Incidental Mutation 'R2196:Nrxn2'
ID 238390
Institutional Source Beutler Lab
Gene Symbol Nrxn2
Ensembl Gene ENSMUSG00000033768
Gene Name neurexin II
Synonyms neurexin II alpha, neurexin II beta, 6430591O13Rik
MMRRC Submission 040198-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2196 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6468786-6583247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6540139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 820 (D820V)
Ref Sequence ENSEMBL: ENSMUSP00000119762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166]
AlphaFold E9Q7X7
Predicted Effect probably damaging
Transcript: ENSMUST00000077182
AA Change: D805V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
AA Change: D805V

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 damaging
Transcript: ENSMUST00000113461
AA Change: D780V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768
AA Change: D780V

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 damaging
Transcript: ENSMUST00000113462
AA Change: D813V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
AA Change: D813V

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 damaging
Transcript: ENSMUST00000137166
AA Change: D820V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
AA Change: D820V

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Acvr2a A T 2: 48,760,324 (GRCm39) T27S possibly damaging Het
Ankhd1 T A 18: 36,781,432 (GRCm39) N2161K probably damaging Het
Apba3 A G 10: 81,107,542 (GRCm39) Y350C probably damaging Het
Bnipl T A 3: 95,157,181 (GRCm39) R47S possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Cep112 G A 11: 108,461,187 (GRCm39) E329K probably damaging Het
Cep55 T A 19: 38,057,558 (GRCm39) Y187N probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Csad T C 15: 102,096,028 (GRCm39) N142D probably benign Het
Dars1 A T 1: 128,306,595 (GRCm39) I195N probably damaging Het
Dmxl1 T A 18: 50,050,698 (GRCm39) L2454Q probably benign Het
Emc1 A T 4: 139,093,841 (GRCm39) E650D probably benign Het
Enam A G 5: 88,650,603 (GRCm39) D704G probably damaging Het
Fat1 T A 8: 45,477,683 (GRCm39) I2220N probably damaging Het
Fat4 T C 3: 39,035,566 (GRCm39) S3073P probably benign Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Gcsh G A 8: 117,715,909 (GRCm39) T58M possibly damaging Het
Ghrhr T C 6: 55,356,726 (GRCm39) Y108H probably damaging Het
Gm5431 A T 11: 48,780,058 (GRCm39) I566N probably damaging Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Grin2c G T 11: 115,141,492 (GRCm39) S875R probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Krt87 T C 15: 101,336,314 (GRCm39) E113G probably damaging Het
Map4 A G 9: 109,900,116 (GRCm39) E934G probably damaging Het
Mkx A G 18: 7,000,675 (GRCm39) L89P probably damaging Het
Myo15a T A 11: 60,400,847 (GRCm39) Y2982* probably null Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nom1 A G 5: 29,641,019 (GRCm39) D353G probably benign Het
Notch1 A T 2: 26,353,816 (GRCm39) L1937* probably null Het
Nup210 A T 6: 91,032,226 (GRCm39) N47K probably benign Het
Or1j12 T A 2: 36,342,600 (GRCm39) M1K probably null Het
Or4p21 G A 2: 88,277,054 (GRCm39) T76I probably benign Het
Or6d14 A T 6: 116,533,578 (GRCm39) Q64L probably damaging Het
Pcolce2 A T 9: 95,576,742 (GRCm39) I338F probably damaging Het
Pkd1 T C 17: 24,799,046 (GRCm39) M2755T possibly damaging Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Rab3a T C 8: 71,209,872 (GRCm39) S51P probably benign Het
Scn10a G A 9: 119,438,070 (GRCm39) A1933V probably benign Het
Serpina1c T A 12: 103,862,370 (GRCm39) Y315F probably damaging Het
Slc29a4 A C 5: 142,698,650 (GRCm39) I104L possibly damaging Het
Spag16 G A 1: 69,897,681 (GRCm39) V144I possibly damaging Het
Spata22 A G 11: 73,236,660 (GRCm39) K322R probably benign Het
Sult2a8 T A 7: 14,161,778 (GRCm39) I23L probably benign Het
Thoc1 T A 18: 9,986,300 (GRCm39) V344D probably damaging Het
Tnn G C 1: 159,924,798 (GRCm39) Y1185* probably null Het
Trpc4 A G 3: 54,209,614 (GRCm39) I660V probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Usp4 A G 9: 108,250,885 (GRCm39) E531G probably benign Het
Vmn2r93 C T 17: 18,525,428 (GRCm39) S362L probably damaging Het
Zfhx3 G T 8: 109,526,885 (GRCm39) E927D probably damaging Het
Zfp644 A T 5: 106,786,469 (GRCm39) M1K probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R 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
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'- GTAGAAGATTTCCCTGCATGCC -3'
(R):5'- TGAAATAGTCCCTGGGGTCC -3'

Sequencing Primer
(F):5'- TCCAGGTTCGAGGCAAGG -3'
(R):5'- GGTCCAGACCCATAATAATAACTTC -3'
Posted On 2014-10-02