Incidental Mutation 'R0531:Nrxn3'
ID 49180
Institutional Source Beutler Lab
Gene Symbol Nrxn3
Ensembl Gene ENSMUSG00000066392
Gene Name neurexin III
Synonyms 4933401A11Rik, D12Bwg0831e, neurexin III alpha, neurexin III alpha, neurexin III beta, neurexin III beta, 9330112C09Rik
MMRRC Submission 038723-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0531 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 88689646-90301709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88762112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 53 (F53S)
Ref Sequence ENSEMBL: ENSMUSP00000127407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163134] [ENSMUST00000167103] [ENSMUST00000190626]
AlphaFold Q6P9K9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110138
Predicted Effect possibly damaging
Transcript: ENSMUST00000163134
AA Change: F53S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: F53S

DomainStartEndE-ValueType
LamG 47 184 9.8e-31 SMART
EGF 201 235 8.07e-1 SMART
LamG 279 413 7.19e-38 SMART
LamG 467 619 3.28e-41 SMART
EGF 646 680 4.1e-2 SMART
LamG 705 843 4.87e-26 SMART
LamG 891 1027 7.08e-37 SMART
EGF 1052 1086 1.99e1 SMART
LamG 1114 1271 1.14e-17 SMART
low complexity region 1312 1328 N/A INTRINSIC
low complexity region 1395 1406 N/A INTRINSIC
low complexity region 1499 1514 N/A INTRINSIC
4.1m 1517 1535 4.38e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164072
Predicted Effect probably damaging
Transcript: ENSMUST00000167103
AA Change: F53S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: F53S

DomainStartEndE-ValueType
LamG 47 184 9.8e-31 SMART
EGF 201 235 8.07e-1 SMART
LamG 279 413 7.19e-38 SMART
LamG 467 619 3.28e-41 SMART
EGF 646 680 4.1e-2 SMART
LamG 705 834 5.76e-28 SMART
LamG 882 1018 7.08e-37 SMART
EGF 1043 1077 1.99e1 SMART
LamG 1105 1262 1.14e-17 SMART
low complexity region 1303 1319 N/A INTRINSIC
low complexity region 1354 1382 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190030
Predicted Effect probably benign
Transcript: ENSMUST00000190626
SMART Domains Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392

DomainStartEndE-ValueType
LamG 94 246 2.1e-43 SMART
EGF 273 307 2e-4 SMART
LamG 332 470 3.1e-28 SMART
LamG 518 654 4.4e-39 SMART
EGF 688 722 9.6e-2 SMART
LamG 750 877 1.1e-22 SMART
low complexity region 918 934 N/A INTRINSIC
low complexity region 972 1000 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. [provided by RefSeq, Dec 2012]
PHENOTYPE: Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,892,127 (GRCm39) N130D probably benign Het
Acot6 C A 12: 84,148,075 (GRCm39) D110E probably benign Het
Agrn T A 4: 156,263,891 (GRCm39) N124I probably benign Het
Astn1 G T 1: 158,427,959 (GRCm39) G710V probably damaging Het
Bcar3 T C 3: 122,220,148 (GRCm39) V15A probably benign Het
Best3 T C 10: 116,840,280 (GRCm39) probably benign Het
Bltp1 T A 3: 37,090,974 (GRCm39) I743N probably damaging Het
Cenpa T C 5: 30,829,837 (GRCm39) F39L possibly damaging Het
Cfap44 A T 16: 44,221,789 (GRCm39) M1L probably benign Het
Chrnd A G 1: 87,122,541 (GRCm39) I107M probably damaging Het
Col11a2 A G 17: 34,277,351 (GRCm39) probably benign Het
Dnah10 G A 5: 124,889,787 (GRCm39) probably null Het
Entpd8 A G 2: 24,974,781 (GRCm39) Y404C probably damaging Het
Fam118a T C 15: 84,932,633 (GRCm39) I125T possibly damaging Het
Fam161a G A 11: 22,970,298 (GRCm39) E159K possibly damaging Het
Fkbp5 A T 17: 28,657,003 (GRCm39) H71Q probably benign Het
Frem2 A T 3: 53,427,375 (GRCm39) Y2926N probably damaging Het
Gap43 A T 16: 42,112,691 (GRCm39) D23E probably damaging Het
Glt8d1 T C 14: 30,728,461 (GRCm39) F3S probably benign Het
Gm11555 C T 11: 99,540,844 (GRCm39) probably benign Het
Gtpbp1 G A 15: 79,604,292 (GRCm39) G667S probably damaging Het
H2-T24 A C 17: 36,326,463 (GRCm39) S145R probably benign Het
Inpp5b A T 4: 124,689,249 (GRCm39) N843I probably damaging Het
Jak3 C T 8: 72,139,620 (GRCm39) probably benign Het
Krt8 T A 15: 101,909,883 (GRCm39) M174L probably benign Het
Ktn1 C T 14: 47,901,398 (GRCm39) T52I probably damaging Het
Lrp4 T C 2: 91,305,523 (GRCm39) probably benign Het
Nefh G A 11: 4,890,240 (GRCm39) A793V probably damaging Het
Niban1 T C 1: 151,593,835 (GRCm39) V840A probably benign Het
Notch1 A G 2: 26,356,584 (GRCm39) S1678P probably benign Het
Notch2 C T 3: 98,009,767 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,168 (GRCm39) T49A probably benign Het
Or2ab1 A G 11: 58,488,674 (GRCm39) I151V probably benign Het
Or5ac25 T A 16: 59,182,171 (GRCm39) N137Y probably damaging Het
Or6z5 A T 7: 6,477,234 (GRCm39) I42F possibly damaging Het
Or8g17 G T 9: 38,930,472 (GRCm39) R122S probably damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pak4 T A 7: 28,267,479 (GRCm39) I62F possibly damaging Het
Pcdhb12 T A 18: 37,570,371 (GRCm39) F506I probably damaging Het
Per1 A T 11: 68,995,016 (GRCm39) D632V probably damaging Het
Plec A G 15: 76,061,498 (GRCm39) M2678T probably benign Het
Plg A G 17: 12,630,334 (GRCm39) probably benign Het
Prmt1 A T 7: 44,627,048 (GRCm39) S304R probably damaging Het
Prr27 T C 5: 87,990,537 (GRCm39) F50L probably benign Het
Prune2 T C 19: 16,984,117 (GRCm39) L159P probably damaging Het
Ptpn12 A T 5: 21,203,481 (GRCm39) N432K possibly damaging Het
Rfwd3 A G 8: 112,020,621 (GRCm39) probably null Het
Rims2 A T 15: 39,430,426 (GRCm39) D1170V probably damaging Het
Sag T C 1: 87,762,351 (GRCm39) probably null Het
Sall4 C T 2: 168,598,256 (GRCm39) A195T probably benign Het
Sbf2 G A 7: 109,966,530 (GRCm39) probably benign Het
Scaper A T 9: 55,517,158 (GRCm39) D599E possibly damaging Het
Sema7a G A 9: 57,867,876 (GRCm39) S484N possibly damaging Het
Senp1 A G 15: 97,962,761 (GRCm39) probably benign Het
Senp6 A G 9: 80,031,166 (GRCm39) T623A probably damaging Het
Siae A G 9: 37,539,090 (GRCm39) D95G probably benign Het
Slc26a2 T C 18: 61,331,451 (GRCm39) D660G probably damaging Het
Slc3a1 T C 17: 85,336,077 (GRCm39) F73S possibly damaging Het
Slfn5 A T 11: 82,851,866 (GRCm39) Q664L probably damaging Het
Spire1 T C 18: 67,624,375 (GRCm39) I512V probably damaging Het
Srpra A G 9: 35,124,797 (GRCm39) T133A probably benign Het
Stag1 A G 9: 100,836,300 (GRCm39) *175W probably null Het
Stk32c C A 7: 138,700,636 (GRCm39) V316F probably damaging Het
Tekt1 A C 11: 72,236,420 (GRCm39) N347K possibly damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnpo2 T A 8: 85,776,786 (GRCm39) C498S probably damaging Het
Tra2b G A 16: 22,065,955 (GRCm39) R281* probably null Het
Ubr5 A T 15: 37,991,588 (GRCm39) I1985N probably benign Het
Ush2a T G 1: 188,175,378 (GRCm39) S1159A probably benign Het
Vmn1r15 C T 6: 57,235,236 (GRCm39) P35S probably benign Het
Vmn1r6 A T 6: 56,979,583 (GRCm39) I60L probably benign Het
Vps8 A G 16: 21,278,561 (GRCm39) probably benign Het
Xkr7 T C 2: 152,874,272 (GRCm39) V113A possibly damaging Het
Other mutations in Nrxn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Nrxn3 APN 12 90,171,366 (GRCm39) missense probably damaging 1.00
IGL00961:Nrxn3 APN 12 90,171,320 (GRCm39) missense possibly damaging 0.95
IGL01073:Nrxn3 APN 12 89,221,510 (GRCm39) missense probably benign 0.25
IGL01338:Nrxn3 APN 12 89,221,804 (GRCm39) missense possibly damaging 0.86
IGL01377:Nrxn3 APN 12 89,499,782 (GRCm39) critical splice donor site probably null
IGL01409:Nrxn3 APN 12 89,477,128 (GRCm39) missense probably damaging 1.00
IGL01764:Nrxn3 APN 12 90,171,524 (GRCm39) missense possibly damaging 0.48
IGL02063:Nrxn3 APN 12 88,762,565 (GRCm39) missense possibly damaging 0.86
IGL02171:Nrxn3 APN 12 89,159,933 (GRCm39) missense probably damaging 1.00
IGL02309:Nrxn3 APN 12 89,943,175 (GRCm39) missense probably damaging 0.99
IGL02340:Nrxn3 APN 12 90,171,402 (GRCm39) missense possibly damaging 0.82
IGL02343:Nrxn3 APN 12 88,762,123 (GRCm39) missense probably damaging 1.00
IGL02600:Nrxn3 APN 12 89,478,682 (GRCm39) splice site probably benign
IGL02735:Nrxn3 APN 12 89,221,624 (GRCm39) missense probably benign 0.16
IGL03061:Nrxn3 APN 12 89,478,698 (GRCm39) nonsense probably null
IGL03206:Nrxn3 APN 12 89,227,278 (GRCm39) missense possibly damaging 0.88
IGL03337:Nrxn3 APN 12 89,221,790 (GRCm39) missense probably damaging 1.00
R0098:Nrxn3 UTSW 12 89,226,971 (GRCm39) missense probably damaging 1.00
R0098:Nrxn3 UTSW 12 89,226,971 (GRCm39) missense probably damaging 1.00
R0144:Nrxn3 UTSW 12 89,315,162 (GRCm39) missense probably damaging 1.00
R0334:Nrxn3 UTSW 12 89,780,412 (GRCm39) critical splice donor site probably null
R0840:Nrxn3 UTSW 12 90,298,567 (GRCm39) missense possibly damaging 0.68
R1324:Nrxn3 UTSW 12 89,221,466 (GRCm39) missense possibly damaging 0.89
R1438:Nrxn3 UTSW 12 90,298,909 (GRCm39) missense probably damaging 1.00
R1484:Nrxn3 UTSW 12 89,221,547 (GRCm39) missense probably damaging 0.99
R1621:Nrxn3 UTSW 12 88,762,480 (GRCm39) missense probably benign
R1637:Nrxn3 UTSW 12 89,321,238 (GRCm39) missense possibly damaging 0.94
R1659:Nrxn3 UTSW 12 90,299,165 (GRCm39) missense probably damaging 1.00
R1746:Nrxn3 UTSW 12 89,221,789 (GRCm39) missense possibly damaging 0.63
R1801:Nrxn3 UTSW 12 90,250,356 (GRCm39) missense probably damaging 1.00
R1912:Nrxn3 UTSW 12 88,762,112 (GRCm39) missense probably damaging 1.00
R1940:Nrxn3 UTSW 12 89,227,151 (GRCm39) missense probably damaging 0.98
R1993:Nrxn3 UTSW 12 89,227,181 (GRCm39) missense possibly damaging 0.59
R2002:Nrxn3 UTSW 12 90,299,089 (GRCm39) missense probably damaging 1.00
R2125:Nrxn3 UTSW 12 89,227,290 (GRCm39) splice site probably null
R2179:Nrxn3 UTSW 12 89,221,448 (GRCm39) missense probably damaging 1.00
R2207:Nrxn3 UTSW 12 89,315,082 (GRCm39) missense probably damaging 1.00
R2284:Nrxn3 UTSW 12 89,477,135 (GRCm39) missense probably damaging 1.00
R2433:Nrxn3 UTSW 12 89,943,160 (GRCm39) missense probably damaging 1.00
R2969:Nrxn3 UTSW 12 89,321,241 (GRCm39) missense probably damaging 1.00
R3053:Nrxn3 UTSW 12 89,221,871 (GRCm39) missense probably damaging 0.99
R3076:Nrxn3 UTSW 12 89,227,186 (GRCm39) missense probably damaging 1.00
R3078:Nrxn3 UTSW 12 89,227,186 (GRCm39) missense probably damaging 1.00
R4033:Nrxn3 UTSW 12 89,499,771 (GRCm39) missense probably damaging 1.00
R4222:Nrxn3 UTSW 12 89,499,762 (GRCm39) nonsense probably null
R4321:Nrxn3 UTSW 12 90,166,005 (GRCm39) missense probably damaging 1.00
R4470:Nrxn3 UTSW 12 90,171,515 (GRCm39) missense probably damaging 1.00
R4471:Nrxn3 UTSW 12 90,171,515 (GRCm39) missense probably damaging 1.00
R4472:Nrxn3 UTSW 12 90,171,515 (GRCm39) missense probably damaging 1.00
R4686:Nrxn3 UTSW 12 89,477,421 (GRCm39) missense probably damaging 0.99
R4776:Nrxn3 UTSW 12 90,298,730 (GRCm39) missense possibly damaging 0.55
R4821:Nrxn3 UTSW 12 90,171,483 (GRCm39) missense probably damaging 0.99
R4869:Nrxn3 UTSW 12 88,762,352 (GRCm39) missense possibly damaging 0.95
R4910:Nrxn3 UTSW 12 89,227,130 (GRCm39) missense possibly damaging 0.72
R4960:Nrxn3 UTSW 12 88,761,971 (GRCm39) missense possibly damaging 0.79
R4990:Nrxn3 UTSW 12 89,227,244 (GRCm39) missense probably damaging 1.00
R4991:Nrxn3 UTSW 12 89,227,244 (GRCm39) missense probably damaging 1.00
R5057:Nrxn3 UTSW 12 89,221,804 (GRCm39) missense probably damaging 0.99
R5329:Nrxn3 UTSW 12 89,780,354 (GRCm39) missense possibly damaging 0.92
R5888:Nrxn3 UTSW 12 89,478,855 (GRCm39) missense possibly damaging 0.91
R6249:Nrxn3 UTSW 12 89,221,448 (GRCm39) missense probably damaging 1.00
R6264:Nrxn3 UTSW 12 90,299,011 (GRCm39) missense probably damaging 1.00
R6373:Nrxn3 UTSW 12 89,943,237 (GRCm39) missense probably damaging 1.00
R6401:Nrxn3 UTSW 12 89,221,770 (GRCm39) missense possibly damaging 0.46
R6434:Nrxn3 UTSW 12 88,762,285 (GRCm39) missense probably benign 0.32
R6528:Nrxn3 UTSW 12 89,479,819 (GRCm39) missense probably damaging 1.00
R6612:Nrxn3 UTSW 12 89,780,102 (GRCm39) intron probably benign
R6632:Nrxn3 UTSW 12 89,159,924 (GRCm39) missense probably damaging 1.00
R6874:Nrxn3 UTSW 12 90,298,964 (GRCm39) missense probably damaging 0.99
R7122:Nrxn3 UTSW 12 89,477,377 (GRCm39) missense probably damaging 1.00
R7328:Nrxn3 UTSW 12 88,762,345 (GRCm39) missense probably benign
R7352:Nrxn3 UTSW 12 88,817,063 (GRCm39) missense probably benign
R7425:Nrxn3 UTSW 12 89,479,870 (GRCm39) nonsense probably null
R7444:Nrxn3 UTSW 12 89,477,464 (GRCm39) missense probably damaging 1.00
R7483:Nrxn3 UTSW 12 89,477,232 (GRCm39) missense probably damaging 1.00
R7599:Nrxn3 UTSW 12 89,478,832 (GRCm39) missense probably benign
R7738:Nrxn3 UTSW 12 88,817,074 (GRCm39) missense possibly damaging 0.68
R7765:Nrxn3 UTSW 12 89,780,254 (GRCm39) missense probably benign 0.03
R8139:Nrxn3 UTSW 12 90,171,438 (GRCm39) missense probably benign 0.01
R8192:Nrxn3 UTSW 12 90,171,569 (GRCm39) missense probably benign 0.08
R8351:Nrxn3 UTSW 12 89,477,413 (GRCm39) missense probably damaging 1.00
R8368:Nrxn3 UTSW 12 90,298,815 (GRCm39) nonsense probably null
R8397:Nrxn3 UTSW 12 90,298,583 (GRCm39) missense probably benign 0.17
R8426:Nrxn3 UTSW 12 88,762,097 (GRCm39) missense possibly damaging 0.91
R8451:Nrxn3 UTSW 12 89,477,413 (GRCm39) missense probably damaging 1.00
R8777:Nrxn3 UTSW 12 89,227,234 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Nrxn3 UTSW 12 89,227,234 (GRCm39) missense probably damaging 1.00
R8844:Nrxn3 UTSW 12 89,153,920 (GRCm39) missense possibly damaging 0.88
R8870:Nrxn3 UTSW 12 90,171,560 (GRCm39) missense probably benign 0.00
R9043:Nrxn3 UTSW 12 89,227,252 (GRCm39) missense probably damaging 1.00
R9102:Nrxn3 UTSW 12 90,298,924 (GRCm39) missense probably benign 0.01
R9167:Nrxn3 UTSW 12 89,154,068 (GRCm39) missense probably damaging 1.00
R9445:Nrxn3 UTSW 12 89,499,737 (GRCm39) nonsense probably null
R9447:Nrxn3 UTSW 12 89,221,678 (GRCm39) missense probably benign 0.35
X0019:Nrxn3 UTSW 12 90,165,995 (GRCm39) missense probably damaging 1.00
Z1176:Nrxn3 UTSW 12 89,484,679 (GRCm39) missense possibly damaging 0.45
Z1176:Nrxn3 UTSW 12 89,153,825 (GRCm39) nonsense probably null
Z1177:Nrxn3 UTSW 12 90,298,619 (GRCm39) missense probably benign 0.05
Z1177:Nrxn3 UTSW 12 89,227,082 (GRCm39) missense probably damaging 1.00
Z1177:Nrxn3 UTSW 12 88,762,458 (GRCm39) missense probably benign 0.00
Z1177:Nrxn3 UTSW 12 90,298,888 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGATTTGCCTCACCCGACAAATCC -3'
(R):5'- AAGTGCCAACTGCTGTCGTTCACC -3'

Sequencing Primer
(F):5'- GCTGATACCTGGCCTACCTG -3'
(R):5'- ACCTGCTTGTTGGATAGCACAG -3'
Posted On 2013-06-12