Incidental Mutation 'R6419:Adgrl4'
| ID |
517991 |
| 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 |
044561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151144953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 34
(E34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
[ENSMUST00000196970]
|
| AlphaFold |
Q923X1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046977
AA Change: E34G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041939
Gene: ENSMUSG00000039167
AA Change: E34G
| 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 |
noncoding transcript
Transcript: ENSMUST00000141038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155652
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196970
AA Change: E34G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143744
Gene: ENSMUSG00000039167
AA Change: E34G
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
96% (67/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
C |
4: 42,812,473 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,825,947 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,215,759 (GRCm39) |
T260M |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,231,556 (GRCm39) |
V878I |
possibly damaging |
Het |
| Asah1 |
A |
T |
8: 41,796,803 (GRCm39) |
I293N |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,619 (GRCm39) |
S413N |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,839 (GRCm39) |
E325V |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,348 (GRCm39) |
H1310Q |
probably benign |
Het |
| Ccdc125 |
T |
A |
13: 100,826,834 (GRCm39) |
N204K |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,002,150 (GRCm39) |
D284N |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,520,483 (GRCm39) |
L316S |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,008 (GRCm39) |
K247R |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,574,801 (GRCm39) |
H257R |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,891 (GRCm39) |
Y197N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,962,178 (GRCm39) |
C554* |
probably null |
Het |
| Col4a4 |
A |
G |
1: 82,444,207 (GRCm39) |
|
probably null |
Het |
| Cops5 |
G |
A |
1: 10,103,532 (GRCm39) |
T158I |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,282 (GRCm39) |
F242S |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,627,315 (GRCm39) |
V1512A |
possibly damaging |
Het |
| Dstn |
T |
G |
2: 143,781,907 (GRCm39) |
I116S |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,398 (GRCm39) |
D326N |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,684,089 (GRCm39) |
Y52N |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,426 (GRCm39) |
S359P |
probably benign |
Het |
| Gbp7 |
G |
A |
3: 142,252,214 (GRCm39) |
G599E |
probably benign |
Het |
| Gcat |
T |
G |
15: 78,920,264 (GRCm39) |
I198S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,466,755 (GRCm39) |
K82R |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,717,965 (GRCm39) |
F709S |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,620,201 (GRCm39) |
N348D |
probably damaging |
Het |
| Hdgfl1 |
G |
A |
13: 26,954,075 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
G |
T |
18: 61,285,296 (GRCm39) |
D564E |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,287,300 (GRCm39) |
V305A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,334,414 (GRCm39) |
S313T |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,484 (GRCm39) |
I395K |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,708,459 (GRCm39) |
Y196* |
probably null |
Het |
| Lad1 |
T |
C |
1: 135,759,630 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,860,090 (GRCm39) |
F504L |
possibly damaging |
Het |
| Med4 |
A |
T |
14: 73,751,363 (GRCm39) |
D104V |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,301,073 (GRCm39) |
N128Y |
probably damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,068,668 (GRCm39) |
T54A |
probably benign |
Het |
| Notch2 |
G |
T |
3: 98,007,705 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
T |
3: 109,690,169 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,009,113 (GRCm39) |
W301* |
probably null |
Het |
| Or5b116 |
T |
A |
19: 13,423,131 (GRCm39) |
S252T |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,822,766 (GRCm39) |
S113P |
possibly damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,608 (GRCm39) |
N378S |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,473,975 (GRCm39) |
S185P |
possibly damaging |
Het |
| Ptprn |
G |
A |
1: 75,240,681 (GRCm39) |
R31C |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,698,117 (GRCm39) |
V478M |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,784 (GRCm39) |
L19* |
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,894,881 (GRCm39) |
|
probably null |
Het |
| Spen |
A |
T |
4: 141,203,621 (GRCm39) |
S1669T |
unknown |
Het |
| Syne2 |
T |
C |
12: 76,143,740 (GRCm39) |
F1522L |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,185,783 (GRCm39) |
A470T |
possibly damaging |
Het |
| Tent4a |
A |
C |
13: 69,658,785 (GRCm39) |
M350R |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,694,912 (GRCm39) |
E182* |
probably null |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
C |
T |
1: 84,771,591 (GRCm39) |
A186T |
probably damaging |
Het |
| Ufc1 |
C |
T |
1: 171,116,529 (GRCm39) |
A147T |
probably damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,777 (GRCm39) |
K314R |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,323,085 (GRCm39) |
I68K |
possibly damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,767 (GRCm39) |
I698F |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,795 (GRCm39) |
K607R |
probably damaging |
Het |
| Vwa3b |
T |
C |
1: 37,196,457 (GRCm39) |
V28A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,373,236 (GRCm39) |
N166S |
possibly damaging |
Het |
| Wfdc17 |
G |
A |
11: 83,595,634 (GRCm39) |
G33R |
probably damaging |
Het |
| Zfp330 |
T |
G |
8: 83,491,545 (GRCm39) |
K209N |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,934,526 (GRCm39) |
T160A |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,610,940 (GRCm39) |
C262S |
possibly damaging |
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 |
|
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 |
|
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'- TCCGTAATCTGTAGGCTTGGTC -3'
(R):5'- GCTGAACCTATGAGTGAAGGTG -3'
Sequencing Primer
(F):5'- TTAGCTAGGAGAGTCATTTGAGGGAC -3'
(R):5'- TGAAGCAAGTTCATTTATGGAGAGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation