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)
|
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
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: ENSMUST00000135431
AA Change: M319V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130984 Gene: ENSMUSG00000050587 AA Change: M319V
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: ENSMUST00000162807
AA Change: M319V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125218 Gene: ENSMUSG00000050587 AA Change: M319V
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 |
0.0584 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |