Incidental Mutation 'R6856:Adgrl4'
| ID |
535243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrl4
|
| Ensembl Gene |
ENSMUSG00000039167 |
| Gene Name |
adhesion G protein-coupled receptor L4 |
| Synonyms |
EGF-TM7 receptor, Eltd1, 1110033N21Rik, Etl |
| MMRRC Submission |
044958-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151205755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 156
(M156V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
[ENSMUST00000196970]
|
| AlphaFold |
Q923X1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046977
AA Change: M206V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041939
Gene: ENSMUSG00000039167
AA Change: M206V
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
21 |
57 |
9.13e0 |
SMART |
|
EGF_CA
|
58 |
107 |
4.88e-9 |
SMART |
|
EGF_CA
|
108 |
157 |
4.88e-9 |
SMART |
|
Pfam:GAIN
|
182 |
390 |
6.8e-38 |
PFAM |
|
GPS
|
414 |
467 |
1.25e-17 |
SMART |
|
Pfam:7tm_2
|
473 |
709 |
2.5e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196970
AA Change: M156V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143744
Gene: ENSMUSG00000039167
AA Change: M156V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
21 |
57 |
4.5e-2 |
SMART |
|
EGF_CA
|
58 |
107 |
2.5e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: For a targeted mutation, no significant differences were detected between homozygous mice and controls in a high-throughput screen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aire |
A |
T |
10: 77,866,089 (GRCm39) |
F546I |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,331,320 (GRCm39) |
E230G |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,279,397 (GRCm39) |
K86N |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,532,953 (GRCm39) |
I47V |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,112,916 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,625,158 (GRCm39) |
W1652R |
probably damaging |
Het |
| Atad2 |
T |
A |
15: 57,970,209 (GRCm39) |
H464L |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,673 (GRCm39) |
H1146N |
possibly damaging |
Het |
| Capn9 |
G |
A |
8: 125,324,308 (GRCm39) |
V203M |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,474,881 (GRCm39) |
S29T |
probably benign |
Het |
| Cfap99 |
G |
T |
5: 34,467,561 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
C |
T |
7: 44,609,342 (GRCm39) |
G716S |
probably damaging |
Het |
| Dhx29 |
A |
T |
13: 113,089,395 (GRCm39) |
Q722L |
probably benign |
Het |
| Dmxl1 |
C |
T |
18: 49,985,355 (GRCm39) |
R201* |
probably null |
Het |
| Dsg2 |
G |
A |
18: 20,734,859 (GRCm39) |
G946S |
probably damaging |
Het |
| Erg |
C |
A |
16: 95,169,510 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
G |
A |
15: 58,078,037 (GRCm39) |
|
probably benign |
Het |
| Gask1b |
G |
T |
3: 79,793,448 (GRCm39) |
|
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,293,076 (GRCm39) |
D66E |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,750,652 (GRCm39) |
N605I |
probably damaging |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,668 (GRCm39) |
E183G |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,305,180 (GRCm39) |
M861V |
probably benign |
Het |
| Igkv12-41 |
A |
T |
6: 69,835,513 (GRCm39) |
S80T |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,523,742 (GRCm39) |
S1057P |
probably damaging |
Het |
| Krt36 |
T |
G |
11: 99,994,216 (GRCm39) |
Q287P |
probably damaging |
Het |
| Ldhd |
A |
G |
8: 112,356,906 (GRCm39) |
S13P |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,443,721 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,343,612 (GRCm39) |
F916I |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,686,259 (GRCm39) |
I92F |
probably damaging |
Het |
| Naa25 |
A |
T |
5: 121,576,867 (GRCm39) |
K872M |
probably damaging |
Het |
| Nek3 |
C |
A |
8: 22,619,463 (GRCm39) |
G443V |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,810 (GRCm39) |
E77G |
probably benign |
Het |
| Nup210 |
G |
A |
6: 91,064,895 (GRCm39) |
Q202* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,998 (GRCm39) |
M171L |
probably benign |
Het |
| Or8k27 |
G |
T |
2: 86,276,251 (GRCm39) |
S25Y |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,109,056 (GRCm39) |
S201P |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,457 (GRCm39) |
Y751N |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,620 (GRCm39) |
L792* |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,792,467 (GRCm39) |
F1385L |
probably benign |
Het |
| Plxnb2 |
A |
C |
15: 89,048,523 (GRCm39) |
C629G |
probably benign |
Het |
| Prpsap2 |
A |
T |
11: 61,621,097 (GRCm39) |
I328N |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,509,940 (GRCm39) |
L2317P |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,952,762 (GRCm39) |
D824G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,361,301 (GRCm39) |
S204N |
probably damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rap1a |
A |
G |
3: 105,639,384 (GRCm39) |
F92L |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,247 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
A |
G |
2: 128,438,050 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
A |
G |
5: 26,155,843 (GRCm39) |
I167T |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,963,924 (GRCm39) |
F97L |
probably benign |
Het |
| Tbc1d9b |
G |
A |
11: 50,059,573 (GRCm39) |
A992T |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,757,305 (GRCm39) |
T296M |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,259,365 (GRCm39) |
T1018M |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,475,441 (GRCm39) |
I285L |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,189,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,432 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vwf |
G |
T |
6: 125,619,113 (GRCm39) |
E1264* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,823 (GRCm39) |
N195K |
probably benign |
Het |
| Zfp385b |
T |
A |
2: 77,246,138 (GRCm39) |
L208F |
probably damaging |
Het |
| Zfp839 |
T |
A |
12: 110,833,195 (GRCm39) |
Y515* |
probably null |
Het |
|
| Other mutations in Adgrl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Adgrl4
|
APN |
3 |
151,248,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00694:Adgrl4
|
APN |
3 |
151,145,033 (GRCm39) |
splice site |
probably benign |
|
|
IGL01143:Adgrl4
|
APN |
3 |
151,205,866 (GRCm39) |
splice site |
probably null |
|
|
IGL01359:Adgrl4
|
APN |
3 |
151,248,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Adgrl4
|
APN |
3 |
151,216,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02149:Adgrl4
|
APN |
3 |
151,205,991 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02324:Adgrl4
|
APN |
3 |
151,203,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02562:Adgrl4
|
APN |
3 |
151,144,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Adgrl4
|
APN |
3 |
151,198,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
trivial
|
UTSW |
3 |
151,223,247 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0077:Adgrl4
|
UTSW |
3 |
151,223,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Adgrl4
|
UTSW |
3 |
151,223,247 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0331:Adgrl4
|
UTSW |
3 |
151,203,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0601:Adgrl4
|
UTSW |
3 |
151,204,066 (GRCm39) |
splice site |
probably benign |
|
|
R0613:Adgrl4
|
UTSW |
3 |
151,248,859 (GRCm39) |
splice site |
probably benign |
|
|
R1293:Adgrl4
|
UTSW |
3 |
151,213,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1463:Adgrl4
|
UTSW |
3 |
151,216,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1697:Adgrl4
|
UTSW |
3 |
151,223,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Adgrl4
|
UTSW |
3 |
151,246,623 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1765:Adgrl4
|
UTSW |
3 |
151,248,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Adgrl4
|
UTSW |
3 |
151,248,442 (GRCm39) |
nonsense |
probably null |
|
|
R1888:Adgrl4
|
UTSW |
3 |
151,144,914 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1888:Adgrl4
|
UTSW |
3 |
151,144,914 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1957:Adgrl4
|
UTSW |
3 |
151,216,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2128:Adgrl4
|
UTSW |
3 |
151,205,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2180:Adgrl4
|
UTSW |
3 |
151,205,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2238:Adgrl4
|
UTSW |
3 |
151,205,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2474:Adgrl4
|
UTSW |
3 |
151,248,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2697:Adgrl4
|
UTSW |
3 |
151,216,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3835:Adgrl4
|
UTSW |
3 |
151,216,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Adgrl4
|
UTSW |
3 |
151,216,422 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4640:Adgrl4
|
UTSW |
3 |
151,205,947 (GRCm39) |
unclassified |
probably benign |
|
|
R4747:Adgrl4
|
UTSW |
3 |
151,213,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5428:Adgrl4
|
UTSW |
3 |
151,248,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Adgrl4
|
UTSW |
3 |
151,203,467 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5717:Adgrl4
|
UTSW |
3 |
151,197,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6106:Adgrl4
|
UTSW |
3 |
151,246,622 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6343:Adgrl4
|
UTSW |
3 |
151,223,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Adgrl4
|
UTSW |
3 |
151,144,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Adgrl4
|
UTSW |
3 |
151,198,012 (GRCm39) |
missense |
probably benign |
|
|
R6636:Adgrl4
|
UTSW |
3 |
151,223,410 (GRCm39) |
nonsense |
probably null |
|
|
R6637:Adgrl4
|
UTSW |
3 |
151,223,410 (GRCm39) |
nonsense |
probably null |
|
|
R6687:Adgrl4
|
UTSW |
3 |
151,248,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6887:Adgrl4
|
UTSW |
3 |
151,248,370 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7041:Adgrl4
|
UTSW |
3 |
151,144,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7527:Adgrl4
|
UTSW |
3 |
151,144,887 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7597:Adgrl4
|
UTSW |
3 |
151,248,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Adgrl4
|
UTSW |
3 |
151,197,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8556:Adgrl4
|
UTSW |
3 |
151,216,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8696:Adgrl4
|
UTSW |
3 |
151,248,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Adgrl4
|
UTSW |
3 |
151,203,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Adgrl4
|
UTSW |
3 |
151,216,416 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9226:Adgrl4
|
UTSW |
3 |
151,198,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9655:Adgrl4
|
UTSW |
3 |
151,248,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9755:Adgrl4
|
UTSW |
3 |
151,216,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9767:Adgrl4
|
UTSW |
3 |
151,207,394 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9784:Adgrl4
|
UTSW |
3 |
151,214,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0053:Adgrl4
|
UTSW |
3 |
151,203,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Adgrl4
|
UTSW |
3 |
151,205,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTATGTCTGTGTTCACATACGT -3'
(R):5'- TCACACTGAACAGAAATGCAGG -3'
Sequencing Primer
(F):5'- ATGCCCAGAGACCTTTGTG -3'
(R):5'- GCAGGAAACAATTTAAATGTCACCTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation