Incidental Mutation 'R3822:Lrrc4b'
ID 275224
Institutional Source Beutler Lab
Gene Symbol Lrrc4b
Ensembl Gene ENSMUSG00000047085
Gene Name leucine rich repeat containing 4B
Synonyms NGL-3, Lrig4, Ngl3
MMRRC Submission 040884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R3822 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44091911-44112775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44111982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 618 (V618E)
Ref Sequence ENSEMBL: ENSMUSP00000053123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035929] [ENSMUST00000058667] [ENSMUST00000127790] [ENSMUST00000135624] [ENSMUST00000146128] [ENSMUST00000156957] [ENSMUST00000156093] [ENSMUST00000152902]
AlphaFold P0C192
PDB Structure CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS AND IMMUNOGLOBULIN DOMAIN OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000035929
SMART Domains Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:NAD_binding_3 17 128 3.8e-24 PFAM
Pfam:DUF108 174 265 2.9e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000058667
AA Change: V618E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: V618E

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
LRRNT 58 92 5.6e-8 SMART
LRR 91 110 1.62e2 SMART
LRR 111 134 1.16e-1 SMART
LRR_TYP 135 158 8.22e-2 SMART
LRR_TYP 159 182 5.99e-4 SMART
LRR 208 229 1.62e2 SMART
LRR_TYP 230 253 3.63e-3 SMART
LRR 254 277 9.75e0 SMART
LRR_TYP 278 301 5.29e-5 SMART
LRRCT 313 364 1.92e-3 SMART
IGc2 378 445 1.45e-9 SMART
low complexity region 462 482 N/A INTRINSIC
low complexity region 528 547 N/A INTRINSIC
transmembrane domain 573 595 N/A INTRINSIC
low complexity region 596 607 N/A INTRINSIC
low complexity region 624 644 N/A INTRINSIC
low complexity region 673 686 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127790
SMART Domains Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
LRRNT 58 92 5.6e-8 SMART
LRR 91 110 1.62e2 SMART
LRR 111 134 1.16e-1 SMART
LRR_TYP 135 158 8.22e-2 SMART
LRR_TYP 159 182 5.99e-4 SMART
Blast:LRR 183 207 2e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133801
Predicted Effect probably benign
Transcript: ENSMUST00000135624
Predicted Effect probably benign
Transcript: ENSMUST00000146128
SMART Domains Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:NAD_binding_3 5 110 1e-19 PFAM
Pfam:DUF108 153 252 7.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207591
Predicted Effect probably benign
Transcript: ENSMUST00000156957
SMART Domains Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:DUF108 52 151 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156093
SMART Domains Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
LRRNT 58 92 5.6e-8 SMART
LRR 91 110 1.62e2 SMART
LRR 111 134 1.16e-1 SMART
LRR_TYP 135 158 8.22e-2 SMART
LRR_TYP 159 182 5.99e-4 SMART
Blast:LRR 183 207 2e-6 BLAST
LRR 208 230 3.65e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152902
Meta Mutation Damage Score 0.7103 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Chka A G 19: 3,932,038 (GRCm39) probably benign Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Cth A G 3: 157,624,136 (GRCm39) F127S probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Dysf T C 6: 84,184,070 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Gpr89 A G 3: 96,800,260 (GRCm39) S113P probably benign Het
Herpud2 G A 9: 25,036,220 (GRCm39) Q147* probably null Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Hlcs T C 16: 94,068,840 (GRCm39) N274D probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Man1a2 A G 3: 100,539,913 (GRCm39) I176T possibly damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Psmb7 A T 2: 38,503,440 (GRCm39) probably benign Het
Rin2 C T 2: 145,664,550 (GRCm39) T60M probably benign Het
Slc28a3 A G 13: 58,706,092 (GRCm39) V639A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpm1 A G 7: 63,867,451 (GRCm39) probably benign Het
Ugt1a6a T A 1: 88,066,251 (GRCm39) V19E probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Wdr4 T G 17: 31,731,195 (GRCm39) Q55P probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,657,769 (GRCm39) L714Q probably damaging Het
Other mutations in Lrrc4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0165:Lrrc4b UTSW 7 44,111,739 (GRCm39) missense probably damaging 0.99
R1398:Lrrc4b UTSW 7 44,111,876 (GRCm39) missense probably benign 0.44
R1421:Lrrc4b UTSW 7 44,110,475 (GRCm39) missense probably benign 0.00
R1622:Lrrc4b UTSW 7 44,111,654 (GRCm39) unclassified probably benign
R1681:Lrrc4b UTSW 7 44,110,601 (GRCm39) missense probably damaging 0.99
R1778:Lrrc4b UTSW 7 44,111,823 (GRCm39) missense probably benign
R1967:Lrrc4b UTSW 7 44,111,654 (GRCm39) unclassified probably benign
R1989:Lrrc4b UTSW 7 44,111,654 (GRCm39) unclassified probably benign
R2427:Lrrc4b UTSW 7 44,111,976 (GRCm39) missense probably damaging 1.00
R3820:Lrrc4b UTSW 7 44,111,982 (GRCm39) missense probably damaging 1.00
R4774:Lrrc4b UTSW 7 44,111,796 (GRCm39) splice site probably null
R5249:Lrrc4b UTSW 7 44,111,988 (GRCm39) missense possibly damaging 0.93
R5268:Lrrc4b UTSW 7 44,110,787 (GRCm39) missense probably damaging 1.00
R6029:Lrrc4b UTSW 7 44,111,754 (GRCm39) missense probably benign 0.00
R6984:Lrrc4b UTSW 7 44,110,722 (GRCm39) missense possibly damaging 0.62
R7003:Lrrc4b UTSW 7 44,094,580 (GRCm39) missense probably damaging 1.00
R7392:Lrrc4b UTSW 7 44,111,439 (GRCm39) missense probably damaging 1.00
R7544:Lrrc4b UTSW 7 44,111,975 (GRCm39) missense probably damaging 1.00
R7582:Lrrc4b UTSW 7 44,111,234 (GRCm39) missense probably benign 0.00
R7596:Lrrc4b UTSW 7 44,111,310 (GRCm39) missense probably damaging 1.00
R7830:Lrrc4b UTSW 7 44,111,231 (GRCm39) missense possibly damaging 0.76
R7836:Lrrc4b UTSW 7 44,094,316 (GRCm39) start gained probably benign
R8116:Lrrc4b UTSW 7 44,110,533 (GRCm39) missense probably damaging 1.00
R8147:Lrrc4b UTSW 7 44,111,829 (GRCm39) missense probably damaging 1.00
R8376:Lrrc4b UTSW 7 44,112,018 (GRCm39) missense probably benign 0.00
R9226:Lrrc4b UTSW 7 44,112,099 (GRCm39) missense possibly damaging 0.85
R9674:Lrrc4b UTSW 7 44,111,852 (GRCm39) missense probably damaging 1.00
Z1176:Lrrc4b UTSW 7 44,110,736 (GRCm39) frame shift probably null
Z1176:Lrrc4b UTSW 7 44,094,547 (GRCm39) missense probably damaging 1.00
Z1177:Lrrc4b UTSW 7 44,111,335 (GRCm39) missense probably damaging 1.00
Z1177:Lrrc4b UTSW 7 44,094,404 (GRCm39) missense unknown
Z1177:Lrrc4b UTSW 7 44,094,403 (GRCm39) missense unknown
Z1177:Lrrc4b UTSW 7 44,112,041 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCGCTTAAGGACCTAGACG -3'
(R):5'- CTTGAAGAGCAGAGGTTCGTG -3'

Sequencing Primer
(F):5'- CGCTTAAGGACCTAGACGATGTC -3'
(R):5'- CGTGGATGGAGTTGAGGCC -3'
Posted On 2015-04-02