Mutagenetix > Incidental Mutation

Incidental Mutation 'R1293:Adgrl4'

150695

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

039359-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151143519-151250718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 151213081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 374 (E374K)

Ref Sequence

ENSEMBL: ENSMUSP00000041939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046977]

AlphaFold

Q923X1

Predicted Effect

probably benign
Transcript: ENSMUST00000046977
AA Change: E374K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041939
Gene: ENSMUSG00000039167
AA Change: E374K

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: ENSMUST00000129283

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,393,141 (GRCm39)	R289Q	probably benign	Het
Ate1	G	A	7: 129,996,455 (GRCm39)	R505C	probably benign	Het
Cntn4	T	C	6: 106,330,685 (GRCm39)	I101T	probably benign	Het
Dmtf1	T	A	5: 9,190,383 (GRCm39)		probably null	Het
Dnah17	C	A	11: 118,017,963 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,048,996 (GRCm39)	T470A	probably damaging	Het
Fam118b	A	T	9: 35,132,721 (GRCm39)	Y313N	probably damaging	Het
Gm10142	T	C	10: 77,551,869 (GRCm39)	S77P	probably benign	Het
Kat8	T	C	7: 127,521,422 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,353,646 (GRCm39)		probably null	Het
Lrrc10	A	G	10: 116,881,838 (GRCm39)	T171A	probably benign	Het
Mcidas	A	G	13: 113,133,926 (GRCm39)	T137A	probably benign	Het
Med1	G	A	11: 98,047,862 (GRCm39)	T978I	possibly damaging	Het
Muc6	C	A	7: 141,238,255 (GRCm39)	C75F	probably damaging	Het
Olfm3	A	G	3: 114,895,579 (GRCm39)	I154V	possibly damaging	Het
Or2ag15	A	G	7: 106,341,058 (GRCm39)	C28R	probably damaging	Het
Or2y12	G	A	11: 49,426,393 (GRCm39)	C127Y	probably damaging	Het
Or5ak22	T	A	2: 85,230,697 (GRCm39)		probably null	Het
Or7g30	A	T	9: 19,352,728 (GRCm39)	E173V	probably benign	Het
Rsrc1	G	A	3: 67,263,612 (GRCm39)	R324Q	probably damaging	Het
Samd9l	G	T	6: 3,373,947 (GRCm39)	P1105T	possibly damaging	Het
Sgcb	C	A	5: 73,792,870 (GRCm39)	V311F	probably benign	Het
Siglec1	A	G	2: 130,915,451 (GRCm39)	V1380A	probably benign	Het
Spred1	C	T	2: 117,007,889 (GRCm39)	P265L	probably damaging	Het
Unc13b	T	A	4: 43,235,190 (GRCm39)	H3259Q	probably damaging	Het
Unc13c	C	T	9: 73,481,356 (GRCm39)	D1694N	probably benign	Het
Usp24	A	G	4: 106,280,750 (GRCm39)	R2355G	probably benign	Het
Vmn1r53	T	A	6: 90,201,196 (GRCm39)	N43Y	possibly damaging	Het
Wtip	T	C	7: 33,809,646 (GRCm39)	S359G	possibly damaging	Het
Zfp984	T	A	4: 147,840,398 (GRCm39)	K151M	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
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
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'- CTCATTTGCACACGGACACATGAC -3'
(R):5'- TCCCATCGCTCAGAGGAAGAAAGG -3'

Sequencing Primer
(F):5'- TGTATGCTAACGCACACATGG -3'
(R):5'- GGATCGAAACTACACTACCCTTTTAG -3'

Posted On

2014-01-29