Incidental Mutation 'R8376:Lrrc4b'
| ID |
646678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc4b
|
| Ensembl Gene |
ENSMUSG00000047085 |
| Gene Name |
leucine rich repeat containing 4B |
| Synonyms |
NGL-3, Lrig4, Ngl3 |
| MMRRC Submission |
067744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44091911-44112775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44112018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 630
(V630A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035929]
[ENSMUST00000058667]
[ENSMUST00000127790]
[ENSMUST00000135624]
[ENSMUST00000146128]
[ENSMUST00000152902]
[ENSMUST00000156093]
[ENSMUST00000156957]
|
| 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 benign
Transcript: ENSMUST00000058667
AA Change: V630A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: V630A
| 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 |
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 |
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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
C |
8: 25,409,936 (GRCm39) |
I173S |
possibly damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,610,520 (GRCm39) |
D599G |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atp12a |
G |
T |
14: 56,612,083 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
T |
17: 74,896,635 (GRCm39) |
T1027M |
probably benign |
Het |
| Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,888,414 (GRCm39) |
N67K |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,832,073 (GRCm39) |
R745H |
probably damaging |
Het |
| Cacnb4 |
G |
A |
2: 52,354,665 (GRCm39) |
Q238* |
probably null |
Het |
| Cdc42 |
G |
A |
4: 137,056,205 (GRCm39) |
T102I |
probably benign |
Het |
| Cfhr1 |
A |
C |
1: 139,475,549 (GRCm39) |
C307W |
unknown |
Het |
| Ddb1 |
G |
A |
19: 10,596,669 (GRCm39) |
V463M |
probably damaging |
Het |
| Dhx30 |
G |
A |
9: 109,917,707 (GRCm39) |
R365C |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,023,303 (GRCm39) |
F1005L |
probably damaging |
Het |
| Elp4 |
A |
G |
2: 105,672,653 (GRCm39) |
V144A |
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,773,491 (GRCm39) |
N77Y |
probably damaging |
Het |
| Fsip1 |
C |
T |
2: 118,063,519 (GRCm39) |
V317I |
possibly damaging |
Het |
| Gc |
G |
A |
5: 89,586,118 (GRCm39) |
Q341* |
probably null |
Het |
| Gpt2 |
A |
T |
8: 86,219,694 (GRCm39) |
I47F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,272,968 (GRCm39) |
S503T |
probably benign |
Het |
| Kcnn4 |
C |
A |
7: 24,077,051 (GRCm39) |
T200K |
possibly damaging |
Het |
| Krtap4-7 |
A |
G |
11: 99,534,753 (GRCm39) |
S37P |
unknown |
Het |
| Man2a2 |
C |
T |
7: 80,010,671 (GRCm39) |
W773* |
probably null |
Het |
| Mgrn1 |
T |
A |
16: 4,733,630 (GRCm39) |
L192Q |
probably damaging |
Het |
| Mtx1 |
A |
G |
3: 89,121,478 (GRCm39) |
V52A |
probably benign |
Het |
| Myc |
A |
T |
15: 61,859,395 (GRCm39) |
N24Y |
possibly damaging |
Het |
| Nbea |
G |
A |
3: 55,551,076 (GRCm39) |
S2696L |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 87,023,592 (GRCm39) |
N493D |
probably damaging |
Het |
| Or52w1 |
C |
A |
7: 105,017,847 (GRCm39) |
P105T |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,052,661 (GRCm39) |
G403D |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,518,684 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,426,947 (GRCm39) |
I703V |
possibly damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pkd1l3 |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
8: 110,350,420 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,944,071 (GRCm39) |
S36P |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,196,179 (GRCm39) |
F279L |
probably damaging |
Het |
| Prl7a1 |
T |
G |
13: 27,821,638 (GRCm39) |
E99D |
probably benign |
Het |
| Rnf4 |
C |
T |
5: 34,508,701 (GRCm39) |
R188W |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGAGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scel |
A |
G |
14: 103,809,451 (GRCm39) |
S264G |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,144,376 (GRCm39) |
Q1712R |
possibly damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,718,115 (GRCm39) |
Y255H |
probably benign |
Het |
| Syne1 |
C |
T |
10: 4,993,615 (GRCm39) |
G525D |
probably benign |
Het |
| Taldo1 |
T |
C |
7: 140,981,788 (GRCm39) |
V214A |
probably damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,889,853 (GRCm39) |
T428A |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,112,455 (GRCm39) |
K151E |
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,253,721 (GRCm39) |
D1468V |
probably benign |
Het |
| Ubtf |
A |
C |
11: 102,199,737 (GRCm39) |
Y463D |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,314,697 (GRCm39) |
M106L |
probably damaging |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,869 (GRCm39) |
I185L |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,230 (GRCm39) |
V296D |
probably damaging |
Het |
| Zfp65 |
A |
C |
13: 67,857,037 (GRCm39) |
Y81D |
probably damaging |
Het |
| Zw10 |
A |
T |
9: 48,988,783 (GRCm39) |
Y683F |
possibly damaging |
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 |
|
R3820:Lrrc4b
|
UTSW |
7 |
44,111,982 (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 |
|
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'- TGCGCTTAAGGACCTAGACG -3'
(R):5'- CTTGAAGAGCAGAGGTTCGTG -3'
Sequencing Primer
(F):5'- CGCTTAAGGACCTAGACGATGTC -3'
(R):5'- CGTGGATGGAGTTGAGGCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation