Incidental Mutation 'R5149:Nlgn2'
ID395257
Institutional Source Beutler Lab
Gene Symbol Nlgn2
Ensembl Gene ENSMUSG00000051790
Gene Nameneuroligin 2
SynonymsNL2
MMRRC Submission 042732-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5149 (G1)
Quality Score151
Status Not validated
Chromosome11
Chromosomal Location69823122-69837784 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 69825390 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 775 (R775H)
Ref Sequence ENSEMBL: ENSMUSP00000104274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056484] [ENSMUST00000108634]
Predicted Effect probably benign
Transcript: ENSMUST00000045771
SMART Domains Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

DomainStartEndE-ValueType
Pfam:Spem1 12 196 3.7e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000056484
AA Change: R775H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790
AA Change: R775H

DomainStartEndE-ValueType
Pfam:COesterase 31 601 1.6e-199 PFAM
Pfam:Abhydrolase_3 180 372 4.8e-9 PFAM
low complexity region 630 652 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
low complexity region 702 712 N/A INTRINSIC
low complexity region 713 731 N/A INTRINSIC
low complexity region 782 823 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108634
AA Change: R775H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790
AA Change: R775H

DomainStartEndE-ValueType
Pfam:COesterase 30 601 2e-186 PFAM
Pfam:Abhydrolase_3 180 327 3.3e-9 PFAM
low complexity region 630 652 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
low complexity region 702 712 N/A INTRINSIC
low complexity region 713 731 N/A INTRINSIC
low complexity region 782 823 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139893
SMART Domains Protein: ENSMUSP00000120428
Gene: ENSMUSG00000051790

DomainStartEndE-ValueType
Pfam:COesterase 1 262 9.3e-120 PFAM
Pfam:Abhydrolase_3 104 250 2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140477
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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 a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg A G 16: 22,898,923 T245A probably benign Het
Akr1c13 G T 13: 4,194,169 V74L probably benign Het
Amt G A 9: 108,301,451 V389I possibly damaging Het
Ankrd26 T C 6: 118,558,996 N159S probably benign Het
Atp1a4 A G 1: 172,232,005 I840T probably damaging Het
Capn1 T C 19: 5,990,334 probably null Het
Col27a1 T C 4: 63,331,427 probably benign Het
Cyp2j5 A G 4: 96,659,507 L166P probably damaging Het
D6Ertd527e C G 6: 87,111,524 T223S unknown Het
Dchs1 G A 7: 105,755,658 T2559I probably damaging Het
Dnah12 C A 14: 26,850,926 S258* probably null Het
Dpep1 A T 8: 123,200,438 T309S probably benign Het
Epha5 A T 5: 84,150,358 F559L probably damaging Het
Gm3409 T C 5: 146,537,761 I29T possibly damaging Het
Grhl1 CAGAAGAAG CAGAAG 12: 24,612,179 probably benign Het
Gtf3c1 G T 7: 125,668,037 R941S probably damaging Het
Helb C T 10: 120,105,743 E347K probably benign Het
Ighv14-3 A G 12: 114,060,090 S36P probably damaging Het
Klrb1c T A 6: 128,783,707 M211L probably benign Het
Larp7 C T 3: 127,540,811 E510K probably damaging Het
Lrig1 C T 6: 94,628,044 R190Q possibly damaging Het
March6 A G 15: 31,461,994 S863P possibly damaging Het
Mgst2 A G 3: 51,682,537 N132S probably benign Het
Olfr1138 A T 2: 87,737,405 S306R probably benign Het
Olfr135 A C 17: 38,208,317 E24A possibly damaging Het
Olfr804 T C 10: 129,705,508 V210A probably benign Het
Papln A T 12: 83,771,882 probably null Het
Poteg C T 8: 27,481,643 S395L possibly damaging Het
Prox1 T A 1: 190,147,053 I643F possibly damaging Het
Sept4 A G 11: 87,589,245 E211G probably damaging Het
Serpinb6e A G 13: 33,832,485 F422L probably damaging Het
Slc22a19 A G 19: 7,711,138 L19P probably damaging Het
Snf8 G T 11: 96,043,460 A136S probably benign Het
Sparcl1 C T 5: 104,085,763 M573I probably damaging Het
Spta1 A G 1: 174,247,434 T2409A probably damaging Het
Tat A G 8: 109,996,818 S313G probably benign Het
Tep1 A T 14: 50,837,398 C1785* probably null Het
Tmem132b A G 5: 125,622,925 S176G probably damaging Het
Tnfrsf8 T C 4: 145,303,105 R42G possibly damaging Het
Trio T C 15: 27,754,029 D2124G possibly damaging Het
Trp53bp1 A T 2: 121,216,117 D1067E probably benign Het
Tspan13 T C 12: 36,024,066 S24G probably damaging Het
Zdbf2 T C 1: 63,304,903 S814P possibly damaging Het
Zfp213 C A 17: 23,561,399 R49L probably damaging Het
Other mutations in Nlgn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Nlgn2 APN 11 69825849 missense possibly damaging 0.78
IGL02649:Nlgn2 APN 11 69825802 missense probably benign 0.04
IGL02887:Nlgn2 APN 11 69827254 missense probably benign 0.24
IGL02904:Nlgn2 APN 11 69825840 missense possibly damaging 0.91
P0040:Nlgn2 UTSW 11 69825730 missense probably benign 0.01
R0800:Nlgn2 UTSW 11 69825997 missense possibly damaging 0.92
R1901:Nlgn2 UTSW 11 69825900 missense probably damaging 1.00
R1960:Nlgn2 UTSW 11 69827310 missense probably damaging 1.00
R1997:Nlgn2 UTSW 11 69828050 missense probably damaging 1.00
R2020:Nlgn2 UTSW 11 69828441 missense probably damaging 1.00
R2426:Nlgn2 UTSW 11 69827086 missense probably damaging 1.00
R3768:Nlgn2 UTSW 11 69828404 missense possibly damaging 0.95
R4584:Nlgn2 UTSW 11 69834278 missense possibly damaging 0.48
R4609:Nlgn2 UTSW 11 69834086 missense probably damaging 0.99
R5028:Nlgn2 UTSW 11 69827737 missense probably benign 0.11
R5141:Nlgn2 UTSW 11 69825390 missense probably damaging 1.00
R5150:Nlgn2 UTSW 11 69825390 missense probably damaging 1.00
R5458:Nlgn2 UTSW 11 69827900 missense possibly damaging 0.87
R5930:Nlgn2 UTSW 11 69834149 missense probably damaging 1.00
R6823:Nlgn2 UTSW 11 69825924 missense probably damaging 1.00
R7096:Nlgn2 UTSW 11 69825690 missense probably damaging 1.00
R7310:Nlgn2 UTSW 11 69830583 missense possibly damaging 0.64
R7318:Nlgn2 UTSW 11 69825969 missense probably damaging 1.00
R7643:Nlgn2 UTSW 11 69827885 missense probably damaging 1.00
R7912:Nlgn2 UTSW 11 69825934 missense probably damaging 1.00
R7993:Nlgn2 UTSW 11 69825934 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTGACAAATCCACGGGG -3'
(R):5'- CTCTATTACAAGCGGGACCG -3'

Sequencing Primer
(F):5'- AAAGCCCGGTGCCAAGTC -3'
(R):5'- TTAGCCCACCAGGAGGCTC -3'
Posted On2016-06-21