Incidental Mutation 'R0257:Nrxn2'
ID 34816
Institutional Source Beutler Lab
Gene Symbol Nrxn2
Ensembl Gene ENSMUSG00000033768
Gene Name neurexin II
Synonyms neurexin II alpha, neurexin II beta, 6430591O13Rik
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0257 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6468786-6583247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6540728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 894 (I894V)
Ref Sequence ENSEMBL: ENSMUSP00000109089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166]
AlphaFold E9Q7X7
Predicted Effect possibly damaging
Transcript: ENSMUST00000077182
AA Change: I886V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: I886V

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
low complexity region 268 276 N/A INTRINSIC
LamG 310 444 1.18e-33 SMART
LamG 498 651 1.51e-40 SMART
EGF 678 712 8.91e-3 SMART
LamG 737 875 4.91e-22 SMART
LamG 923 1059 1.08e-41 SMART
EGF 1084 1118 1.91e1 SMART
LamG 1146 1303 4.48e-16 SMART
low complexity region 1332 1362 N/A INTRINSIC
low complexity region 1430 1445 N/A INTRINSIC
4.1m 1448 1466 3.75e-4 SMART
low complexity region 1480 1499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113461
AA Change: I861V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: I861V

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
LamG 286 428 8.4e-30 SMART
LamG 482 635 1.51e-40 SMART
EGF 662 696 8.91e-3 SMART
LamG 721 850 2.36e-24 SMART
LamG 898 1034 1.08e-41 SMART
EGF 1059 1093 1.91e1 SMART
LamG 1121 1248 1.26e-19 SMART
low complexity region 1277 1307 N/A INTRINSIC
low complexity region 1363 1384 N/A INTRINSIC
low complexity region 1567 1582 N/A INTRINSIC
4.1m 1585 1603 3.75e-4 SMART
low complexity region 1617 1636 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113462
AA Change: I894V

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: I894V

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
low complexity region 268 276 N/A INTRINSIC
LamG 310 452 8.4e-30 SMART
LamG 506 659 1.51e-40 SMART
EGF 686 720 8.91e-3 SMART
LamG 745 883 4.91e-22 SMART
LamG 931 1067 1.08e-41 SMART
EGF 1092 1126 1.91e1 SMART
LamG 1154 1311 4.48e-16 SMART
low complexity region 1340 1370 N/A INTRINSIC
low complexity region 1426 1447 N/A INTRINSIC
low complexity region 1630 1645 N/A INTRINSIC
4.1m 1648 1666 3.75e-4 SMART
low complexity region 1680 1699 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137166
AA Change: I901V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: I901V

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
LamG 49 187 1.67e-33 SMART
EGF 205 242 1.73e1 SMART
low complexity region 268 276 N/A INTRINSIC
LamG 310 459 8.87e-29 SMART
LamG 513 666 1.51e-40 SMART
EGF 693 727 8.91e-3 SMART
LamG 752 890 4.91e-22 SMART
LamG 938 1074 1.08e-41 SMART
EGF 1099 1133 1.91e1 SMART
LamG 1161 1318 4.48e-16 SMART
low complexity region 1347 1377 N/A INTRINSIC
low complexity region 1433 1454 N/A INTRINSIC
low complexity region 1637 1652 N/A INTRINSIC
4.1m 1655 1673 3.75e-4 SMART
low complexity region 1687 1706 N/A INTRINSIC
Meta Mutation Damage Score 0.1289 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are generally non-viable; surviving homozygotes show a 30-40% decrease in body weight and their inhibitory postsynaptic currents (IPSCs) are decreased in cortical slice cultures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,401,107 (GRCm39) E171D probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgre5 T A 8: 84,458,624 (GRCm39) H134L possibly damaging Het
Ahsg A T 16: 22,717,790 (GRCm39) M256L probably benign Het
Alk A T 17: 72,910,490 (GRCm39) L72Q probably damaging Het
Ano2 C A 6: 125,857,676 (GRCm39) A505E probably benign Het
Bcas3 A G 11: 85,712,865 (GRCm39) K908E probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Car2 C G 3: 14,965,037 (GRCm39) H224D probably benign Het
Cfh T C 1: 140,071,773 (GRCm39) D287G probably benign Het
Disp3 G T 4: 148,335,211 (GRCm39) N944K possibly damaging Het
Dlg1 A G 16: 31,661,671 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,708,123 (GRCm39) E1281G probably damaging Het
Dmxl1 T A 18: 50,088,870 (GRCm39) probably benign Het
Dtx3 T C 10: 127,028,761 (GRCm39) D159G probably benign Het
Ets2 T A 16: 95,513,245 (GRCm39) C140* probably null Het
Fbf1 T C 11: 116,045,917 (GRCm39) I226V probably benign Het
Fgd6 T A 10: 93,879,777 (GRCm39) H210Q probably benign Het
Fktn A G 4: 53,734,898 (GRCm39) T179A probably benign Het
Galnt10 T C 11: 57,671,904 (GRCm39) M398T probably damaging Het
Grk5 G T 19: 61,065,068 (GRCm39) probably benign Het
Gse1 A G 8: 121,299,073 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,259,176 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,861,052 (GRCm39) probably null Het
Lama4 T C 10: 38,970,880 (GRCm39) probably benign Het
Luzp2 A G 7: 54,899,194 (GRCm39) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm39) V1053D probably damaging Het
Mrm1 A C 11: 84,705,649 (GRCm39) probably benign Het
Msh5 G C 17: 35,251,840 (GRCm39) R407G probably damaging Het
Myo1c A T 11: 75,556,342 (GRCm39) probably null Het
Nek5 T C 8: 22,613,688 (GRCm39) probably benign Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Pde4a C T 9: 21,103,717 (GRCm39) P175L probably damaging Het
Pip5k1c C A 10: 81,150,930 (GRCm39) A628E possibly damaging Het
Piwil2 C T 14: 70,660,080 (GRCm39) S139N probably benign Het
Prob1 T C 18: 35,786,092 (GRCm39) K721E possibly damaging Het
Rps6ka2 C A 17: 7,495,382 (GRCm39) S57Y probably damaging Het
Rxfp1 C T 3: 79,589,842 (GRCm39) V100M possibly damaging Het
Serpinb9e A T 13: 33,441,664 (GRCm39) M199L probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a8 G A 15: 100,682,761 (GRCm39) probably benign Het
Sned1 A T 1: 93,192,819 (GRCm39) S369C possibly damaging Het
St18 T A 1: 6,890,186 (GRCm39) F539L probably benign Het
Stam2 C T 2: 52,584,794 (GRCm39) G500D possibly damaging Het
Stx16 G A 2: 173,938,754 (GRCm39) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm39) S211L possibly damaging Het
Tcf12 C T 9: 71,765,904 (GRCm39) S512N probably benign Het
Tiam2 T C 17: 3,501,088 (GRCm39) V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 (GRCm39) A131V probably damaging Het
Tnrc6b C A 15: 80,778,556 (GRCm39) N1176K possibly damaging Het
Trrap C T 5: 144,741,045 (GRCm39) S1264L probably benign Het
Ttn T A 2: 76,640,775 (GRCm39) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,249,889 (GRCm39) T794I probably damaging Het
Vmn2r52 T A 7: 9,904,982 (GRCm39) R286* probably null Het
Vps53 A T 11: 76,068,211 (GRCm39) probably benign Het
Wdr18 A G 10: 79,796,953 (GRCm39) probably benign Het
Wdr31 A G 4: 62,378,755 (GRCm39) probably null Het
Zfp458 T A 13: 67,407,706 (GRCm39) K47* probably null Het
Zfp983 A G 17: 21,880,356 (GRCm39) T95A probably benign Het
Other mutations in Nrxn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Nrxn2 APN 19 6,523,623 (GRCm39) missense possibly damaging 0.84
IGL01020:Nrxn2 APN 19 6,543,473 (GRCm39) missense probably benign 0.02
IGL01064:Nrxn2 APN 19 6,567,083 (GRCm39) missense probably damaging 0.97
IGL01561:Nrxn2 APN 19 6,540,172 (GRCm39) missense probably damaging 1.00
IGL01759:Nrxn2 APN 19 6,559,959 (GRCm39) missense probably damaging 1.00
IGL02071:Nrxn2 APN 19 6,531,783 (GRCm39) missense probably damaging 1.00
IGL02085:Nrxn2 APN 19 6,542,898 (GRCm39) missense possibly damaging 0.83
IGL02132:Nrxn2 APN 19 6,522,306 (GRCm39) missense probably damaging 1.00
IGL02476:Nrxn2 APN 19 6,505,015 (GRCm39) missense probably damaging 1.00
IGL02605:Nrxn2 APN 19 6,500,610 (GRCm39) missense probably benign 0.02
IGL03123:Nrxn2 APN 19 6,531,767 (GRCm39) missense probably damaging 0.98
IGL03288:Nrxn2 APN 19 6,540,726 (GRCm39) missense probably damaging 1.00
PIT4687001:Nrxn2 UTSW 19 6,531,338 (GRCm39) missense probably benign 0.06
R0019:Nrxn2 UTSW 19 6,559,987 (GRCm39) splice site probably benign
R0305:Nrxn2 UTSW 19 6,569,313 (GRCm39) missense probably damaging 1.00
R0453:Nrxn2 UTSW 19 6,541,551 (GRCm39) missense probably damaging 1.00
R0512:Nrxn2 UTSW 19 6,567,228 (GRCm39) missense probably damaging 1.00
R0539:Nrxn2 UTSW 19 6,543,434 (GRCm39) missense probably damaging 0.99
R0571:Nrxn2 UTSW 19 6,523,563 (GRCm39) missense probably damaging 1.00
R1373:Nrxn2 UTSW 19 6,522,331 (GRCm39) missense probably damaging 1.00
R1434:Nrxn2 UTSW 19 6,493,642 (GRCm39) splice site probably null
R1454:Nrxn2 UTSW 19 6,531,476 (GRCm39) missense probably damaging 0.98
R1671:Nrxn2 UTSW 19 6,523,780 (GRCm39) missense probably damaging 1.00
R1692:Nrxn2 UTSW 19 6,569,298 (GRCm39) missense probably damaging 1.00
R1858:Nrxn2 UTSW 19 6,538,825 (GRCm39) missense probably benign 0.01
R1859:Nrxn2 UTSW 19 6,538,825 (GRCm39) missense probably benign 0.01
R2153:Nrxn2 UTSW 19 6,554,944 (GRCm39) missense probably damaging 1.00
R2196:Nrxn2 UTSW 19 6,540,139 (GRCm39) missense probably damaging 1.00
R2209:Nrxn2 UTSW 19 6,543,037 (GRCm39) missense probably benign 0.01
R2278:Nrxn2 UTSW 19 6,531,883 (GRCm39) missense probably damaging 1.00
R2441:Nrxn2 UTSW 19 6,478,331 (GRCm39) missense probably damaging 1.00
R3897:Nrxn2 UTSW 19 6,569,287 (GRCm39) missense probably damaging 1.00
R3943:Nrxn2 UTSW 19 6,523,365 (GRCm39) missense probably damaging 1.00
R4091:Nrxn2 UTSW 19 6,523,444 (GRCm39) missense probably damaging 1.00
R4162:Nrxn2 UTSW 19 6,582,173 (GRCm39) missense probably damaging 1.00
R4164:Nrxn2 UTSW 19 6,582,173 (GRCm39) missense probably damaging 1.00
R4495:Nrxn2 UTSW 19 6,581,429 (GRCm39) missense probably benign 0.05
R4599:Nrxn2 UTSW 19 6,505,282 (GRCm39) missense probably damaging 0.98
R4735:Nrxn2 UTSW 19 6,548,484 (GRCm39) missense possibly damaging 0.86
R4757:Nrxn2 UTSW 19 6,559,851 (GRCm39) missense probably damaging 1.00
R4890:Nrxn2 UTSW 19 6,498,308 (GRCm39) missense possibly damaging 0.90
R5052:Nrxn2 UTSW 19 6,505,234 (GRCm39) missense probably damaging 1.00
R5311:Nrxn2 UTSW 19 6,581,428 (GRCm39) missense probably benign 0.05
R5330:Nrxn2 UTSW 19 6,540,111 (GRCm39) missense probably damaging 0.96
R5331:Nrxn2 UTSW 19 6,540,111 (GRCm39) missense probably damaging 0.96
R5530:Nrxn2 UTSW 19 6,548,397 (GRCm39) missense possibly damaging 0.93
R5556:Nrxn2 UTSW 19 6,540,121 (GRCm39) missense probably damaging 1.00
R5763:Nrxn2 UTSW 19 6,581,369 (GRCm39) missense probably benign 0.15
R5829:Nrxn2 UTSW 19 6,540,879 (GRCm39) missense probably benign 0.03
R5988:Nrxn2 UTSW 19 6,542,901 (GRCm39) missense possibly damaging 0.83
R6003:Nrxn2 UTSW 19 6,548,358 (GRCm39) missense possibly damaging 0.93
R6032:Nrxn2 UTSW 19 6,567,162 (GRCm39) missense probably damaging 1.00
R6032:Nrxn2 UTSW 19 6,567,162 (GRCm39) missense probably damaging 1.00
R6288:Nrxn2 UTSW 19 6,540,591 (GRCm39) missense probably damaging 1.00
R6334:Nrxn2 UTSW 19 6,581,322 (GRCm39) splice site probably null
R6373:Nrxn2 UTSW 19 6,559,860 (GRCm39) missense probably damaging 1.00
R6397:Nrxn2 UTSW 19 6,582,152 (GRCm39) missense probably damaging 1.00
R6669:Nrxn2 UTSW 19 6,531,221 (GRCm39) missense probably damaging 1.00
R6980:Nrxn2 UTSW 19 6,500,609 (GRCm39) missense probably benign 0.04
R6985:Nrxn2 UTSW 19 6,531,275 (GRCm39) missense probably damaging 1.00
R7184:Nrxn2 UTSW 19 6,540,582 (GRCm39) missense probably damaging 1.00
R7361:Nrxn2 UTSW 19 6,567,112 (GRCm39) missense probably benign 0.00
R7576:Nrxn2 UTSW 19 6,581,540 (GRCm39) nonsense probably null
R7604:Nrxn2 UTSW 19 6,581,991 (GRCm39) missense probably damaging 1.00
R7631:Nrxn2 UTSW 19 6,531,825 (GRCm39) missense possibly damaging 0.83
R7768:Nrxn2 UTSW 19 6,531,409 (GRCm39) missense possibly damaging 0.69
R7805:Nrxn2 UTSW 19 6,581,736 (GRCm39) missense probably benign
R7896:Nrxn2 UTSW 19 6,582,083 (GRCm39) missense possibly damaging 0.89
R7998:Nrxn2 UTSW 19 6,559,905 (GRCm39) missense probably damaging 0.98
R8383:Nrxn2 UTSW 19 6,522,343 (GRCm39) missense probably damaging 1.00
R8505:Nrxn2 UTSW 19 6,540,163 (GRCm39) missense probably damaging 1.00
R8843:Nrxn2 UTSW 19 6,555,057 (GRCm39) missense probably damaging 1.00
R8881:Nrxn2 UTSW 19 6,554,920 (GRCm39) missense probably benign 0.07
R9086:Nrxn2 UTSW 19 6,540,108 (GRCm39) missense probably damaging 1.00
R9139:Nrxn2 UTSW 19 6,498,299 (GRCm39) missense probably benign 0.02
R9420:Nrxn2 UTSW 19 6,581,931 (GRCm39) missense probably benign 0.40
R9445:Nrxn2 UTSW 19 6,522,448 (GRCm39) missense probably damaging 0.99
R9564:Nrxn2 UTSW 19 6,559,887 (GRCm39) missense probably damaging 1.00
R9609:Nrxn2 UTSW 19 6,540,203 (GRCm39) missense probably damaging 1.00
R9708:Nrxn2 UTSW 19 6,581,882 (GRCm39) missense probably benign 0.00
R9794:Nrxn2 UTSW 19 6,567,064 (GRCm39) missense possibly damaging 0.48
X0022:Nrxn2 UTSW 19 6,559,947 (GRCm39) missense probably damaging 1.00
Z1177:Nrxn2 UTSW 19 6,548,547 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATCTTTTCCAGGAAGACGAGGCCC -3'
(R):5'- GTTGCCGTTGCCTGAGTTGAAC -3'

Sequencing Primer
(F):5'- GAAGACGAGGCCCTGTTC -3'
(R):5'- TTGAACAGCAGAAGTCCATCTGG -3'
Posted On 2013-05-09