Incidental Mutation 'R3552:Lrrc4c'
ID |
268973 |
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 |
040669-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R3552 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
96148514-97462011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97460306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 311
(W311R)
|
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: W311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131795 Gene: ENSMUSG00000050587 AA Change: W311R
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: W311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130984 Gene: ENSMUSG00000050587 AA Change: W311R
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: W311R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125218 Gene: ENSMUSG00000050587 AA Change: W311R
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 |
0.9510 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (66/66) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
Agk |
A |
G |
6: 40,371,615 (GRCm39) |
T371A |
probably benign |
Het |
Akna |
T |
C |
4: 63,316,361 (GRCm39) |
M1V |
probably null |
Het |
Aldh7a1 |
T |
C |
18: 56,683,364 (GRCm39) |
|
probably null |
Het |
Ankrd26 |
A |
T |
6: 118,484,737 (GRCm39) |
L1500H |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,129,584 (GRCm39) |
D452V |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,167,598 (GRCm39) |
T1333M |
possibly damaging |
Het |
Carmil3 |
G |
T |
14: 55,744,859 (GRCm39) |
R1276L |
possibly damaging |
Het |
Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
Chrm2 |
A |
T |
6: 36,500,745 (GRCm39) |
I201F |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,970,834 (GRCm39) |
T618A |
probably benign |
Het |
Dele1 |
A |
G |
18: 38,391,418 (GRCm39) |
|
probably benign |
Het |
Dock2 |
T |
C |
11: 34,611,787 (GRCm39) |
Y192C |
probably benign |
Het |
Ep400 |
T |
A |
5: 110,877,153 (GRCm39) |
E821V |
unknown |
Het |
Esrrg |
G |
A |
1: 187,882,387 (GRCm39) |
V215I |
probably benign |
Het |
Evx1 |
A |
T |
6: 52,293,908 (GRCm39) |
S359C |
probably damaging |
Het |
Fcrl2 |
A |
G |
3: 87,166,717 (GRCm39) |
I92T |
possibly damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,110 (GRCm39) |
F106I |
possibly damaging |
Het |
Gm9944 |
T |
C |
4: 144,179,613 (GRCm39) |
|
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
Kcnh1 |
A |
G |
1: 191,921,074 (GRCm39) |
N118D |
probably damaging |
Het |
Khdrbs1 |
A |
G |
4: 129,614,584 (GRCm39) |
I323T |
possibly damaging |
Het |
Klhdc7b |
T |
C |
15: 89,271,724 (GRCm39) |
Y869H |
probably benign |
Het |
Megf11 |
A |
G |
9: 64,602,745 (GRCm39) |
D862G |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,421,442 (GRCm39) |
S4311G |
probably benign |
Het |
Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
Neo1 |
T |
A |
9: 58,801,161 (GRCm39) |
K1140M |
probably damaging |
Het |
Oc90 |
T |
C |
15: 65,750,650 (GRCm39) |
Q365R |
possibly damaging |
Het |
Oplah |
C |
T |
15: 76,186,294 (GRCm39) |
D734N |
possibly damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
Or4c58 |
A |
C |
2: 89,674,687 (GRCm39) |
M210R |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,237 (GRCm39) |
N161S |
possibly damaging |
Het |
Pbx1 |
G |
A |
1: 167,986,362 (GRCm39) |
P411L |
possibly damaging |
Het |
Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
Phox2b |
C |
A |
5: 67,254,999 (GRCm39) |
R150L |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,172,848 (GRCm39) |
E169G |
probably damaging |
Het |
Ptprn2 |
A |
T |
12: 116,852,497 (GRCm39) |
Q518L |
probably benign |
Het |
Rbl1 |
A |
T |
2: 157,037,505 (GRCm39) |
I214K |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,582,132 (GRCm39) |
I2854F |
probably damaging |
Het |
Shtn1 |
T |
C |
19: 58,963,470 (GRCm39) |
Y615C |
probably benign |
Het |
Sirt5 |
A |
T |
13: 43,536,643 (GRCm39) |
N226Y |
probably damaging |
Het |
Slc30a3 |
G |
A |
5: 31,252,422 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,917,358 (GRCm39) |
V226A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,923,390 (GRCm39) |
S68* |
probably null |
Het |
Smyd5 |
G |
A |
6: 85,419,193 (GRCm39) |
E292K |
probably damaging |
Het |
Spns1 |
A |
G |
7: 125,969,543 (GRCm39) |
V512A |
possibly damaging |
Het |
Sry |
T |
A |
Y: 2,663,141 (GRCm39) |
Q173L |
unknown |
Het |
Ssrp1 |
C |
A |
2: 84,874,736 (GRCm39) |
Q519K |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,287,705 (GRCm39) |
E498G |
probably damaging |
Het |
Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,937,695 (GRCm39) |
E3861D |
probably damaging |
Het |
Trbc1 |
G |
T |
6: 41,516,579 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
T |
A |
2: 126,668,630 (GRCm39) |
|
probably benign |
Het |
Usp39 |
G |
A |
6: 72,314,815 (GRCm39) |
T197I |
possibly damaging |
Het |
Vmn1r38 |
T |
C |
6: 66,753,477 (GRCm39) |
H213R |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,197,529 (GRCm39) |
D168G |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,382,720 (GRCm39) |
I45V |
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,339 (GRCm39) |
E493G |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
Zfp735 |
C |
A |
11: 73,602,067 (GRCm39) |
S337* |
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 |
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 |
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'- AATCAGGCCTGGCTCTTTTC -3'
(R):5'- AGTGACATTGAGGTCTGCAGG -3'
Sequencing Primer
(F):5'- GGGTTGATGCACCTTCAAAAACTG -3'
(R):5'- TGCAGGGGGCTCCACAATTAC -3'
|
Posted On |
2015-02-19 |