Incidental Mutation 'R7880:Lrrc4c'
| ID |
608678 |
| 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 |
045932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R7880 (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 G
at 97461143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 590
(I590V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059049]
[ENSMUST00000135431]
[ENSMUST00000162807]
[ENSMUST00000170144]
|
| AlphaFold |
Q8C031 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059049
AA Change: I590V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131795
Gene: ENSMUSG00000050587
AA Change: I590V
| 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: I590V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130984
Gene: ENSMUSG00000050587
AA Change: I590V
| 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: I590V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125218
Gene: ENSMUSG00000050587
AA Change: I590V
| 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: 99.8%
- 20x: 99.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
A |
7: 133,511,691 (GRCm39) |
D703V |
possibly damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Akap13 |
A |
G |
7: 75,235,964 (GRCm39) |
T180A |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,423,087 (GRCm39) |
A993V |
probably benign |
Het |
| Asxl3 |
C |
T |
18: 22,655,208 (GRCm39) |
P1073S |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,020,434 (GRCm39) |
S286A |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,326,116 (GRCm39) |
S1078F |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,182 (GRCm39) |
L799P |
probably benign |
Het |
| Chst13 |
C |
T |
6: 90,302,062 (GRCm39) |
R28H |
possibly damaging |
Het |
| CN725425 |
T |
A |
15: 91,130,308 (GRCm39) |
C390* |
probably null |
Het |
| Crabp1 |
C |
A |
9: 54,672,942 (GRCm39) |
C82* |
probably null |
Het |
| Cyp2b23 |
A |
C |
7: 26,372,559 (GRCm39) |
V352G |
probably damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,577,081 (GRCm39) |
V179E |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,012,702 (GRCm39) |
D839G |
possibly damaging |
Het |
| Espnl |
A |
T |
1: 91,272,488 (GRCm39) |
E616V |
possibly damaging |
Het |
| Fam50b |
C |
A |
13: 34,930,802 (GRCm39) |
Q93K |
probably benign |
Het |
| Focad |
C |
T |
4: 88,319,407 (GRCm39) |
R1539C |
unknown |
Het |
| Gm14443 |
T |
A |
2: 175,011,163 (GRCm39) |
I428L |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gramd1c |
C |
G |
16: 43,812,439 (GRCm39) |
A193P |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,173,939 (GRCm39) |
H54R |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,194,712 (GRCm39) |
I902F |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,761 (GRCm39) |
H210L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,539,879 (GRCm39) |
S280P |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,506 (GRCm39) |
R4827L |
probably damaging |
Het |
| Igsf21 |
A |
G |
4: 139,884,819 (GRCm39) |
C46R |
probably damaging |
Het |
| Kansl1 |
G |
T |
11: 104,314,979 (GRCm39) |
A353D |
probably damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,222,290 (GRCm39) |
Y311C |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,006,778 (GRCm39) |
I24T |
possibly damaging |
Het |
| Lpcat4 |
C |
A |
2: 112,070,376 (GRCm39) |
H30N |
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,703,946 (GRCm39) |
I291M |
possibly damaging |
Het |
| Nsun6 |
A |
C |
2: 15,001,190 (GRCm39) |
C455W |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,434 (GRCm39) |
C134* |
probably null |
Het |
| Or4c3 |
A |
T |
2: 89,852,381 (GRCm39) |
F10I |
probably damaging |
Het |
| Or5ak22 |
G |
T |
2: 85,230,379 (GRCm39) |
S166Y |
possibly damaging |
Het |
| Or7g19 |
T |
G |
9: 18,856,024 (GRCm39) |
L27V |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,031,873 (GRCm39) |
I162T |
probably benign |
Het |
| Pex13 |
A |
T |
11: 23,599,369 (GRCm39) |
S381T |
probably benign |
Het |
| Ppil1 |
G |
A |
17: 29,480,762 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,170,155 (GRCm39) |
I766V |
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,422,159 (GRCm39) |
V187M |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,686,954 (GRCm39) |
I1022N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,191,132 (GRCm39) |
T953A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,119,393 (GRCm39) |
R235G |
probably benign |
Het |
| Stx5a |
G |
A |
19: 8,719,692 (GRCm39) |
G19D |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,577,726 (GRCm39) |
R532* |
probably null |
Het |
| Tmpo |
T |
A |
10: 91,001,892 (GRCm39) |
K106* |
probably null |
Het |
| Trnt1 |
T |
C |
6: 106,746,517 (GRCm39) |
|
probably null |
Het |
| Vmn1r228 |
A |
T |
17: 20,996,672 (GRCm39) |
I282N |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,907,684 (GRCm39) |
|
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,468,718 (GRCm39) |
I51V |
unknown |
Het |
| Zfp787 |
A |
G |
7: 6,135,190 (GRCm39) |
F354L |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,794,332 (GRCm39) |
V111A |
probably benign |
Het |
| Zwint |
G |
T |
10: 72,492,924 (GRCm39) |
R182L |
probably benign |
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 |
|
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'- CCCAGGAATTGATGAGGTCATG -3'
(R):5'- AGATTTAGCCCAGTCATTTGTGTC -3'
Sequencing Primer
(F):5'- CCAGGAATTGATGAGGTCATGAAAAC -3'
(R):5'- CGGTTCATGCACTGAACT -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation