Incidental Mutation 'R8008:Lrrc4c'
| ID |
616724 |
| 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 |
046048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R8008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
96148514-97462011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97460594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 407
(S407C)
|
| 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: S407C
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131795
Gene: ENSMUSG00000050587
AA Change: S407C
| Domain | Start | End | E-Value | Type |
|---|
|
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: S407C
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130984
Gene: ENSMUSG00000050587
AA Change: S407C
| Domain | Start | End | E-Value | Type |
|---|
|
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: S407C
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125218
Gene: ENSMUSG00000050587
AA Change: S407C
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,384 (GRCm39) |
S536P |
unknown |
Het |
| Ankar |
A |
G |
1: 72,705,643 (GRCm39) |
V789A |
possibly damaging |
Het |
| Atp5f1b |
C |
A |
10: 127,919,277 (GRCm39) |
Q28K |
unknown |
Het |
| Brpf1 |
T |
C |
6: 113,296,050 (GRCm39) |
V781A |
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,451,774 (GRCm39) |
S414L |
not run |
Het |
| Cimip3 |
T |
A |
17: 47,747,661 (GRCm39) |
E28V |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,550,370 (GRCm39) |
T192S |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,551,349 (GRCm39) |
S119T |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,260 (GRCm39) |
N164S |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,818,415 (GRCm39) |
N1390K |
probably damaging |
Het |
| Epn2 |
C |
T |
11: 61,437,492 (GRCm39) |
A27T |
probably damaging |
Het |
| Esp34 |
T |
C |
17: 38,870,490 (GRCm39) |
F128S |
possibly damaging |
Het |
| Evpl |
T |
A |
11: 116,121,298 (GRCm39) |
N410Y |
probably null |
Het |
| Flnb |
A |
G |
14: 7,892,155 (GRCm38) |
Y608C |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,715 (GRCm39) |
S329P |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,331 (GRCm39) |
N1392I |
probably damaging |
Het |
| Garin2 |
T |
A |
12: 78,761,817 (GRCm39) |
D160E |
probably benign |
Het |
| Gpi1 |
G |
T |
7: 33,917,726 (GRCm39) |
N249K |
probably damaging |
Het |
| Gpr87 |
T |
C |
3: 59,087,466 (GRCm39) |
N13S |
probably benign |
Het |
| Gys2 |
T |
C |
6: 142,400,243 (GRCm39) |
T323A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,770 (GRCm39) |
I1084T |
probably damaging |
Het |
| Lrfn4 |
C |
G |
19: 4,663,565 (GRCm39) |
G323A |
probably benign |
Het |
| Map3k20 |
A |
T |
2: 72,268,613 (GRCm39) |
Q540L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,407,057 (GRCm39) |
V1158A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,144,983 (GRCm39) |
D378G |
unknown |
Het |
| Nhsl1 |
T |
A |
10: 18,284,186 (GRCm39) |
D42E |
probably damaging |
Het |
| Nr0b2 |
C |
A |
4: 133,283,339 (GRCm39) |
A192E |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,425,000 (GRCm39) |
D182G |
possibly damaging |
Het |
| Or12d14-ps1 |
T |
C |
17: 37,673,265 (GRCm39) |
S86P |
probably damaging |
Het |
| Or4c115 |
A |
T |
2: 88,928,059 (GRCm39) |
C71S |
probably benign |
Het |
| Or5b119 |
T |
C |
19: 13,457,170 (GRCm39) |
T131A |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,251 (GRCm39) |
T111A |
probably benign |
Het |
| Or8b12 |
A |
T |
9: 37,658,089 (GRCm39) |
I220F |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,126 (GRCm39) |
N250S |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pmp22 |
C |
T |
11: 63,049,233 (GRCm39) |
R159C |
probably damaging |
Het |
| Pou3f1 |
C |
T |
4: 124,552,764 (GRCm39) |
A422V |
unknown |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,829,340 (GRCm39) |
D352G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,671,980 (GRCm39) |
V3420A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,864,082 (GRCm39) |
Y521* |
probably null |
Het |
| Smc4 |
T |
C |
3: 68,914,645 (GRCm39) |
V86A |
probably damaging |
Het |
| Stap2 |
T |
A |
17: 56,304,790 (GRCm39) |
M331L |
probably benign |
Het |
| Syt8 |
G |
A |
7: 141,992,259 (GRCm39) |
R89H |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trim21 |
G |
T |
7: 102,209,183 (GRCm39) |
T280K |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,305,556 (GRCm39) |
V476F |
probably benign |
Het |
| Troap |
G |
T |
15: 98,973,511 (GRCm39) |
R56L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,667,130 (GRCm39) |
I11492K |
unknown |
Het |
| Tuft1 |
T |
C |
3: 94,521,440 (GRCm39) |
T390A |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,020,640 (GRCm39) |
I150T |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,481 (GRCm39) |
C149S |
possibly damaging |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,665 (GRCm39) |
N122K |
possibly damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,456 (GRCm39) |
C60R |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,128,494 (GRCm39) |
Y85* |
probably null |
Het |
| Wdr3 |
T |
C |
3: 100,062,252 (GRCm39) |
D221G |
probably benign |
Het |
| Wdr97 |
G |
A |
15: 76,244,832 (GRCm39) |
E1125K |
|
Het |
| Zan |
T |
C |
5: 137,403,624 (GRCm39) |
E3974G |
unknown |
Het |
|
| Other mutations in Lrrc4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TGCTATGCTCCCGTAATTGTG -3'
(R):5'- CCAATCGATCACTGGAGTGG -3'
Sequencing Primer
(F):5'- ATGCTCCCGTAATTGTGGAGCC -3'
(R):5'- CATCCTGAGAAGGTTCCATAGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation