Incidental Mutation 'R7527:Adgrl4'
| ID |
583046 |
| 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 |
045599-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 151144887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 12
(T12N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
[ENSMUST00000196970]
|
| AlphaFold |
Q923X1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046977
AA Change: T12N
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041939
Gene: ENSMUSG00000039167
AA Change: T12N
| 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 damaging
Transcript: ENSMUST00000196970
AA Change: T12N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143744
Gene: ENSMUSG00000039167
AA Change: T12N
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,218,556 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
A |
G |
17: 46,623,830 (GRCm39) |
S810P |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,239 (GRCm39) |
H138R |
possibly damaging |
Het |
| Adcyap1 |
T |
A |
17: 93,510,257 (GRCm39) |
L95* |
probably null |
Het |
| Alpi |
T |
C |
1: 87,026,677 (GRCm39) |
N438S |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,687,483 (GRCm39) |
N979D |
probably benign |
Het |
| Ankrd60 |
A |
C |
2: 173,419,966 (GRCm39) |
S57A |
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,522,377 (GRCm39) |
P550S |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,422,202 (GRCm39) |
D390V |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,248,208 (GRCm39) |
V374A |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,014,172 (GRCm39) |
F201I |
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,588,865 (GRCm39) |
D313V |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,890 (GRCm39) |
L231P |
possibly damaging |
Het |
| Chl1 |
T |
G |
6: 103,688,162 (GRCm39) |
C1001G |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,770 (GRCm39) |
H360R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,732 (GRCm39) |
A922T |
probably damaging |
Het |
| Fancg |
C |
T |
4: 43,010,116 (GRCm39) |
|
probably benign |
Het |
| Glt8d2 |
A |
T |
10: 82,488,403 (GRCm39) |
S356T |
unknown |
Het |
| Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,711,310 (GRCm39) |
C376Y |
possibly damaging |
Het |
| Gnai3 |
G |
A |
3: 108,025,693 (GRCm39) |
R129C |
|
Het |
| Golph3 |
T |
G |
15: 12,343,404 (GRCm39) |
|
probably null |
Het |
| H2bc18 |
T |
A |
3: 96,177,186 (GRCm39) |
V40D |
possibly damaging |
Het |
| Hk1 |
C |
A |
10: 62,140,561 (GRCm39) |
V105F |
probably damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,001 (GRCm39) |
Y37C |
probably damaging |
Het |
| Inava |
T |
A |
1: 136,142,122 (GRCm39) |
D659V |
possibly damaging |
Het |
| Jun |
G |
T |
4: 94,939,234 (GRCm39) |
P92Q |
probably damaging |
Het |
| Klhl14 |
C |
T |
18: 21,784,597 (GRCm39) |
V277I |
probably damaging |
Het |
| Lrrc51 |
C |
T |
7: 101,569,843 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
T |
A |
9: 57,045,100 (GRCm39) |
Y429* |
probably null |
Het |
| Myo18a |
T |
A |
11: 77,734,406 (GRCm39) |
C1476S |
probably benign |
Het |
| Neb |
G |
C |
2: 52,066,635 (GRCm39) |
T6155R |
probably damaging |
Het |
| Niban3 |
C |
G |
8: 72,059,342 (GRCm39) |
C568W |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,326,422 (GRCm39) |
E443G |
possibly damaging |
Het |
| Or10j5 |
C |
T |
1: 172,784,511 (GRCm39) |
H50Y |
probably benign |
Het |
| Or4c15 |
A |
G |
2: 88,760,434 (GRCm39) |
V75A |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,954 (GRCm39) |
C109S |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,408,685 (GRCm39) |
I214V |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,856,603 (GRCm39) |
S515P |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,367,177 (GRCm39) |
L84P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,736,273 (GRCm39) |
I538T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,929,929 (GRCm39) |
V262L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,057,804 (GRCm39) |
S1320P |
unknown |
Het |
| Pramel47 |
A |
G |
5: 95,490,409 (GRCm39) |
D347G |
probably benign |
Het |
| Prap1 |
G |
A |
7: 139,676,120 (GRCm39) |
|
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,699 (GRCm39) |
V36D |
probably damaging |
Het |
| Ptgr1 |
A |
G |
4: 58,982,887 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,104 (GRCm39) |
T528A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,525,787 (GRCm39) |
S541P |
unknown |
Het |
| Rnf17 |
A |
T |
14: 56,753,895 (GRCm39) |
D1534V |
probably damaging |
Het |
| Sdk1 |
T |
G |
5: 141,778,731 (GRCm39) |
S236R |
possibly damaging |
Het |
| Sepsecs |
A |
G |
5: 52,801,393 (GRCm39) |
M423T |
possibly damaging |
Het |
| Serpina1f |
T |
G |
12: 103,658,167 (GRCm39) |
Y246S |
probably benign |
Het |
| Sftpb |
T |
A |
6: 72,282,048 (GRCm39) |
V46E |
possibly damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,475 (GRCm39) |
V424I |
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,946,742 (GRCm39) |
T10M |
probably benign |
Het |
| Slc6a16 |
T |
C |
7: 44,922,063 (GRCm39) |
W664R |
probably damaging |
Het |
| Snx8 |
T |
C |
5: 140,341,827 (GRCm39) |
E138G |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,376,408 (GRCm39) |
E108G |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,870,209 (GRCm39) |
I120F |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,075,015 (GRCm39) |
E1452G |
possibly damaging |
Het |
| Stac2 |
T |
A |
11: 97,930,452 (GRCm39) |
E372V |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,962,795 (GRCm39) |
I161F |
probably damaging |
Het |
| Taf1d |
C |
A |
9: 15,220,133 (GRCm39) |
D127E |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 36,097,803 (GRCm39) |
N482Y |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,635 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Tmem200c |
A |
T |
17: 69,148,671 (GRCm39) |
H418L |
probably benign |
Het |
| Tmem81 |
T |
C |
1: 132,435,884 (GRCm39) |
V230A |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,074 (GRCm39) |
V915I |
possibly damaging |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,154 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,801,894 (GRCm39) |
N57S |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,598,383 (GRCm39) |
T19510M |
probably damaging |
Het |
| Ubl7 |
T |
C |
9: 57,820,167 (GRCm39) |
L73P |
unknown |
Het |
| Uso1 |
A |
G |
5: 92,347,734 (GRCm39) |
D845G |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,277,126 (GRCm39) |
P3397Q |
possibly damaging |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
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 |
|
R6856:Adgrl4
|
UTSW |
3 |
151,205,755 (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 |
|
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'- CATGCTATATTCCGTAATCTGTAGGC -3'
(R):5'- AGTCACCGCAGAACTGAGTC -3'
Sequencing Primer
(F):5'- ATATTCCGTAATCTGTAGGCTTGGTC -3'
(R):5'- CTGAGTCTCACAAGCAGATCAAAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation