Incidental Mutation 'R3840:Lrrc4c'
ID |
277097 |
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 |
040780-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R3840 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
96148514-97462011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97460537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 388
(T388A)
|
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: T388A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131795 Gene: ENSMUSG00000050587 AA Change: T388A
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: T388A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130984 Gene: ENSMUSG00000050587 AA Change: T388A
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: T388A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125218 Gene: ENSMUSG00000050587 AA Change: T388A
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
|
Meta Mutation Damage Score |
0.1185 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
Abcc8 |
A |
G |
7: 45,757,524 (GRCm39) |
I1375T |
possibly damaging |
Het |
Ate1 |
A |
T |
7: 130,117,867 (GRCm39) |
D39E |
probably damaging |
Het |
BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
Cdca2 |
A |
T |
14: 67,917,720 (GRCm39) |
Y559* |
probably null |
Het |
Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
Cntnap5b |
C |
T |
1: 100,311,202 (GRCm39) |
T936I |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,805,810 (GRCm39) |
N1032S |
unknown |
Het |
Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
Erbb3 |
A |
T |
10: 128,406,193 (GRCm39) |
F1075I |
probably benign |
Het |
F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
Fam171b |
C |
A |
2: 83,710,406 (GRCm39) |
Q693K |
possibly damaging |
Het |
Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
Fmn2 |
GAAGA |
GAAGAAAGA |
1: 174,409,599 (GRCm39) |
|
probably null |
Het |
Gask1b |
T |
A |
3: 79,815,897 (GRCm39) |
D302E |
probably benign |
Het |
Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
Kcnu1 |
G |
T |
8: 26,375,380 (GRCm39) |
V365L |
possibly damaging |
Het |
Mastl |
T |
C |
2: 23,030,563 (GRCm39) |
D202G |
probably damaging |
Het |
Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
Mideas |
T |
C |
12: 84,218,383 (GRCm39) |
R526G |
probably damaging |
Het |
Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,239 (GRCm39) |
S73P |
probably damaging |
Het |
Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
Pcdhga11 |
A |
T |
18: 37,890,602 (GRCm39) |
N537Y |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,839,050 (GRCm39) |
Y878C |
probably damaging |
Het |
Podxl |
C |
T |
6: 31,500,016 (GRCm39) |
V485I |
probably damaging |
Het |
Psmd12 |
T |
C |
11: 107,376,398 (GRCm39) |
I44T |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
Slc22a13 |
T |
C |
9: 119,037,855 (GRCm39) |
D91G |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,721,618 (GRCm39) |
V74M |
probably damaging |
Het |
Tmem87b |
T |
A |
2: 128,668,304 (GRCm39) |
L150* |
probably null |
Het |
Tmprss7 |
T |
A |
16: 45,481,195 (GRCm39) |
R664* |
probably null |
Het |
Tnfrsf11b |
T |
A |
15: 54,115,478 (GRCm39) |
H373L |
probably damaging |
Het |
Tnfrsf23 |
A |
G |
7: 143,235,266 (GRCm39) |
S33P |
probably benign |
Het |
Tro |
A |
G |
X: 149,429,198 (GRCm39) |
|
probably benign |
Het |
Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
Wac |
C |
A |
18: 7,918,535 (GRCm39) |
P416H |
probably damaging |
Het |
Zap70 |
T |
A |
1: 36,817,498 (GRCm39) |
I247N |
probably damaging |
Het |
Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
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 |
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'- TGGCTCAGCTGGTGGATAAG -3'
(R):5'- TAACATTCAAGGTGGCAGAAGC -3'
Sequencing Primer
(F):5'- TGTGCCAGGTGTAACACTC -3'
(R):5'- CAGAAGCAGTGGTGTTGCC -3'
|
Posted On |
2015-04-06 |