Incidental Mutation 'R6131:Nectin3'
ID 487153
Institutional Source Beutler Lab
Gene Symbol Nectin3
Ensembl Gene ENSMUSG00000022656
Gene Name nectin cell adhesion molecule 3
Synonyms 2610301B19Rik, nectin-3, 3000002N23Rik, Pvrl3, 4921513D19Rik
MMRRC Submission 044278-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R6131 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 46208069-46318888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46215515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 76 (H76N)
Ref Sequence ENSEMBL: ENSMUSP00000113301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023335] [ENSMUST00000119941] [ENSMUST00000121245] [ENSMUST00000121803]
AlphaFold Q9JLB9
Predicted Effect possibly damaging
Transcript: ENSMUST00000023335
AA Change: H493N

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656
AA Change: H493N

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
IG 63 167 5.04e-9 SMART
Pfam:C2-set_2 173 257 2.5e-19 PFAM
Pfam:Ig_2 281 355 1.3e-6 PFAM
transmembrane domain 368 390 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119941
AA Change: H76N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000121245
AA Change: H168N

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113146
Gene: ENSMUSG00000022656
AA Change: H168N

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121803
AA Change: H83N

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000124602
SMART Domains Protein: ENSMUSP00000115927
Gene: ENSMUSG00000022656

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Meta Mutation Damage Score 0.1725 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
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 nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice exhibit male infertility and eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Col25a1 C A 3: 130,329,114 (GRCm39) P337Q probably damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
G6pd2 A T 5: 61,966,593 (GRCm39) S123C probably benign Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lonp1 T C 17: 56,921,457 (GRCm39) E926G probably benign Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b53 T A 9: 38,667,362 (GRCm39) I126N probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Psme2b T C 11: 48,836,752 (GRCm39) D65G probably damaging Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spag16 A G 1: 70,764,242 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F probably damaging Het
Zfp536 T A 7: 37,269,137 (GRCm39) D93V probably damaging Het
Other mutations in Nectin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01456:Nectin3 APN 16 46,279,216 (GRCm39) missense probably benign 0.23
R0373:Nectin3 UTSW 16 46,278,550 (GRCm39) missense probably damaging 0.99
R0550:Nectin3 UTSW 16 46,279,183 (GRCm39) missense possibly damaging 0.86
R1219:Nectin3 UTSW 16 46,275,042 (GRCm39) nonsense probably null
R1251:Nectin3 UTSW 16 46,284,205 (GRCm39) missense possibly damaging 0.82
R1398:Nectin3 UTSW 16 46,269,119 (GRCm39) missense possibly damaging 0.95
R1439:Nectin3 UTSW 16 46,268,757 (GRCm39) nonsense probably null
R2250:Nectin3 UTSW 16 46,275,099 (GRCm39) missense probably benign 0.00
R2448:Nectin3 UTSW 16 46,268,878 (GRCm39) splice site probably null
R2483:Nectin3 UTSW 16 46,215,542 (GRCm39) missense possibly damaging 0.83
R4523:Nectin3 UTSW 16 46,268,953 (GRCm39) missense probably benign 0.15
R4709:Nectin3 UTSW 16 46,284,306 (GRCm39) missense possibly damaging 0.58
R4809:Nectin3 UTSW 16 46,268,523 (GRCm39) intron probably benign
R4884:Nectin3 UTSW 16 46,269,249 (GRCm39) missense probably benign 0.01
R5051:Nectin3 UTSW 16 46,268,913 (GRCm39) missense possibly damaging 0.95
R5061:Nectin3 UTSW 16 46,268,812 (GRCm39) missense probably benign 0.03
R5272:Nectin3 UTSW 16 46,268,839 (GRCm39) missense possibly damaging 0.82
R5365:Nectin3 UTSW 16 46,284,469 (GRCm39) nonsense probably null
R5768:Nectin3 UTSW 16 46,279,180 (GRCm39) missense probably damaging 0.98
R5987:Nectin3 UTSW 16 46,284,508 (GRCm39) missense probably benign 0.00
R6029:Nectin3 UTSW 16 46,256,763 (GRCm39) missense probably benign 0.08
R6251:Nectin3 UTSW 16 46,215,513 (GRCm39) missense probably damaging 0.99
R6299:Nectin3 UTSW 16 46,284,345 (GRCm39) missense probably damaging 0.98
R6347:Nectin3 UTSW 16 46,278,487 (GRCm39) missense probably benign 0.01
R6360:Nectin3 UTSW 16 46,231,472 (GRCm39) missense probably benign 0.09
R6505:Nectin3 UTSW 16 46,269,184 (GRCm39) missense possibly damaging 0.68
R6703:Nectin3 UTSW 16 46,284,205 (GRCm39) missense probably damaging 0.99
R6869:Nectin3 UTSW 16 46,215,506 (GRCm39) missense probably damaging 0.96
R7184:Nectin3 UTSW 16 46,215,484 (GRCm39) missense possibly damaging 0.66
R7298:Nectin3 UTSW 16 46,268,759 (GRCm39) missense probably damaging 1.00
R7455:Nectin3 UTSW 16 46,317,105 (GRCm39) nonsense probably null
R7973:Nectin3 UTSW 16 46,216,484 (GRCm39) missense probably benign 0.13
R7993:Nectin3 UTSW 16 46,279,184 (GRCm39) missense probably benign 0.01
R8108:Nectin3 UTSW 16 46,284,484 (GRCm39) missense possibly damaging 0.84
R8259:Nectin3 UTSW 16 46,256,754 (GRCm39) missense probably benign 0.00
R8511:Nectin3 UTSW 16 46,284,363 (GRCm39) missense probably damaging 1.00
R8971:Nectin3 UTSW 16 46,269,265 (GRCm39) missense probably benign
R9195:Nectin3 UTSW 16 46,279,259 (GRCm39) nonsense probably null
R9264:Nectin3 UTSW 16 46,274,998 (GRCm39) missense probably damaging 1.00
R9492:Nectin3 UTSW 16 46,215,511 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCCATCGATCGTTGCAAC -3'
(R):5'- CCATCCAGTTCCTTTGAGGG -3'

Sequencing Primer
(F):5'- CGATCGTTGCAACACACTTTAAG -3'
(R):5'- TGTTTTCACCAGTGTCCTAGAAG -3'
Posted On 2017-10-10