Incidental Mutation 'R3820:Lrrc4b'
| ID |
274857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc4b
|
| Ensembl Gene |
ENSMUSG00000047085 |
| Gene Name |
leucine rich repeat containing 4B |
| Synonyms |
NGL-3, Lrig4, Ngl3 |
| MMRRC Submission |
040882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3820 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44091911-44112775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44111982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 618
(V618E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035929]
[ENSMUST00000058667]
[ENSMUST00000127790]
[ENSMUST00000135624]
[ENSMUST00000146128]
[ENSMUST00000152902]
[ENSMUST00000156957]
[ENSMUST00000156093]
|
| AlphaFold |
P0C192 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS AND IMMUNOGLOBULIN DOMAIN OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035929
|
| SMART Domains |
Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_3
|
17 |
128 |
3.8e-24 |
PFAM |
|
Pfam:DUF108
|
174 |
265 |
2.9e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058667
AA Change: V618E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: V618E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
LRRNT
|
58 |
92 |
5.6e-8 |
SMART |
|
LRR
|
91 |
110 |
1.62e2 |
SMART |
|
LRR
|
111 |
134 |
1.16e-1 |
SMART |
|
LRR_TYP
|
135 |
158 |
8.22e-2 |
SMART |
|
LRR_TYP
|
159 |
182 |
5.99e-4 |
SMART |
|
LRR
|
208 |
229 |
1.62e2 |
SMART |
|
LRR_TYP
|
230 |
253 |
3.63e-3 |
SMART |
|
LRR
|
254 |
277 |
9.75e0 |
SMART |
|
LRR_TYP
|
278 |
301 |
5.29e-5 |
SMART |
|
LRRCT
|
313 |
364 |
1.92e-3 |
SMART |
|
IGc2
|
378 |
445 |
1.45e-9 |
SMART |
|
low complexity region
|
462 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
547 |
N/A |
INTRINSIC |
|
transmembrane domain
|
573 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127790
|
| SMART Domains |
Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
LRRNT
|
58 |
92 |
5.6e-8 |
SMART |
|
LRR
|
91 |
110 |
1.62e2 |
SMART |
|
LRR
|
111 |
134 |
1.16e-1 |
SMART |
|
LRR_TYP
|
135 |
158 |
8.22e-2 |
SMART |
|
LRR_TYP
|
159 |
182 |
5.99e-4 |
SMART |
|
Blast:LRR
|
183 |
207 |
2e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146128
|
| SMART Domains |
Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_3
|
5 |
110 |
1e-19 |
PFAM |
|
Pfam:DUF108
|
153 |
252 |
7.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156957
|
| SMART Domains |
Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF108
|
52 |
151 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156093
|
| SMART Domains |
Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
|
LRRNT
|
58 |
92 |
5.6e-8 |
SMART |
|
LRR
|
91 |
110 |
1.62e2 |
SMART |
|
LRR
|
111 |
134 |
1.16e-1 |
SMART |
|
LRR_TYP
|
135 |
158 |
8.22e-2 |
SMART |
|
LRR_TYP
|
159 |
182 |
5.99e-4 |
SMART |
|
Blast:LRR
|
183 |
207 |
2e-6 |
BLAST |
|
LRR
|
208 |
230 |
3.65e1 |
SMART |
|
| Meta Mutation Damage Score |
0.7103 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
T |
18: 6,630,166 (GRCm39) |
|
probably null |
Het |
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
| Adam6a |
T |
C |
12: 113,507,798 (GRCm39) |
I57T |
probably benign |
Het |
| Adam6b |
C |
T |
12: 113,453,984 (GRCm39) |
T267I |
probably benign |
Het |
| Ap1g2 |
G |
A |
14: 55,338,030 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
G |
A |
14: 33,089,378 (GRCm39) |
E455K |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,094,583 (GRCm39) |
V917I |
probably damaging |
Het |
| Ccdc93 |
T |
C |
1: 121,389,969 (GRCm39) |
I253T |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Edar |
T |
C |
10: 58,457,185 (GRCm39) |
Y131C |
probably damaging |
Het |
| Eif5 |
A |
T |
12: 111,506,618 (GRCm39) |
R43* |
probably null |
Het |
| Eml4 |
C |
A |
17: 83,780,494 (GRCm39) |
T667K |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,102,510 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,636,827 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,424,270 (GRCm39) |
I3056F |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgb3 |
C |
A |
11: 104,524,438 (GRCm39) |
Y191* |
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,350,006 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,904 (GRCm39) |
H486R |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,277 (GRCm39) |
N950S |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Micall2 |
C |
T |
5: 139,701,611 (GRCm39) |
G461D |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
| Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,811,419 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,659,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Prkar2a |
T |
G |
9: 108,624,155 (GRCm39) |
F391V |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,328 (GRCm39) |
C1056R |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,218,862 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,802,802 (GRCm39) |
Y112* |
probably null |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Tdrd5 |
A |
G |
1: 156,113,053 (GRCm39) |
V409A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,964,813 (GRCm39) |
N1436I |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,838,240 (GRCm39) |
S870R |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,143 (GRCm39) |
P509S |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,769,438 (GRCm39) |
C264S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,657,381 (GRCm39) |
K521* |
probably null |
Het |
|
| Other mutations in Lrrc4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0165:Lrrc4b
|
UTSW |
7 |
44,111,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1398:Lrrc4b
|
UTSW |
7 |
44,111,876 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1421:Lrrc4b
|
UTSW |
7 |
44,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1622:Lrrc4b
|
UTSW |
7 |
44,111,654 (GRCm39) |
unclassified |
probably benign |
|
|
R1681:Lrrc4b
|
UTSW |
7 |
44,110,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1778:Lrrc4b
|
UTSW |
7 |
44,111,823 (GRCm39) |
missense |
probably benign |
|
|
R1967:Lrrc4b
|
UTSW |
7 |
44,111,654 (GRCm39) |
unclassified |
probably benign |
|
|
R1989:Lrrc4b
|
UTSW |
7 |
44,111,654 (GRCm39) |
unclassified |
probably benign |
|
|
R2427:Lrrc4b
|
UTSW |
7 |
44,111,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3822:Lrrc4b
|
UTSW |
7 |
44,111,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Lrrc4b
|
UTSW |
7 |
44,111,796 (GRCm39) |
splice site |
probably null |
|
|
R5249:Lrrc4b
|
UTSW |
7 |
44,111,988 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5268:Lrrc4b
|
UTSW |
7 |
44,110,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Lrrc4b
|
UTSW |
7 |
44,111,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6984:Lrrc4b
|
UTSW |
7 |
44,110,722 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7003:Lrrc4b
|
UTSW |
7 |
44,094,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Lrrc4b
|
UTSW |
7 |
44,111,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Lrrc4b
|
UTSW |
7 |
44,111,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Lrrc4b
|
UTSW |
7 |
44,111,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7596:Lrrc4b
|
UTSW |
7 |
44,111,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Lrrc4b
|
UTSW |
7 |
44,111,231 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7836:Lrrc4b
|
UTSW |
7 |
44,094,316 (GRCm39) |
start gained |
probably benign |
|
|
R8116:Lrrc4b
|
UTSW |
7 |
44,110,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Lrrc4b
|
UTSW |
7 |
44,111,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8376:Lrrc4b
|
UTSW |
7 |
44,112,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9226:Lrrc4b
|
UTSW |
7 |
44,112,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9674:Lrrc4b
|
UTSW |
7 |
44,111,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrrc4b
|
UTSW |
7 |
44,110,736 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Lrrc4b
|
UTSW |
7 |
44,094,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lrrc4b
|
UTSW |
7 |
44,111,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lrrc4b
|
UTSW |
7 |
44,094,404 (GRCm39) |
missense |
unknown |
|
|
Z1177:Lrrc4b
|
UTSW |
7 |
44,094,403 (GRCm39) |
missense |
unknown |
|
|
Z1177:Lrrc4b
|
UTSW |
7 |
44,112,041 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCTTAAGGACCTAGACGATG -3'
(R):5'- CTTGAAGAGCAGAGGTTCGTG -3'
Sequencing Primer
(F):5'- CTTAAGGACCTAGACGATGTCATG -3'
(R):5'- CGTGGATGGAGTTGAGGCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation