Incidental Mutation 'R7723:Lrrc4c'
| ID |
595317 |
| 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 |
045779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R7723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
96148514-97462011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97460999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 542
(V542L)
|
| 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: V542L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131795
Gene: ENSMUSG00000050587
AA Change: V542L
| 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: V542L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130984
Gene: ENSMUSG00000050587
AA Change: V542L
| 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: V542L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125218
Gene: ENSMUSG00000050587
AA Change: V542L
| 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
|
| Meta Mutation Damage Score |
0.1113 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
C |
T |
1: 146,577,409 (GRCm39) |
T148I |
probably damaging |
Het |
| C1qa |
A |
T |
4: 136,623,744 (GRCm39) |
C153* |
probably null |
Het |
| Camkk1 |
G |
T |
11: 72,928,058 (GRCm39) |
R363L |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,946,798 (GRCm39) |
|
probably null |
Het |
| Cenpu |
T |
C |
8: 47,029,349 (GRCm39) |
S351P |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,741,837 (GRCm39) |
L1609F |
unknown |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,016,154 (GRCm39) |
I4F |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,475,236 (GRCm39) |
V93A |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,499,786 (GRCm39) |
M785L |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,223,954 (GRCm39) |
C598* |
probably null |
Het |
| Fer |
T |
C |
17: 64,203,273 (GRCm39) |
S68P |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,279,158 (GRCm39) |
T22I |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,945,415 (GRCm39) |
D278G |
possibly damaging |
Het |
| Kdm1a |
C |
T |
4: 136,285,060 (GRCm39) |
V520I |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,427 (GRCm39) |
T247A |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,717 (GRCm39) |
S4929G |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,822,324 (GRCm39) |
H428Q |
possibly damaging |
Het |
| Mink1 |
C |
G |
11: 70,503,736 (GRCm39) |
Q1183E |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,687,141 (GRCm39) |
P82L |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,320,784 (GRCm39) |
T102A |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,486,375 (GRCm39) |
I230T |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,965,347 (GRCm39) |
T1644S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5j |
A |
T |
9: 39,867,920 (GRCm39) |
Y104N |
possibly damaging |
Het |
| Or13p10 |
A |
G |
4: 118,522,914 (GRCm39) |
S67G |
probably benign |
Het |
| Or2at4 |
A |
G |
7: 99,384,884 (GRCm39) |
Y178C |
possibly damaging |
Het |
| Or2l13b |
A |
T |
16: 19,349,358 (GRCm39) |
L104* |
probably null |
Het |
| Or5d44 |
A |
C |
2: 88,141,819 (GRCm39) |
V107G |
possibly damaging |
Het |
| Palld |
C |
T |
8: 62,164,492 (GRCm39) |
V400I |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,258 (GRCm39) |
V261A |
probably damaging |
Het |
| Pcdhb3 |
C |
A |
18: 37,435,565 (GRCm39) |
N510K |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,325 (GRCm39) |
Y79N |
probably damaging |
Het |
| Phc2 |
C |
T |
4: 128,616,882 (GRCm39) |
A385V |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,785,942 (GRCm39) |
T771A |
possibly damaging |
Het |
| Psmb6 |
T |
C |
11: 70,417,396 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,091,639 (GRCm39) |
T487A |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,298 (GRCm39) |
M595K |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,752 (GRCm39) |
V14D |
probably benign |
Het |
| Scn3b |
C |
A |
9: 40,199,693 (GRCm39) |
S203* |
probably null |
Het |
| Serinc1 |
G |
A |
10: 57,403,918 (GRCm39) |
P15L |
probably benign |
Het |
| Six2 |
A |
G |
17: 85,995,103 (GRCm39) |
I93T |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,854,795 (GRCm39) |
I619F |
probably damaging |
Het |
| Snx25 |
A |
C |
8: 46,491,516 (GRCm39) |
V858G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,441,572 (GRCm39) |
C1903Y |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,832,867 (GRCm39) |
I156N |
probably benign |
Het |
| Tasp1 |
G |
T |
2: 139,827,051 (GRCm39) |
T189K |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,936,851 (GRCm39) |
M1399K |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,278,232 (GRCm39) |
C1092F |
probably damaging |
Het |
| Tmem150a |
G |
A |
6: 72,336,057 (GRCm39) |
V215I |
probably damaging |
Het |
| Tmem176b |
C |
T |
6: 48,812,869 (GRCm39) |
V109I |
probably benign |
Het |
| Trav8d-1 |
T |
A |
14: 53,016,321 (GRCm39) |
I69K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,638,419 (GRCm39) |
L13954I |
probably damaging |
Het |
| Veph1 |
C |
A |
3: 66,113,093 (GRCm39) |
C237F |
possibly damaging |
Het |
| Vmn1r121 |
G |
A |
7: 20,832,119 (GRCm39) |
T107I |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,458,567 (GRCm39) |
M300I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,673 (GRCm39) |
D1089G |
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 |
|
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 |
|
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'- TCCAGTGATCGATTGGGAGAC -3'
(R):5'- CGGATCAATAACGGTTCATGC -3'
Sequencing Primer
(F):5'- CCACCAATGTAACCACATCTCTTACG -3'
(R):5'- TTCATGCACTGAACTGTGTATTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation