Incidental Mutation 'R4888:Kirrel3'
ID 377108
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 042493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R4888 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 34397190-34948012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34924601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 296 (G296W)
Ref Sequence ENSEMBL: ENSMUSP00000110801 (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: G263W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048863
Gene: ENSMUSG00000032036
AA Change: G263W

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: G296W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110801
Gene: ENSMUSG00000032036
AA Change: G296W

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: G270W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140219
Gene: ENSMUSG00000032036
AA Change: G270W

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: G263W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139951
Gene: ENSMUSG00000032036
AA Change: G263W

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 benign
Transcript: ENSMUST00000188658
SMART Domains Protein: ENSMUSP00000140086
Gene: ENSMUSG00000032036

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: G263W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139418
Gene: ENSMUSG00000032036
AA Change: G263W

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: G263W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139714
Gene: ENSMUSG00000032036
AA Change: G263W

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (150/151)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931403M11Rik C A 14: 24,671,419 (GRCm39) noncoding transcript Het
Abca7 A G 10: 79,838,562 (GRCm39) K612R probably damaging Het
Adamtsl3 T C 7: 82,223,822 (GRCm39) V275A possibly damaging Het
Afg3l1 G A 8: 124,215,065 (GRCm39) probably null Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Alcam T A 16: 52,089,176 (GRCm39) H508L probably benign Het
Ankrd45 G A 1: 160,982,942 (GRCm39) R151H probably damaging Het
Aqr G A 2: 113,980,990 (GRCm39) L264F probably damaging Het
Arfgef2 G A 2: 166,677,533 (GRCm39) A53T probably damaging Het
Arhgap30 A G 1: 171,236,880 (GRCm39) T1085A probably benign Het
Atp10a T C 7: 58,435,055 (GRCm39) V314A probably damaging Het
Bdp1 T C 13: 100,187,627 (GRCm39) D1580G probably benign Het
Btbd17 T A 11: 114,684,917 (GRCm39) T41S possibly damaging Het
Cacna1c T C 6: 118,728,400 (GRCm39) N378S probably damaging Het
Camsap1 G T 2: 25,825,562 (GRCm39) Q1375K probably benign Het
Catsper2 G T 2: 121,227,604 (GRCm39) probably null Het
Cblif A G 19: 11,729,583 (GRCm39) T181A probably benign Het
Ccar1 A G 10: 62,588,997 (GRCm39) S829P unknown Het
Ccdc180 T C 4: 45,909,308 (GRCm39) L492P probably damaging Het
Ccser2 A T 14: 36,662,343 (GRCm39) N280K probably damaging Het
Cd37 T C 7: 44,883,359 (GRCm39) D271G probably damaging Het
Cdcp1 G A 9: 123,011,194 (GRCm39) probably benign Het
Cemip2 T C 19: 21,833,528 (GRCm39) V1322A probably benign Het
Cep85 T A 4: 133,892,062 (GRCm39) probably benign Het
Cfi C T 3: 129,666,726 (GRCm39) P483L probably damaging Het
Csmd1 A G 8: 15,945,674 (GRCm39) probably benign Het
Cytl1 G T 5: 37,892,918 (GRCm39) L9F unknown Het
Defb26 T C 2: 152,350,085 (GRCm39) E65G possibly damaging Het
Degs1 G A 1: 182,104,370 (GRCm39) T305I probably damaging Het
Dnttip2 T G 3: 122,070,241 (GRCm39) C485W probably damaging Het
Ecel1 G A 1: 87,076,449 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Elmo2 A T 2: 165,137,209 (GRCm39) C562S probably benign Het
Etl4 T A 2: 20,344,922 (GRCm39) probably null Het
F2r A C 13: 95,740,905 (GRCm39) V210G probably damaging Het
Fam171a1 T A 2: 3,224,546 (GRCm39) V179E probably damaging Het
Fmod G T 1: 133,967,977 (GRCm39) V6F possibly damaging Het
Foxr2 A G X: 151,913,312 (GRCm39) Q61R probably damaging Het
Gabra4 G A 5: 71,729,546 (GRCm39) H76Y probably benign Het
Gck A T 11: 5,859,150 (GRCm39) M139K possibly damaging Het
Gm10192 C G 4: 97,071,345 (GRCm39) S20T probably null Het
Gm44501 T C 17: 40,887,515 (GRCm39) L11P unknown Het
Gm572 T C 4: 148,751,302 (GRCm39) probably null Het
Gnas A G 2: 174,139,882 (GRCm39) K17R possibly damaging Het
Grm2 T A 9: 106,527,865 (GRCm39) S340C probably damaging Het
Gsc T A 12: 104,438,274 (GRCm39) H198L probably damaging Het
H2-Q3 A T 17: 35,578,424 (GRCm39) noncoding transcript Het
H4c1 T C 13: 23,944,935 (GRCm39) D69G probably damaging Het
Hivep3 A G 4: 119,980,131 (GRCm39) E1723G probably damaging Het
Hk3 A T 13: 55,154,405 (GRCm39) L757Q probably damaging Het
Homer2 A T 7: 81,299,311 (GRCm39) D51E probably benign Het
Ier3ip1 T A 18: 77,027,227 (GRCm39) probably benign Het
Itch T A 2: 155,059,897 (GRCm39) probably null Het
Kalrn T A 16: 33,991,700 (GRCm39) Q974L probably damaging Het
Klhl17 A G 4: 156,315,082 (GRCm39) V525A probably benign Het
Klhl9 T C 4: 88,640,182 (GRCm39) K20E probably benign Het
Kmt2a G T 9: 44,732,977 (GRCm39) probably benign Het
Krt17 C A 11: 100,147,305 (GRCm39) V409L probably benign Het
Lmx1b T C 2: 33,454,802 (GRCm39) N322S probably benign Het
Lrrc63 G C 14: 75,363,406 (GRCm39) P242A probably benign Het
Ltk T C 2: 119,583,708 (GRCm39) N256D probably damaging Het
Map3k19 T A 1: 127,745,470 (GRCm39) E1328V probably damaging Het
Map4k2 C T 19: 6,394,033 (GRCm39) A280V probably benign Het
Micall1 C T 15: 79,016,048 (GRCm39) R802* probably null Het
Mmp14 A G 14: 54,673,662 (GRCm39) R109G probably damaging Het
Mmp27 A T 9: 7,581,369 (GRCm39) H544L probably benign Het
Mpeg1 A G 19: 12,440,434 (GRCm39) T631A probably damaging Het
Mpnd A G 17: 56,318,641 (GRCm39) M217V probably benign Het
Mrc2 T C 11: 105,232,034 (GRCm39) V862A probably damaging Het
Mug2 T A 6: 122,058,154 (GRCm39) S1239T probably damaging Het
Myb T A 10: 21,002,137 (GRCm39) M616L probably benign Het
Myo18b A T 5: 113,022,346 (GRCm39) probably benign Het
Myo1c C A 11: 75,560,053 (GRCm39) T703N probably damaging Het
Myt1l T G 12: 29,936,138 (GRCm39) C909G unknown Het
Nbea T C 3: 55,912,776 (GRCm39) S1004G possibly damaging Het
Neb T C 2: 52,186,319 (GRCm39) N918D probably benign Het
Nrtn T C 17: 57,058,636 (GRCm39) T122A probably damaging Het
Nsd3 A T 8: 26,188,939 (GRCm39) S1042C probably damaging Het
Ntmt2 A T 1: 163,530,633 (GRCm39) C269S probably benign Het
Nvl A G 1: 180,945,191 (GRCm39) L461S probably damaging Het
Onecut2 A T 18: 64,473,998 (GRCm39) H183L possibly damaging Het
Or13p5 A C 4: 118,591,885 (GRCm39) H53P probably benign Het
Or2h2 G A 17: 37,396,343 (GRCm39) T238I probably damaging Het
Or4d10 C G 19: 12,051,679 (GRCm39) G106R probably damaging Het
Or52e4 A G 7: 104,705,689 (GRCm39) T79A possibly damaging Het
Or5c1 T G 2: 37,222,601 (GRCm39) F281V probably damaging Het
Or6c1b A C 10: 129,273,248 (GRCm39) D189A possibly damaging Het
Or6z5 A T 7: 6,477,612 (GRCm39) I168F probably damaging Het
Pcdhb21 G T 18: 37,648,130 (GRCm39) V420F possibly damaging Het
Pcdhb9 G A 18: 37,536,286 (GRCm39) G760D probably benign Het
Pglyrp2 G A 17: 32,637,771 (GRCm39) P86S probably benign Het
Phyhip T A 14: 70,704,765 (GRCm39) V328E probably damaging Het
Pitpnb A T 5: 111,530,862 (GRCm39) K218N possibly damaging Het
Pitrm1 A G 13: 6,628,596 (GRCm39) D963G probably damaging Het
Pmfbp1 A G 8: 110,258,792 (GRCm39) Y699C probably damaging Het
Pmpcb T A 5: 21,945,660 (GRCm39) probably benign Het
Polg A T 7: 79,114,353 (GRCm39) W203R probably damaging Het
Pramel22 A G 4: 143,380,971 (GRCm39) S351P probably benign Het
Prss41 A T 17: 24,055,977 (GRCm39) M252K probably benign Het
Prss46 A T 9: 110,673,618 (GRCm39) M1L possibly damaging Het
Rimklb T C 6: 122,441,051 (GRCm39) probably null Het
Rngtt T C 4: 33,500,335 (GRCm39) I556T unknown Het
Rock1 A C 18: 10,122,698 (GRCm39) D374E probably benign Het
Rspry1 C A 8: 95,385,417 (GRCm39) H450N probably benign Het
Rusc2 T C 4: 43,423,942 (GRCm39) V1032A probably damaging Het
Sacs A G 14: 61,449,647 (GRCm39) R3898G probably damaging Het
Scnn1b A T 7: 121,502,110 (GRCm39) H256L probably benign Het
Sh3gl2 T A 4: 85,297,494 (GRCm39) H157Q probably benign Het
Sipa1l1 C A 12: 82,389,107 (GRCm39) S444R probably damaging Het
Sntg1 T A 1: 8,433,818 (GRCm39) I478F probably damaging Het
Spata31e2 A G 1: 26,722,628 (GRCm39) Y851H probably benign Het
Sptb G T 12: 76,655,811 (GRCm39) L1424M probably benign Het
Sry T A Y: 2,663,105 (GRCm39) H185L unknown Het
Stox2 T G 8: 47,656,198 (GRCm39) T93P probably damaging Het
Tatdn2 T A 6: 113,681,566 (GRCm39) F472Y possibly damaging Het
Tefm A T 11: 80,031,185 (GRCm39) V17D possibly damaging Het
Tekt2 G T 4: 126,218,460 (GRCm39) T70N probably benign Het
Ticam1 T C 17: 56,578,642 (GRCm39) D151G probably damaging Het
Tmem63c A G 12: 87,136,139 (GRCm39) E785G probably damaging Het
Tnmd A T X: 132,765,551 (GRCm39) N219I probably benign Het
Ttc14 T A 3: 33,861,024 (GRCm39) L407* probably null Het
Ttll7 T C 3: 146,599,932 (GRCm39) M1T probably null Het
Ttn T A 2: 76,746,835 (GRCm39) probably null Het
Uchl1 T C 5: 66,833,780 (GRCm39) M12T probably benign Het
Uggt2 A T 14: 119,315,062 (GRCm39) probably null Het
Uggt2 T C 14: 119,286,665 (GRCm39) T224A probably damaging Het
Umodl1 A G 17: 31,218,175 (GRCm39) E1254G probably damaging Het
Unc5d A G 8: 29,156,927 (GRCm39) F773L probably benign Het
Unc80 C A 1: 66,683,606 (GRCm39) P2216Q probably damaging Het
Usp40 T A 1: 87,913,923 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,421 (GRCm39) M209K probably damaging Het
Vmn2r44 A T 7: 8,380,985 (GRCm39) W303R probably benign Het
Wnk2 G A 13: 49,224,478 (GRCm39) R268C probably damaging Het
Wnt2 T C 6: 18,023,125 (GRCm39) K175E possibly damaging Het
Xkr6 T C 14: 64,056,953 (GRCm39) V288A unknown Het
Zfp125 A G 12: 20,950,459 (GRCm39) noncoding transcript Het
Zfp512b A C 2: 181,228,856 (GRCm39) V703G probably damaging Het
Zglp1 A T 9: 20,973,957 (GRCm39) I243N probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign Het
Other mutations in Kirrel3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Kirrel3 APN 9 34,926,549 (GRCm39) critical splice acceptor site probably null
IGL01369:Kirrel3 APN 9 34,927,737 (GRCm39) missense probably benign 0.07
IGL01837:Kirrel3 APN 9 34,946,224 (GRCm39) missense probably damaging 1.00
IGL01950:Kirrel3 APN 9 34,939,625 (GRCm39) splice site probably benign
IGL01973:Kirrel3 APN 9 34,927,764 (GRCm39) missense probably damaging 1.00
IGL01994:Kirrel3 APN 9 34,931,429 (GRCm39) missense possibly damaging 0.71
IGL03184:Kirrel3 APN 9 34,919,052 (GRCm39) missense probably damaging 1.00
R0033:Kirrel3 UTSW 9 34,912,259 (GRCm39) missense probably benign 0.06
R0033:Kirrel3 UTSW 9 34,912,259 (GRCm39) missense probably benign 0.06
R0038:Kirrel3 UTSW 9 34,823,066 (GRCm39) splice site probably null
R0038:Kirrel3 UTSW 9 34,823,066 (GRCm39) splice site probably null
R0390:Kirrel3 UTSW 9 34,931,459 (GRCm39) missense probably damaging 1.00
R0627:Kirrel3 UTSW 9 34,946,470 (GRCm39) missense probably damaging 1.00
R0786:Kirrel3 UTSW 9 34,946,161 (GRCm39) missense probably damaging 1.00
R0920:Kirrel3 UTSW 9 34,939,648 (GRCm39) missense probably damaging 1.00
R0962:Kirrel3 UTSW 9 34,912,293 (GRCm39) missense possibly damaging 0.95
R1716:Kirrel3 UTSW 9 34,934,843 (GRCm39) missense probably damaging 1.00
R2010:Kirrel3 UTSW 9 34,850,494 (GRCm39) missense probably damaging 1.00
R4289:Kirrel3 UTSW 9 34,934,769 (GRCm39) missense probably benign 0.44
R4970:Kirrel3 UTSW 9 34,855,735 (GRCm39) missense possibly damaging 0.88
R5121:Kirrel3 UTSW 9 34,924,601 (GRCm39) missense probably damaging 1.00
R5368:Kirrel3 UTSW 9 34,919,034 (GRCm39) missense probably damaging 1.00
R5572:Kirrel3 UTSW 9 34,912,244 (GRCm39) missense probably damaging 1.00
R5707:Kirrel3 UTSW 9 34,924,572 (GRCm39) missense probably damaging 1.00
R6302:Kirrel3 UTSW 9 34,919,045 (GRCm39) missense probably damaging 1.00
R6449:Kirrel3 UTSW 9 34,902,269 (GRCm39) missense probably benign
R6908:Kirrel3 UTSW 9 34,924,697 (GRCm39) missense possibly damaging 0.86
R6967:Kirrel3 UTSW 9 34,946,202 (GRCm39) missense probably damaging 1.00
R7578:Kirrel3 UTSW 9 34,850,408 (GRCm39) missense probably damaging 1.00
R7861:Kirrel3 UTSW 9 34,931,419 (GRCm39) missense possibly damaging 0.79
R8094:Kirrel3 UTSW 9 34,946,460 (GRCm39) missense probably damaging 1.00
R8383:Kirrel3 UTSW 9 34,941,179 (GRCm39) missense probably null 0.89
R8494:Kirrel3 UTSW 9 34,902,341 (GRCm39) missense probably benign 0.03
R8878:Kirrel3 UTSW 9 34,850,561 (GRCm39) splice site probably benign
R8955:Kirrel3 UTSW 9 34,855,738 (GRCm39) missense probably damaging 1.00
R9140:Kirrel3 UTSW 9 34,924,596 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCTCGACCATGGCTCAAAG -3'
(R):5'- AGGAGATGCTGTAACACGC -3'

Sequencing Primer
(F):5'- GGCTCAAAGGCAATCACCTG -3'
(R):5'- GAGTCTAGCTATAGTCTCAGCCAC -3'
Posted On 2016-03-17