Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00426:Adgrl2'

332386

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adgrl2

Ensembl Gene

ENSMUSG00000028184

Gene Name

adhesion G protein-coupled receptor L2

Synonyms

Lphn2, Lphh1, Lec1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00426

Quality Score

Status

Chromosome

Chromosomal Location

148521219-148696191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148571244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 130 (V130A)

Ref Sequence

ENSEMBL: ENSMUSP00000142405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106128] [ENSMUST00000195988] [ENSMUST00000196526] [ENSMUST00000197567] [ENSMUST00000198779] [ENSMUST00000199059] [ENSMUST00000199238] [ENSMUST00000200543] [ENSMUST00000200154] [ENSMUST00000199750]

AlphaFold

Q8JZZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000106128
AA Change: V130A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	2.5e-26	PFAM
OLF	142	398	5.22e-140	SMART
HormR	469	534	3.14e-20	SMART
Pfam:GAIN	537	764	1.3e-58	PFAM
GPS	788	840	3.47e-25	SMART
Pfam:7tm_2	848	1108	4.6e-69	PFAM
Pfam:Latrophilin	1128	1487	6.4e-181	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195988
AA Change: V130A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	3.3e-23	PFAM
OLF	142	398	3.3e-142	SMART
HormR	469	534	2e-22	SMART
GPS	788	840	2.1e-27	SMART
Pfam:7tm_2	848	1099	8.1e-66	PFAM
Pfam:Latrophilin	1119	1189	2.2e-28	PFAM
Pfam:Latrophilin	1184	1435	5.5e-123	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196526
AA Change: V130A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143788
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	8.7e-24	PFAM
OLF	138	394	3.4e-142	SMART
HormR	465	530	2e-22	SMART
Pfam:GAIN	533	747	1.1e-54	PFAM
GPS	771	823	2.2e-27	SMART
Pfam:7tm_2	831	1067	6.5e-68	PFAM
Pfam:Latrophilin	1087	1158	9.9e-36	PFAM
low complexity region	1163	1173	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197567
AA Change: V130A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	1.9e-26	PFAM
OLF	142	398	5.22e-140	SMART
HormR	469	534	3.14e-20	SMART
Pfam:GAIN	537	764	1.1e-58	PFAM
GPS	788	840	3.47e-25	SMART
Pfam:7tm_2	848	1108	6.4e-69	PFAM
Pfam:Latrophilin	1128	1487	2.8e-181	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198779
AA Change: V130A

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	3.4e-23	PFAM
OLF	142	398	3.3e-142	SMART
HormR	469	534	2e-22	SMART
GPS	788	840	2.1e-27	SMART
Pfam:7tm_2	848	1084	1.8e-66	PFAM
Pfam:Latrophilin	1104	1452	7e-174	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199059
AA Change: V130A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	3.4e-23	PFAM
OLF	142	398	3.3e-142	SMART
HormR	469	534	2e-22	SMART
GPS	788	840	2.1e-27	SMART
Pfam:7tm_2	848	1099	8.3e-66	PFAM
Pfam:Latrophilin	1119	1467	7.1e-174	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199238
AA Change: V130A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	3.4e-23	PFAM
OLF	142	398	3.3e-142	SMART
HormR	469	534	2e-22	SMART
GPS	788	840	2.1e-27	SMART
Pfam:7tm_2	848	1099	8.4e-66	PFAM
Pfam:Latrophilin	1119	1478	1.6e-187	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200543
AA Change: V130A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	3.2e-23	PFAM
OLF	138	394	3.3e-142	SMART
HormR	465	530	2e-22	SMART
GPS	771	823	2.1e-27	SMART
Pfam:7tm_2	831	1067	1.7e-66	PFAM
Pfam:Latrophilin	1087	1157	2.1e-28	PFAM
Pfam:Latrophilin	1152	1403	5.3e-123	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200154
AA Change: V130A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142865
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	2.5e-23	PFAM
OLF	138	394	3.3e-142	SMART
HormR	465	530	2e-22	SMART
GPS	771	823	2.1e-27	SMART
Pfam:7tm_2	831	1067	1.2e-66	PFAM
Pfam:Latrophilin	1087	1123	2.2e-4	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199750
AA Change: V130A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
AA Change: V130A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Gal_Lectin	49	129	3.1e-23	PFAM
OLF	142	398	3.3e-142	SMART
HormR	403	468	1.9e-22	SMART
GPS	709	761	2.1e-27	SMART
Pfam:7tm_2	769	1005	1.6e-66	PFAM
Pfam:Latrophilin	1025	1095	2e-28	PFAM
Pfam:Latrophilin	1090	1341	4.9e-123	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice die prenatally at fetal stages. Heterozygous mice exhibit decreased locomotor activity in an open field test. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,278 (GRCm39)	E313K	probably damaging	Het
Aadacl2fm2	T	A	3: 59,659,542 (GRCm39)	L332I	possibly damaging	Het
Arhgef28	G	A	13: 98,124,785 (GRCm39)	A499V	probably benign	Het
Ceacam18	C	T	7: 43,288,780 (GRCm39)	T177I	probably benign	Het
Cspp1	G	A	1: 10,182,776 (GRCm39)		probably benign	Het
Cyp2j7	A	T	4: 96,115,749 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,115,750 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,656,551 (GRCm39)	F821L	probably damaging	Het
Lrig3	A	T	10: 125,808,006 (GRCm39)	R85*	probably null	Het
Mcf2l	A	G	8: 13,034,910 (GRCm39)	D106G	probably damaging	Het
Mdn1	T	C	4: 32,719,214 (GRCm39)	V2259A	possibly damaging	Het
Mmp16	C	T	4: 18,011,784 (GRCm39)	P233L	probably benign	Het
Mrpl27	A	G	11: 94,550,523 (GRCm39)	N110S	probably benign	Het
Myom2	T	C	8: 15,119,502 (GRCm39)	M131T	probably benign	Het
Myzap	T	C	9: 71,462,953 (GRCm39)	T198A	probably benign	Het
Nek8	T	C	11: 78,058,653 (GRCm39)	Q549R	probably damaging	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nup155	T	C	15: 8,186,278 (GRCm39)	*1347Q	probably null	Het
Pkd2l1	C	T	19: 44,144,044 (GRCm39)	R343H	probably benign	Het
Ppfibp2	T	A	7: 107,308,012 (GRCm39)	L215H	probably damaging	Het
Ralgds	T	C	2: 28,442,230 (GRCm39)	L137P	probably damaging	Het
Rasa2	C	T	9: 96,426,913 (GRCm39)	D752N	probably damaging	Het
Spg11	T	C	2: 121,896,041 (GRCm39)	K1726E	probably damaging	Het
St6gal1	G	A	16: 23,175,142 (GRCm39)		probably benign	Het
Tmem183a	A	G	1: 134,277,882 (GRCm39)	L294P	probably damaging	Het
Trav19	T	C	14: 54,083,141 (GRCm39)	L72P	probably damaging	Het
Vapa	T	C	17: 65,900,476 (GRCm39)	T99A	possibly damaging	Het

Other mutations in Adgrl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Adgrl2	APN	3	148,532,134 (GRCm39)	missense	probably damaging	1.00
IGL01624:Adgrl2	APN	3	148,542,163 (GRCm39)	missense	probably damaging	1.00
IGL01796:Adgrl2	APN	3	148,564,611 (GRCm39)	missense	probably damaging	1.00
IGL02380:Adgrl2	APN	3	148,534,125 (GRCm39)	nonsense	probably null
IGL02468:Adgrl2	APN	3	148,596,116 (GRCm39)	missense	probably damaging	1.00
IGL02708:Adgrl2	APN	3	148,532,161 (GRCm39)	missense	probably damaging	0.96
IGL02869:Adgrl2	APN	3	148,596,241 (GRCm39)	missense	probably damaging	1.00
IGL03248:Adgrl2	APN	3	148,523,036 (GRCm39)	missense	probably damaging	1.00
IGL03343:Adgrl2	APN	3	148,565,016 (GRCm39)	missense	probably damaging	0.98
P0157:Adgrl2	UTSW	3	148,564,699 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Adgrl2	UTSW	3	148,522,934 (GRCm39)	missense
PIT4544001:Adgrl2	UTSW	3	148,596,157 (GRCm39)	missense	probably damaging	1.00
R0165:Adgrl2	UTSW	3	148,558,499 (GRCm39)	splice site	probably benign
R0242:Adgrl2	UTSW	3	148,544,821 (GRCm39)	splice site	probably null
R0242:Adgrl2	UTSW	3	148,544,821 (GRCm39)	splice site	probably null
R0344:Adgrl2	UTSW	3	148,571,231 (GRCm39)	splice site	probably null
R0488:Adgrl2	UTSW	3	148,552,541 (GRCm39)	missense	probably damaging	1.00
R0542:Adgrl2	UTSW	3	148,564,854 (GRCm39)	missense	probably damaging	1.00
R0630:Adgrl2	UTSW	3	148,544,880 (GRCm39)	missense	probably damaging	0.98
R0674:Adgrl2	UTSW	3	148,543,315 (GRCm39)	missense	possibly damaging	0.91
R1401:Adgrl2	UTSW	3	148,528,617 (GRCm39)	missense	probably damaging	0.99
R1543:Adgrl2	UTSW	3	148,564,909 (GRCm39)	missense	probably damaging	1.00
R1575:Adgrl2	UTSW	3	148,558,398 (GRCm39)	missense	probably benign	0.17
R1645:Adgrl2	UTSW	3	148,571,244 (GRCm39)	missense	probably damaging	1.00
R1780:Adgrl2	UTSW	3	148,558,229 (GRCm39)	missense	probably damaging	1.00
R1992:Adgrl2	UTSW	3	148,522,880 (GRCm39)	missense	possibly damaging	0.89
R2014:Adgrl2	UTSW	3	148,532,111 (GRCm39)	missense	probably damaging	1.00
R2130:Adgrl2	UTSW	3	148,596,124 (GRCm39)	missense	probably damaging	0.99
R2131:Adgrl2	UTSW	3	148,596,124 (GRCm39)	missense	probably damaging	0.99
R2400:Adgrl2	UTSW	3	148,557,570 (GRCm39)	missense	probably damaging	1.00
R2997:Adgrl2	UTSW	3	148,523,285 (GRCm39)	missense	probably damaging	1.00
R3161:Adgrl2	UTSW	3	148,523,187 (GRCm39)	missense	probably damaging	1.00
R3416:Adgrl2	UTSW	3	148,564,965 (GRCm39)	missense	probably damaging	1.00
R3417:Adgrl2	UTSW	3	148,564,965 (GRCm39)	missense	probably damaging	1.00
R3551:Adgrl2	UTSW	3	148,564,599 (GRCm39)	missense	probably damaging	1.00
R3760:Adgrl2	UTSW	3	148,522,871 (GRCm39)	missense	probably damaging	1.00
R4355:Adgrl2	UTSW	3	148,544,788 (GRCm39)	missense	probably damaging	1.00
R4850:Adgrl2	UTSW	3	148,564,656 (GRCm39)	missense	probably damaging	1.00
R4911:Adgrl2	UTSW	3	148,596,099 (GRCm39)	missense	probably damaging	0.99
R4945:Adgrl2	UTSW	3	148,528,672 (GRCm39)	missense	probably damaging	0.99
R5313:Adgrl2	UTSW	3	148,529,349 (GRCm39)	missense	probably damaging	1.00
R5339:Adgrl2	UTSW	3	148,523,480 (GRCm39)	missense	probably benign	0.01
R5540:Adgrl2	UTSW	3	148,543,198 (GRCm39)	critical splice donor site	probably null
R5583:Adgrl2	UTSW	3	148,564,800 (GRCm39)	missense	probably damaging	1.00
R5890:Adgrl2	UTSW	3	148,564,811 (GRCm39)	missense	probably damaging	1.00
R6170:Adgrl2	UTSW	3	148,528,645 (GRCm39)	missense	probably damaging	1.00
R6197:Adgrl2	UTSW	3	148,564,578 (GRCm39)	missense	probably damaging	1.00
R6284:Adgrl2	UTSW	3	148,532,143 (GRCm39)	missense	probably damaging	1.00
R6877:Adgrl2	UTSW	3	148,522,922 (GRCm39)	missense	probably damaging	1.00
R7048:Adgrl2	UTSW	3	148,552,565 (GRCm39)	missense	probably damaging	1.00
R7205:Adgrl2	UTSW	3	148,564,585 (GRCm39)	missense	probably damaging	1.00
R7326:Adgrl2	UTSW	3	148,552,506 (GRCm39)	missense	probably benign	0.00
R7348:Adgrl2	UTSW	3	148,523,402 (GRCm39)	missense
R7382:Adgrl2	UTSW	3	148,522,919 (GRCm39)	missense
R7486:Adgrl2	UTSW	3	148,523,330 (GRCm39)	missense
R7498:Adgrl2	UTSW	3	148,564,852 (GRCm39)	nonsense	probably null
R7644:Adgrl2	UTSW	3	148,544,789 (GRCm39)	missense	probably damaging	1.00
R7690:Adgrl2	UTSW	3	148,522,934 (GRCm39)	missense
R7742:Adgrl2	UTSW	3	148,542,064 (GRCm39)	missense	probably damaging	1.00
R7745:Adgrl2	UTSW	3	148,542,094 (GRCm39)	missense	probably damaging	1.00
R8291:Adgrl2	UTSW	3	148,556,554 (GRCm39)	missense	possibly damaging	0.93
R8326:Adgrl2	UTSW	3	148,533,190 (GRCm39)	missense
R8343:Adgrl2	UTSW	3	148,552,542 (GRCm39)	missense	probably damaging	1.00
R8344:Adgrl2	UTSW	3	148,565,161 (GRCm39)	missense	probably damaging	0.98
R8487:Adgrl2	UTSW	3	148,565,122 (GRCm39)	missense	probably benign	0.06
R8748:Adgrl2	UTSW	3	148,532,026 (GRCm39)	missense
R8769:Adgrl2	UTSW	3	148,522,917 (GRCm39)	missense
R8804:Adgrl2	UTSW	3	148,552,652 (GRCm39)	missense	probably damaging	1.00
R8911:Adgrl2	UTSW	3	148,558,163 (GRCm39)	intron	probably benign
R8943:Adgrl2	UTSW	3	148,534,119 (GRCm39)	missense	probably damaging	1.00
R8977:Adgrl2	UTSW	3	148,660,223 (GRCm39)	missense	probably null
R9030:Adgrl2	UTSW	3	148,544,761 (GRCm39)	missense	possibly damaging	0.74
R9105:Adgrl2	UTSW	3	148,543,289 (GRCm39)	missense	possibly damaging	0.82
R9427:Adgrl2	UTSW	3	148,526,068 (GRCm39)	missense
R9471:Adgrl2	UTSW	3	148,558,365 (GRCm39)	missense	probably benign
R9646:Adgrl2	UTSW	3	148,544,926 (GRCm39)	missense	probably damaging	0.96
R9742:Adgrl2	UTSW	3	148,541,986 (GRCm39)	critical splice donor site	probably null
RF007:Adgrl2	UTSW	3	148,544,884 (GRCm39)	missense	probably damaging	1.00
X0009:Adgrl2	UTSW	3	148,558,290 (GRCm39)	missense	probably damaging	1.00
X0019:Adgrl2	UTSW	3	148,571,230 (GRCm39)	splice site	probably null

Posted On

2015-08-05