Incidental Mutation 'R1037:Lrrc4c'
ID 93843
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 039136-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R1037 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 96148514-97462011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97460330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 319 (M319V)
Ref Sequence ENSEMBL: ENSMUSP00000125218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059049] [ENSMUST00000135431] [ENSMUST00000162807] [ENSMUST00000170144]
AlphaFold Q8C031
Predicted Effect probably benign
Transcript: ENSMUST00000059049
AA Change: M319V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131795
Gene: ENSMUSG00000050587
AA Change: M319V

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: ENSMUST00000135431
AA Change: M319V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130984
Gene: ENSMUSG00000050587
AA Change: M319V

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: ENSMUST00000162807
AA Change: M319V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125218
Gene: ENSMUSG00000050587
AA Change: M319V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199276
Meta Mutation Damage Score 0.0584 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.1%
  • 10x: 94.3%
  • 20x: 85.9%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,144 (GRCm39) S139G probably benign Het
Abca2 T A 2: 25,328,240 (GRCm39) probably benign Het
Abcb1b A T 5: 8,875,657 (GRCm39) N610I probably benign Het
Ahnak T C 19: 8,984,982 (GRCm39) F2089L probably benign Het
Cacnb1 T C 11: 97,895,843 (GRCm39) probably benign Het
Cep57 T C 9: 13,730,275 (GRCm39) I61V possibly damaging Het
Ckap5 T C 2: 91,380,974 (GRCm39) I110T probably benign Het
Clasp2 T C 9: 113,725,702 (GRCm39) probably benign Het
Col11a1 A C 3: 113,987,801 (GRCm39) E265A probably damaging Het
Cst13 A G 2: 148,672,251 (GRCm39) probably benign Het
Cyp24a1 G A 2: 170,333,537 (GRCm39) T272M probably damaging Het
Cyp4a14 A C 4: 115,347,193 (GRCm39) L415R probably damaging Het
Dbnl T C 11: 5,746,807 (GRCm39) F179S probably damaging Het
Eepd1 T C 9: 25,498,079 (GRCm39) L388P possibly damaging Het
Exosc8 G T 3: 54,640,159 (GRCm39) A55E probably damaging Het
Fam72a G A 1: 131,461,557 (GRCm39) V81I probably damaging Het
Fasn C T 11: 120,700,277 (GRCm39) M2182I probably benign Het
Fras1 C T 5: 96,862,322 (GRCm39) P2234S probably damaging Het
Grn C A 11: 102,323,896 (GRCm39) D33E possibly damaging Het
Gsap A G 5: 21,456,163 (GRCm39) probably benign Het
H2bc15 T A 13: 21,938,417 (GRCm39) V42E probably damaging Het
Hook3 T C 8: 26,562,378 (GRCm39) Q229R possibly damaging Het
Itgb6 T C 2: 60,480,412 (GRCm39) E308G probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Mia3 T C 1: 183,138,698 (GRCm39) I672M probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlc1 A G 15: 88,849,664 (GRCm39) L223P probably damaging Het
Mmp21 T C 7: 133,276,182 (GRCm39) K554E probably benign Het
Nup160 C T 2: 90,524,246 (GRCm39) T383I probably damaging Het
Opcml T A 9: 28,814,595 (GRCm39) D290E probably damaging Het
Or10a3b T A 7: 108,445,191 (GRCm39) T9S probably benign Het
Or4a27 T A 2: 88,559,376 (GRCm39) D189V probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Or5d38 A G 2: 87,954,573 (GRCm39) I252T probably damaging Het
Or5k14 T C 16: 58,693,333 (GRCm39) Y60C probably damaging Het
Palm3 C A 8: 84,755,901 (GRCm39) T471K probably benign Het
Prl2c5 T A 13: 13,360,492 (GRCm39) L50* probably null Het
Pzp T C 6: 128,496,389 (GRCm39) N281S probably benign Het
Qser1 T C 2: 104,590,900 (GRCm39) Y1722C probably damaging Het
Ryr3 A G 2: 112,699,453 (GRCm39) V879A probably benign Het
Sbno1 A G 5: 124,531,975 (GRCm39) S736P possibly damaging Het
Septin5 G A 16: 18,441,844 (GRCm39) probably benign Het
Slc17a6 A G 7: 51,298,996 (GRCm39) probably benign Het
Spag17 A T 3: 100,010,433 (GRCm39) T1976S probably benign Het
Swt1 A T 1: 151,246,320 (GRCm39) probably benign Het
Tenm4 T C 7: 96,446,688 (GRCm39) W853R probably damaging Het
Thbs1 A T 2: 117,953,532 (GRCm39) Q983L probably damaging Het
Tmem191 A G 16: 17,094,347 (GRCm39) probably benign Het
Tmprss11g A T 5: 86,638,606 (GRCm39) V294D probably damaging Het
Tor1aip2 A G 1: 155,941,082 (GRCm39) S463G probably benign Het
Trim36 A G 18: 46,329,385 (GRCm39) probably benign Het
Ttc1 A G 11: 43,621,326 (GRCm39) V285A possibly damaging Het
Uckl1 C T 2: 181,214,278 (GRCm39) R303H possibly damaging Het
Vwa8 C A 14: 79,324,094 (GRCm39) C1132* 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
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
R7699:Lrrc4c UTSW 2 97,461,024 (GRCm39) missense possibly damaging 0.81
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'- TGCAACCTTCGGGAAATCCCTAAC -3'
(R):5'- AGAAGCCCGACATTTCAGCTCAG -3'

Sequencing Primer
(F):5'- GGGAACCATTTGTCTGCAATCAG -3'
(R):5'- AGCTGCCATGCCTTCAGTG -3'
Posted On 2014-01-05