kpna6 A T 4: 129,657,804 (GRCm38) S65R possibly damaging Het
Lama3 A T 18: 12,407,563 (GRCm38) D308V probably benign Het
Larp4b T A 13: 9,158,107 (GRCm38) probably null Het
Lgr6 C T 1: 134,994,010 (GRCm38) A199T probably damaging Het
Lyzl1 A T 18: 4,169,175 (GRCm38) T11S probably benign Het
Man1c1 A G 4: 134,578,315 (GRCm38) L366P probably damaging Het
Mef2a A G 7: 67,251,724 (GRCm38) M100T probably damaging Het
Mettl13 G A 1: 162,538,889 (GRCm38) H474Y possibly damaging Het
Mmp3 A G 9: 7,451,320 (GRCm38) D352G probably benign Het
Mns1 T C 9: 72,452,804 (GRCm38) I412T probably damaging Het
Mon2 T C 10: 123,007,021 (GRCm38) D1501G probably null Het
Mylk G T 16: 34,875,620 (GRCm38) G242W probably damaging Het
Nav1 T C 1: 135,449,966 (GRCm38) D1715G possibly damaging Het
Nckap1l T C 15: 103,453,883 (GRCm38) S2P probably damaging Het
Nek3 A T 8: 22,128,729 (GRCm38) probably benign Het
Nfrkb A G 9: 31,388,897 (GRCm38) probably benign Het
Nlrp4d T C 7: 10,388,778 (GRCm38) D53G probably benign Het
Nol8 T C 13: 49,662,152 (GRCm38) S561P probably damaging Het
Nuf2 A C 1: 169,525,297 (GRCm38) probably benign Het
Ofcc1 T A 13: 40,015,313 (GRCm38) D866V possibly damaging Het
Olfr195 A G 16: 59,149,299 (GRCm38) I150V probably benign Het
Optn A G 2: 5,046,195 (GRCm38) L125P probably benign Het
Otoa T A 7: 121,131,341 (GRCm38) F588Y probably benign Het
Pappa T A 4: 65,351,613 (GRCm38) probably null Het
Pde5a T G 3: 122,835,583 (GRCm38) C635W probably damaging Het
Pdgfb A T 15: 80,003,419 (GRCm38) probably null Het
Pih1d2 T A 9: 50,621,046 (GRCm38) C135S probably damaging Het
Plcg1 G T 2: 160,752,366 (GRCm38) C361F probably damaging Het
Ppp4r4 T C 12: 103,601,360 (GRCm38) probably benign Het
Prdm10 G A 9: 31,349,268 (GRCm38) probably null Het
Prex2 T A 1: 11,089,706 (GRCm38) probably null Het
Prss56 T G 1: 87,184,730 (GRCm38) probably null Het
Prtg A G 9: 72,844,958 (GRCm38) K209E probably benign Het
Ptprc G A 1: 138,122,575 (GRCm38) T36I possibly damaging Het
Rasgrp4 A G 7: 29,145,860 (GRCm38) Y302C probably damaging Het
Rb1cc1 T A 1: 6,248,634 (GRCm38) M759K probably damaging Het
Rbm15b T A 9: 106,885,998 (GRCm38) M324L probably benign Het
Rcbtb2 T C 14: 73,178,547 (GRCm38) V500A probably damaging Het
Rgs6 A G 12: 83,133,677 (GRCm38) K434R probably damaging Het
Rims1 C T 1: 22,596,526 (GRCm38) A125T possibly damaging Het
Robo3 A G 9: 37,422,177 (GRCm38) V746A probably benign Het
Rtl1 C T 12: 109,591,386 (GRCm38) E1340K unknown Het
Sacs G A 14: 61,205,640 (GRCm38) D1712N possibly damaging Het
Samd4b G A 7: 28,403,977 (GRCm38) P19S probably benign Het
Samhd1 T C 2: 157,114,231 (GRCm38) Y347C probably damaging Het
Sema6d T A 2: 124,658,490 (GRCm38) I393N probably damaging Het
Sigmar1 C T 4: 41,741,243 (GRCm38) A4T probably benign Het
Skint9 C A 4: 112,389,179 (GRCm38) L245F probably benign Het
Slc35f5 T C 1: 125,585,095 (GRCm38) L372P probably damaging Het
Smc1b A T 15: 85,066,277 (GRCm38) I1182N probably damaging Het
Smyd3 A G 1: 178,957,573 (GRCm38) probably benign Het
Sptlc1 T C 13: 53,337,612 (GRCm38) D417G probably benign Het
Sv2c T C 13: 96,088,708 (GRCm38) N31S probably benign Het
Tjp1 T C 7: 65,314,990 (GRCm38) D811G probably damaging Het
Top2b A G 14: 16,418,442 (GRCm38) T1221A probably benign Het
Tph2 T C 10: 115,174,109 (GRCm38) D182G probably damaging Het
Traf6 C T 2: 101,688,588 (GRCm38) Q141* probably null Het
Ttn T C 2: 76,756,931 (GRCm38) D21574G probably damaging Het
Uba2 T A 7: 34,151,021 (GRCm38) N367I probably benign Het
Ube2b T C 11: 51,988,602 (GRCm38) probably benign Het
Ubr5 G T 15: 38,030,672 (GRCm38) L426I probably benign Het
Ugt2a2 T A 5: 87,464,148 (GRCm38) H301L probably benign Het
Upf2 T A 2: 6,018,894 (GRCm38) probably benign Het
Utrn T C 10: 12,710,060 (GRCm38) D991G probably benign Het
Vmn2r25 T C 6: 123,823,181 (GRCm38) D734G probably damaging Het
Vmn2r68 T A 7: 85,233,249 (GRCm38) probably benign Het
Vmn2r68 C G 7: 85,233,258 (GRCm38) probably null Het
Vwf T A 6: 125,626,361 (GRCm38) Y891* probably null Het
Wwox C T 8: 114,706,278 (GRCm38) T228I probably benign Het
Zer1 C T 2: 30,108,213 (GRCm38) probably benign Het
Zfp180 C T 7: 24,104,707 (GRCm38) H184Y possibly damaging Het
Zfp68 A T 5: 138,607,225 (GRCm38) Y279N probably benign Het
Other mutations in Kirrel3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Kirrel3 APN 9 35,015,253 (GRCm38) critical splice acceptor site probably null
IGL01369:Kirrel3 APN 9 35,016,441 (GRCm38) missense probably benign 0.07
IGL01837:Kirrel3 APN 9 35,034,928 (GRCm38) missense probably damaging 1.00
IGL01950:Kirrel3 APN 9 35,028,329 (GRCm38) splice site probably benign
IGL01973:Kirrel3 APN 9 35,016,468 (GRCm38) missense probably damaging 1.00
IGL01994:Kirrel3 APN 9 35,020,133 (GRCm38) missense possibly damaging 0.71
IGL03184:Kirrel3 APN 9 35,007,756 (GRCm38) missense probably damaging 1.00
R0033:Kirrel3 UTSW 9 35,000,963 (GRCm38) missense probably benign 0.06
R0033:Kirrel3 UTSW 9 35,000,963 (GRCm38) missense probably benign 0.06
R0038:Kirrel3 UTSW 9 34,911,770 (GRCm38) splice site probably null
R0038:Kirrel3 UTSW 9 34,911,770 (GRCm38) splice site probably null
R0627:Kirrel3 UTSW 9 35,035,174 (GRCm38) missense probably damaging 1.00
R0786:Kirrel3 UTSW 9 35,034,865 (GRCm38) missense probably damaging 1.00
R0920:Kirrel3 UTSW 9 35,028,352 (GRCm38) missense probably damaging 1.00
R0962:Kirrel3 UTSW 9 35,000,997 (GRCm38) missense possibly damaging 0.95
R1716:Kirrel3 UTSW 9 35,023,547 (GRCm38) missense probably damaging 1.00
R2010:Kirrel3 UTSW 9 34,939,198 (GRCm38) missense probably damaging 1.00
R4289:Kirrel3 UTSW 9 35,023,473 (GRCm38) missense probably benign 0.44
R4888:Kirrel3 UTSW 9 35,013,305 (GRCm38) missense probably damaging 1.00
R4970:Kirrel3 UTSW 9 34,944,439 (GRCm38) missense possibly damaging 0.88
R5121:Kirrel3 UTSW 9 35,013,305 (GRCm38) missense probably damaging 1.00
R5368:Kirrel3 UTSW 9 35,007,738 (GRCm38) missense probably damaging 1.00
R5572:Kirrel3 UTSW 9 35,000,948 (GRCm38) missense probably damaging 1.00
R5707:Kirrel3 UTSW 9 35,013,276 (GRCm38) missense probably damaging 1.00
R6302:Kirrel3 UTSW 9 35,007,749 (GRCm38) missense probably damaging 1.00
R6449:Kirrel3 UTSW 9 34,990,973 (GRCm38) missense probably benign
R6908:Kirrel3 UTSW 9 35,013,401 (GRCm38) missense possibly damaging 0.86
R6967:Kirrel3 UTSW 9 35,034,906 (GRCm38) missense probably damaging 1.00
R7578:Kirrel3 UTSW 9 34,939,112 (GRCm38) missense probably damaging 1.00
R7861:Kirrel3 UTSW 9 35,020,123 (GRCm38) missense possibly damaging 0.79
R8094:Kirrel3 UTSW 9 35,035,164 (GRCm38) missense probably damaging 1.00
R8383:Kirrel3 UTSW 9 35,029,883 (GRCm38) missense probably null 0.89
R8494:Kirrel3 UTSW 9 34,991,045 (GRCm38) missense probably benign 0.03
R8878:Kirrel3 UTSW 9 34,939,265 (GRCm38) splice site probably benign
R8955:Kirrel3 UTSW 9 34,944,442 (GRCm38) missense probably damaging 1.00
R9140:Kirrel3 UTSW 9 35,013,300 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGATTGGTGGACACGCTTCTGAAC -3'
(R):5'- ATGGAAGGCACAGAGTACCTCCTG -3'

Sequencing Primer
(F):5'- ACCCATCAAAAGAGGGTGC -3'
(R):5'- GGTGCCTAATTCAGTCTGAATCAC -3'
Posted On 2013-04-24