Incidental Mutation 'R7699:Lrrc4c'
ID 593829
Institutional Source Beutler Lab
Gene Symbol Lrrc4c
Ensembl Gene ENSMUSG00000050587
Gene Name leucine rich repeat containing 4C
Synonyms 6430556C10Rik, netrin g1 ligand, NGL-1
MMRRC Submission 045760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R7699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 96148514-97462011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97461024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 550 (M550T)
Ref Sequence ENSEMBL: ENSMUSP00000131795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059049] [ENSMUST00000135431] [ENSMUST00000162807] [ENSMUST00000170144]
AlphaFold Q8C031
Predicted Effect possibly damaging
Transcript: ENSMUST00000059049
AA Change: M550T

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131795
Gene: ENSMUSG00000050587
AA Change: M550T

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
LRRNT 46 80 6.95e-4 SMART
LRR 79 98 1.97e2 SMART
LRR_TYP 99 122 7.37e-4 SMART
LRR 123 146 1.08e-1 SMART
LRR_TYP 147 170 1.38e-3 SMART
Blast:LRR 171 195 5e-8 BLAST
LRR 196 217 8.03e1 SMART
LRR_TYP 218 241 2.12e-4 SMART
LRR 242 265 6.97e1 SMART
LRR_TYP 266 289 2.53e-2 SMART
LRRCT 301 352 2.68e-2 SMART
IGc2 366 433 1.22e-7 SMART
transmembrane domain 526 548 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000135431
AA Change: M550T

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130984
Gene: ENSMUSG00000050587
AA Change: M550T

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
LRRNT 46 80 6.95e-4 SMART
LRR 79 98 1.97e2 SMART
LRR_TYP 99 122 7.37e-4 SMART
LRR 123 146 1.08e-1 SMART
LRR_TYP 147 170 1.38e-3 SMART
Blast:LRR 171 195 5e-8 BLAST
LRR 196 217 8.03e1 SMART
LRR_TYP 218 241 2.12e-4 SMART
LRR 242 265 6.97e1 SMART
LRR_TYP 266 289 2.53e-2 SMART
LRRCT 301 352 2.68e-2 SMART
IGc2 366 433 1.22e-7 SMART
transmembrane domain 526 548 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162807
AA Change: M550T

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125218
Gene: ENSMUSG00000050587
AA Change: M550T

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
LRRNT 46 80 6.95e-4 SMART
LRR 79 98 1.97e2 SMART
LRR_TYP 99 122 7.37e-4 SMART
LRR 123 146 1.08e-1 SMART
LRR_TYP 147 170 1.38e-3 SMART
Blast:LRR 171 195 5e-8 BLAST
LRR 196 217 8.03e1 SMART
LRR_TYP 218 241 2.12e-4 SMART
LRR 242 265 6.97e1 SMART
LRR_TYP 266 289 2.53e-2 SMART
LRRCT 301 352 2.68e-2 SMART
IGc2 366 433 1.22e-7 SMART
transmembrane domain 526 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170144
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice exhibited an increased mean serum IL-6 response to LPS challenge when compared with controls. No other notable phenotype was detected in a high-througput screen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,417 (GRCm39) L72P probably benign Het
4930407I10Rik C A 15: 81,948,306 (GRCm39) H734Q probably benign Het
Acadl A G 1: 66,877,522 (GRCm39) V343A possibly damaging Het
Acot4 A T 12: 84,090,011 (GRCm39) D236V probably damaging Het
App T A 16: 84,837,197 (GRCm39) probably null Het
Arfgef1 G A 1: 10,264,636 (GRCm39) T470I possibly damaging Het
Arhgef5 T C 6: 43,251,691 (GRCm39) I814T probably benign Het
Atr A T 9: 95,757,743 (GRCm39) R968* probably null Het
Bltp1 T A 3: 37,028,321 (GRCm39) N2329K possibly damaging Het
Bltp1 C T 3: 37,080,303 (GRCm39) S267L probably benign Het
Capn7 C T 14: 31,074,401 (GRCm39) T268I probably benign Het
Ccn1 C T 3: 145,354,447 (GRCm39) G155R probably damaging Het
Cubn A T 2: 13,352,989 (GRCm39) F1916L probably benign Het
Cubn A G 2: 13,494,728 (GRCm39) V107A possibly damaging Het
Cyp11b1 T A 15: 74,707,691 (GRCm39) T473S probably damaging Het
Dip2c T G 13: 9,709,347 (GRCm39) S1396A probably benign Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Echdc2 G T 4: 108,031,274 (GRCm39) R206L probably benign Het
Ep400 C T 5: 110,843,898 (GRCm39) R1594Q unknown Het
Fmnl2 G A 2: 52,926,520 (GRCm39) R69Q Het
Fry T A 5: 150,328,792 (GRCm39) H1308Q probably damaging Het
Fyb2 T A 4: 104,867,651 (GRCm39) D667E probably benign Het
Gimap7 T A 6: 48,700,791 (GRCm39) Y126N possibly damaging Het
Gm1979 A T 5: 26,205,178 (GRCm39) W266R probably damaging Het
Gm28042 T A 2: 119,870,197 (GRCm39) M712K possibly damaging Het
Gm3238 A G 10: 77,606,469 (GRCm39) *231R probably null Het
Gm5592 C A 7: 40,935,831 (GRCm39) A111E probably damaging Het
Gm7694 A G 1: 170,128,717 (GRCm39) *271Q probably null Het
Ift81 T C 5: 122,732,623 (GRCm39) M304V possibly damaging Het
Igfals T C 17: 25,099,548 (GRCm39) L213P probably damaging Het
Ints3 G A 3: 90,329,111 (GRCm39) P83S probably benign Het
Kcna10 T G 3: 107,102,856 (GRCm39) S496A probably damaging Het
Kmt2d G A 15: 98,741,600 (GRCm39) A4520V unknown Het
Lemd3 A T 10: 120,813,995 (GRCm39) Y413N probably damaging Het
Lgr6 T C 1: 134,923,770 (GRCm39) N453S probably damaging Het
Lmtk3 A C 7: 45,441,998 (GRCm39) D352A probably damaging Het
Maml2 A T 9: 13,532,385 (GRCm39) Q533L Het
Mdn1 T A 4: 32,741,344 (GRCm39) D3815E probably damaging Het
Megf8 C T 7: 25,029,353 (GRCm39) A299V possibly damaging Het
Meis3 G T 7: 15,911,481 (GRCm39) E59D probably benign Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Mtus1 T A 8: 41,537,006 (GRCm39) T237S possibly damaging Het
Ndfip2 T A 14: 105,525,193 (GRCm39) V158E possibly damaging Het
Nrbp2 T G 15: 75,962,746 (GRCm39) T53P probably damaging Het
Nrde2 G A 12: 100,097,094 (GRCm39) P902L probably benign Het
Or10ab5 T A 7: 108,244,879 (GRCm39) K301N probably damaging Het
Or11g24 T A 14: 50,662,792 (GRCm39) M272K probably benign Het
Or2y13 A G 11: 49,415,381 (GRCm39) Y277C probably damaging Het
Or51a10 T A 7: 103,699,800 (GRCm39) probably benign Het
Or6c202 T C 10: 128,995,924 (GRCm39) M310V probably benign Het
Pcdha1 A G 18: 37,064,115 (GRCm39) T260A probably damaging Het
Pdlim1 T G 19: 40,238,102 (GRCm39) K98N probably damaging Het
Phrf1 G A 7: 140,834,842 (GRCm39) G207R unknown Het
Pik3r6 A G 11: 68,419,389 (GRCm39) K124R probably damaging Het
Polr2b T A 5: 77,488,268 (GRCm39) F823I probably benign Het
Prss58 T C 6: 40,872,322 (GRCm39) I234V probably damaging Het
Ptpn14 A T 1: 189,597,608 (GRCm39) N766I probably benign Het
Qrfprl T A 6: 65,429,940 (GRCm39) I212N probably benign Het
Repin1 T A 6: 48,574,756 (GRCm39) S562T probably damaging Het
Rgr C T 14: 36,766,552 (GRCm39) D165N probably damaging Het
Rho T C 6: 115,912,200 (GRCm39) F221L probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnase2a A G 14: 51,493,248 (GRCm39) I39T probably damaging Het
Rpl13a T G 7: 44,776,660 (GRCm39) I43L probably benign Het
Rpp30 T C 19: 36,066,558 (GRCm39) V97A probably benign Het
Scube3 T C 17: 28,386,023 (GRCm39) Y755H probably damaging Het
Sec24a A T 11: 51,603,084 (GRCm39) V788E probably damaging Het
Spns2 A T 11: 72,380,443 (GRCm39) L60* probably null Het
Strc T C 2: 121,202,229 (GRCm39) N1213S possibly damaging Het
Tec A T 5: 72,943,367 (GRCm39) I116N possibly damaging Het
Tll1 A T 8: 64,546,988 (GRCm39) D319E probably benign Het
Tmem121b T C 6: 120,470,388 (GRCm39) T110A unknown Het
Tmem232 T A 17: 65,572,213 (GRCm39) I593F probably damaging Het
Tpp2 A G 1: 44,009,626 (GRCm39) I487V probably benign Het
Ubr4 C A 4: 139,136,178 (GRCm39) C934* probably null Het
Vmn1r68 A G 7: 10,261,559 (GRCm39) Y180H probably benign Het
Vmn2r25 T C 6: 123,816,882 (GRCm39) D233G possibly damaging Het
Wdr6 A G 9: 108,453,560 (GRCm39) W108R possibly damaging Het
Zng1 A G 19: 24,920,045 (GRCm39) probably null Het
Other mutations in Lrrc4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Lrrc4c APN 2 97,460,730 (GRCm39) nonsense probably null
IGL02095:Lrrc4c APN 2 97,459,749 (GRCm39) missense probably benign 0.05
IGL02165:Lrrc4c APN 2 97,459,378 (GRCm39) start codon destroyed probably null 0.33
IGL02176:Lrrc4c APN 2 97,460,598 (GRCm39) missense probably damaging 0.96
IGL02674:Lrrc4c APN 2 97,460,120 (GRCm39) missense probably damaging 0.99
IGL03082:Lrrc4c APN 2 97,460,931 (GRCm39) missense probably benign 0.05
IGL03303:Lrrc4c APN 2 97,459,937 (GRCm39) missense probably damaging 1.00
R0946:Lrrc4c UTSW 2 97,459,809 (GRCm39) missense probably benign 0.00
R1037:Lrrc4c UTSW 2 97,460,330 (GRCm39) missense probably benign
R1518:Lrrc4c UTSW 2 97,460,921 (GRCm39) missense probably benign
R1559:Lrrc4c UTSW 2 97,461,117 (GRCm39) missense probably benign 0.00
R2192:Lrrc4c UTSW 2 97,459,657 (GRCm39) missense possibly damaging 0.50
R2213:Lrrc4c UTSW 2 97,460,816 (GRCm39) missense probably benign 0.29
R2279:Lrrc4c UTSW 2 97,460,850 (GRCm39) missense possibly damaging 0.86
R3552:Lrrc4c UTSW 2 97,460,306 (GRCm39) missense probably damaging 1.00
R3840:Lrrc4c UTSW 2 97,460,537 (GRCm39) missense probably damaging 0.98
R3841:Lrrc4c UTSW 2 97,460,537 (GRCm39) missense probably damaging 0.98
R4606:Lrrc4c UTSW 2 97,460,658 (GRCm39) missense probably benign 0.22
R4938:Lrrc4c UTSW 2 97,459,646 (GRCm39) missense probably damaging 1.00
R4946:Lrrc4c UTSW 2 97,460,834 (GRCm39) missense probably benign 0.00
R5323:Lrrc4c UTSW 2 97,460,498 (GRCm39) missense probably damaging 1.00
R6014:Lrrc4c UTSW 2 97,459,557 (GRCm39) splice site probably null
R6297:Lrrc4c UTSW 2 97,459,964 (GRCm39) missense probably damaging 0.99
R6376:Lrrc4c UTSW 2 97,459,391 (GRCm39) missense probably benign 0.03
R7032:Lrrc4c UTSW 2 97,459,410 (GRCm39) missense probably benign
R7419:Lrrc4c UTSW 2 97,460,106 (GRCm39) missense probably benign 0.07
R7700:Lrrc4c UTSW 2 97,461,024 (GRCm39) missense possibly damaging 0.81
R7723:Lrrc4c UTSW 2 97,460,999 (GRCm39) missense possibly damaging 0.91
R7736:Lrrc4c UTSW 2 97,460,705 (GRCm39) missense probably benign 0.02
R7843:Lrrc4c UTSW 2 97,460,558 (GRCm39) missense probably benign 0.19
R7880:Lrrc4c UTSW 2 97,461,143 (GRCm39) missense probably benign 0.08
R8008:Lrrc4c UTSW 2 97,460,594 (GRCm39) missense possibly damaging 0.88
R8479:Lrrc4c UTSW 2 97,459,977 (GRCm39) missense probably damaging 1.00
R8802:Lrrc4c UTSW 2 97,460,603 (GRCm39) missense possibly damaging 0.83
R8821:Lrrc4c UTSW 2 97,460,040 (GRCm39) missense possibly damaging 0.88
R8906:Lrrc4c UTSW 2 97,460,393 (GRCm39) missense probably benign 0.00
R8933:Lrrc4c UTSW 2 97,459,826 (GRCm39) missense probably benign 0.36
R8974:Lrrc4c UTSW 2 97,459,992 (GRCm39) missense probably damaging 1.00
R9115:Lrrc4c UTSW 2 97,459,686 (GRCm39) missense probably benign 0.00
R9266:Lrrc4c UTSW 2 97,459,853 (GRCm39) missense probably benign 0.26
R9311:Lrrc4c UTSW 2 97,461,080 (GRCm39) missense possibly damaging 0.90
Z1177:Lrrc4c UTSW 2 97,460,828 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTACGCCACAGAGCACAAGG -3'
(R):5'- CGGATCAATAACGGTTCATGCAC -3'

Sequencing Primer
(F):5'- CACAGAGCACAAGGTCGACAG -3'
(R):5'- TTCATGCACTGAACTGTGTATTG -3'
Posted On 2019-11-12