Incidental Mutation 'R5323:Lrrc4c'
| ID |
404950 |
| 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 |
042906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R5323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
96148514-97462011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97460498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 375
(C375S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059049]
[ENSMUST00000135431]
[ENSMUST00000162807]
[ENSMUST00000170144]
|
| AlphaFold |
Q8C031 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059049
AA Change: C375S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131795
Gene: ENSMUSG00000050587
AA Change: C375S
| 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 damaging
Transcript: ENSMUST00000135431
AA Change: C375S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130984
Gene: ENSMUSG00000050587
AA Change: C375S
| 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 damaging
Transcript: ENSMUST00000162807
AA Change: C375S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125218
Gene: ENSMUSG00000050587
AA Change: C375S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199276
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
A |
7: 82,206,269 (GRCm39) |
C784S |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,745,989 (GRCm39) |
|
probably benign |
Het |
| Apon |
A |
G |
10: 128,090,907 (GRCm39) |
E195G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,275,944 (GRCm39) |
I334V |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,855,823 (GRCm39) |
A145E |
probably damaging |
Het |
| Capns1 |
G |
T |
7: 29,887,147 (GRCm39) |
F243L |
possibly damaging |
Het |
| Catsper2 |
A |
T |
2: 121,237,216 (GRCm39) |
I228N |
probably damaging |
Het |
| Ceacam14 |
A |
T |
7: 17,549,402 (GRCm39) |
*264C |
probably null |
Het |
| Cel |
A |
C |
2: 28,450,530 (GRCm39) |
V165G |
probably damaging |
Het |
| Cldnd1 |
T |
A |
16: 58,550,016 (GRCm39) |
D66E |
possibly damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,311,275 (GRCm39) |
C589* |
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,620,234 (GRCm39) |
H1554L |
probably damaging |
Het |
| Fbxw25 |
T |
A |
9: 109,492,573 (GRCm39) |
M55L |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,591 (GRCm39) |
H2187R |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,489 (GRCm39) |
T4741A |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,653,934 (GRCm39) |
I272N |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,886,049 (GRCm39) |
S212P |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,495 (GRCm39) |
|
probably null |
Het |
| Hpgds |
T |
C |
6: 65,109,169 (GRCm39) |
T81A |
probably benign |
Het |
| Insr |
G |
A |
8: 3,252,902 (GRCm39) |
T419I |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,140,059 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,799,289 (GRCm39) |
I951V |
possibly damaging |
Het |
| Muc17 |
G |
T |
5: 137,175,537 (GRCm39) |
C44* |
probably null |
Het |
| Mycbpap |
A |
T |
11: 94,394,330 (GRCm39) |
D313E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,813,931 (GRCm39) |
|
probably null |
Het |
| Ntsr2 |
C |
T |
12: 16,709,934 (GRCm39) |
S405F |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,870,682 (GRCm39) |
P21S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,887,703 (GRCm39) |
E7705D |
probably benign |
Het |
| Ogn |
A |
G |
13: 49,762,817 (GRCm39) |
D53G |
probably benign |
Het |
| Or10d5j |
A |
T |
9: 39,868,125 (GRCm39) |
Y35* |
probably null |
Het |
| Or14j10 |
A |
T |
17: 37,935,046 (GRCm39) |
I160K |
probably benign |
Het |
| Or5k8 |
G |
A |
16: 58,645,066 (GRCm39) |
T2I |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,413,883 (GRCm39) |
F33L |
possibly damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,980 (GRCm39) |
I199F |
possibly damaging |
Het |
| Pde6a |
G |
A |
18: 61,365,983 (GRCm39) |
R236H |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,443,837 (GRCm39) |
M85K |
probably damaging |
Het |
| Pirb |
A |
C |
7: 3,719,598 (GRCm39) |
I516S |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,794,706 (GRCm39) |
I737N |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,818,215 (GRCm39) |
C159S |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,452,573 (GRCm39) |
N125S |
probably benign |
Het |
| Sgip1 |
C |
A |
4: 102,823,477 (GRCm39) |
N699K |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,046,041 (GRCm39) |
|
probably null |
Het |
| Smcp |
C |
T |
3: 92,491,454 (GRCm39) |
G131D |
unknown |
Het |
| St8sia6 |
A |
G |
2: 13,798,188 (GRCm39) |
L23P |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,699,276 (GRCm39) |
T335S |
probably benign |
Het |
| Stox1 |
G |
A |
10: 62,499,812 (GRCm39) |
A916V |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,785,753 (GRCm39) |
T297S |
probably benign |
Het |
| Tert |
G |
T |
13: 73,796,490 (GRCm39) |
A1074S |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,385,187 (GRCm39) |
D135E |
probably damaging |
Het |
| Tmem132a |
G |
A |
19: 10,841,371 (GRCm39) |
H318Y |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,738,249 (GRCm39) |
S4097P |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,553,874 (GRCm39) |
|
probably null |
Het |
| Usp36 |
A |
T |
11: 118,156,020 (GRCm39) |
S586T |
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,388,244 (GRCm39) |
S71G |
probably benign |
Het |
| Zfp318 |
G |
A |
17: 46,697,662 (GRCm39) |
D173N |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,939,076 (GRCm39) |
S936T |
probably damaging |
Het |
| Zic2 |
A |
G |
14: 122,713,728 (GRCm39) |
Y214C |
probably damaging |
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 |
|
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'- GTGGATAAGAGACATGGCCC -3'
(R):5'- GGTTGCCGCAGTAACATTCAAG -3'
Sequencing Primer
(F):5'- GATAAGAGACATGGCCCCCTCC -3'
(R):5'- GGTGTTGCCAACAGAATTACTCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation