Incidental Mutation 'R4890:Nrxn2'
ID 377290
Institutional Source Beutler Lab
Gene Symbol Nrxn2
Ensembl Gene ENSMUSG00000033768
Gene Name neurexin II
Synonyms neurexin II alpha, neurexin II beta, 6430591O13Rik
MMRRC Submission 042495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4890 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6468786-6583247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6498308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 258 (S258C)
Ref Sequence ENSEMBL: ENSMUSP00000119762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166] [ENSMUST00000137821]
AlphaFold E9Q7X7
Predicted Effect probably benign
Transcript: ENSMUST00000077182
AA Change: S258C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: S258C

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: S258C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: S258C

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 probably benign
Transcript: ENSMUST00000113462
AA Change: S258C

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: S258C

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 noncoding transcript
Transcript: ENSMUST00000124815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128272
Predicted Effect possibly damaging
Transcript: ENSMUST00000137166
AA Change: S258C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: S258C

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
Predicted Effect probably benign
Transcript: ENSMUST00000137821
SMART Domains Protein: ENSMUSP00000122920
Gene: ENSMUSG00000033768

DomainStartEndE-ValueType
EGF 6 43 1.73e1 SMART
low complexity region 59 67 N/A INTRINSIC
LamG 101 212 1.63e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157014
Predicted Effect unknown
Transcript: ENSMUST00000155158
AA Change: S18C
SMART Domains Protein: ENSMUSP00000118878
Gene: ENSMUSG00000033768
AA Change: S18C

DomainStartEndE-ValueType
Blast:LamG 2 45 8e-7 BLAST
LamG 71 205 1.18e-33 SMART
Meta Mutation Damage Score 0.0693 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 99% (81/82)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T C 1: 130,668,725 (GRCm39) probably benign Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Adgrb3 T C 1: 25,260,908 (GRCm39) N916S probably damaging Het
Aox1 T C 1: 58,373,862 (GRCm39) V841A probably benign Het
Baz2b A T 2: 59,756,383 (GRCm39) M983K probably damaging Het
C2cd2l A G 9: 44,222,430 (GRCm39) F682L probably damaging Het
Ccsap T G 8: 124,572,160 (GRCm39) E114A possibly damaging Het
Cept1 T A 3: 106,413,123 (GRCm39) T201S probably damaging Het
Cfap221 T C 1: 119,883,476 (GRCm39) M232V probably benign Het
Chsy1 A G 7: 65,759,974 (GRCm39) R106G probably benign Het
Cit C T 5: 116,126,182 (GRCm39) probably benign Het
Cldn7 G A 11: 69,857,918 (GRCm39) V42I probably benign Het
Cnnm4 T A 1: 36,511,345 (GRCm39) V191E probably benign Het
Cntf A T 19: 12,741,326 (GRCm39) V178D possibly damaging Het
Ctsz C A 2: 174,270,393 (GRCm39) R263L probably damaging Het
Dclk1 T C 3: 55,429,353 (GRCm39) M407T probably benign Het
Dennd1a A T 2: 38,066,238 (GRCm39) probably benign Het
Dnhd1 A G 7: 105,306,164 (GRCm39) I368V possibly damaging Het
Gak A T 5: 108,728,742 (GRCm39) probably benign Het
Hepacam2 A T 6: 3,487,231 (GRCm39) V42D probably damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Insr T A 8: 3,248,234 (GRCm39) Q437L probably benign Het
Itga8 G A 2: 12,198,102 (GRCm39) probably benign Het
Kansl1 A T 11: 104,233,868 (GRCm39) C732S probably benign Het
Kdsr T C 1: 106,680,964 (GRCm39) K78R probably benign Het
Kif14 T C 1: 136,414,868 (GRCm39) S785P possibly damaging Het
Lbr C A 1: 181,645,133 (GRCm39) L506F probably benign Het
Macf1 C A 4: 123,342,031 (GRCm39) C2720F probably damaging Het
Mapt G A 11: 104,218,975 (GRCm39) D738N probably damaging Het
Mroh9 T C 1: 162,854,093 (GRCm39) Y769C probably damaging Het
Mylk2 A G 2: 152,762,274 (GRCm39) N515S possibly damaging Het
Myorg G A 4: 41,498,877 (GRCm39) T251M probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nudt16l2 A T 9: 105,021,786 (GRCm39) S87T possibly damaging Het
Or52e15 G A 7: 104,645,311 (GRCm39) H267Y probably benign Het
Or5m12 C T 2: 85,735,092 (GRCm39) C102Y possibly damaging Het
Or6c1b C T 10: 129,272,948 (GRCm39) T89I probably benign Het
Or6z5 T A 7: 6,477,848 (GRCm39) C246* probably null Het
Or8c15 G T 9: 38,120,586 (GRCm39) C79F probably benign Het
Osgin2 G A 4: 16,013,739 (GRCm39) probably benign Het
Otud3 G A 4: 138,641,060 (GRCm39) R27W probably damaging Het
Pcare C T 17: 72,059,306 (GRCm39) V124I possibly damaging Het
Pcdhga12 T A 18: 37,901,290 (GRCm39) F707L possibly damaging Het
Pik3r1 T C 13: 101,894,118 (GRCm39) E17G probably damaging Het
Pramel19 A G 4: 101,798,788 (GRCm39) E253G probably damaging Het
Prickle4 AAGAGAGAGAGAGAGA AAGAGAGAGAGAGA 17: 48,000,806 (GRCm39) probably benign Het
Prokr1 G A 6: 87,565,678 (GRCm39) R56W probably benign Het
Ptprz1 G A 6: 23,024,957 (GRCm39) C1731Y probably damaging Het
Rbm15b A T 9: 106,763,028 (GRCm39) F380Y possibly damaging Het
Rfc5 G A 5: 117,524,885 (GRCm39) L56F probably damaging Het
Rhpn2 A T 7: 35,090,228 (GRCm39) M617L probably benign Het
Rusc1 T C 3: 88,995,577 (GRCm39) probably null Het
Sec23ip A G 7: 128,354,634 (GRCm39) N297D probably damaging Het
Sema3c A T 5: 17,880,157 (GRCm39) H259L probably benign Het
Sgsm1 G A 5: 113,428,328 (GRCm39) probably benign Het
Shisal2a A G 4: 108,224,998 (GRCm39) V188A probably benign Het
Sipa1l2 T A 8: 126,218,606 (GRCm39) S244C probably damaging Het
Slc39a5 T C 10: 128,234,316 (GRCm39) I196V probably benign Het
Smim22 G A 16: 4,825,722 (GRCm39) A36T probably damaging Het
Spag6 A G 2: 18,747,588 (GRCm39) I408V probably benign Het
Sult2a5 A G 7: 13,359,311 (GRCm39) I96V probably benign Het
Tmcc2 C A 1: 132,308,517 (GRCm39) A126S probably benign Het
Tsc2 A T 17: 24,819,009 (GRCm39) S1276T probably damaging Het
Ttc21a A G 9: 119,788,103 (GRCm39) S843G probably benign Het
Tubd1 G C 11: 86,443,621 (GRCm39) V110L possibly damaging Het
Ugt1a2 T A 1: 88,128,534 (GRCm39) V59D probably damaging Het
Vmn2r-ps158 A G 7: 42,697,024 (GRCm39) R687G probably damaging Het
Vsig8 T A 1: 172,389,142 (GRCm39) H131Q probably benign Het
Zbtb42 C A 12: 112,646,861 (GRCm39) Y345* probably null Het
Zfp612 T A 8: 110,816,576 (GRCm39) C594* probably null Het
Zfp940 A G 7: 29,544,824 (GRCm39) V361A 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
R0257:Nrxn2 UTSW 19 6,540,728 (GRCm39) missense possibly damaging 0.81
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
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'- TGTCTGTCACAAGTTAACAGGG -3'
(R):5'- GCAGGAGAGTGTACATCTGACATC -3'

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