Incidental Mutation 'R6122:Adgrg1'
ID |
485774 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrg1
|
Ensembl Gene |
ENSMUSG00000031785 |
Gene Name |
adhesion G protein-coupled receptor G1 |
Synonyms |
Cyt28, Gpr56 |
MMRRC Submission |
044269-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R6122 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
95701379-95740845 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95729129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 18
(S18P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148374
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093271]
[ENSMUST00000179619]
[ENSMUST00000211944]
[ENSMUST00000211984]
[ENSMUST00000212118]
[ENSMUST00000212141]
[ENSMUST00000212531]
[ENSMUST00000212581]
[ENSMUST00000212660]
[ENSMUST00000212799]
[ENSMUST00000212956]
[ENSMUST00000212976]
[ENSMUST00000212995]
|
AlphaFold |
Q8K209 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093271
AA Change: S18P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000090959 Gene: ENSMUSG00000031785 AA Change: S18P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
GPS
|
342 |
394 |
1.42e-12 |
SMART |
Pfam:7tm_2
|
400 |
648 |
8.1e-32 |
PFAM |
low complexity region
|
678 |
685 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179619
AA Change: S18P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000137520 Gene: ENSMUSG00000031785 AA Change: S18P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
GPS
|
342 |
394 |
1.42e-12 |
SMART |
Pfam:7tm_2
|
400 |
648 |
3.4e-31 |
PFAM |
low complexity region
|
678 |
685 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211850
|
Predicted Effect |
unknown
Transcript: ENSMUST00000211944
AA Change: S18P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211984
AA Change: S18P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212118
AA Change: S18P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212141
AA Change: S18P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212531
AA Change: S18P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212581
AA Change: S18P
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212660
AA Change: S18P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212799
AA Change: S18P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212956
AA Change: S18P
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212976
AA Change: S18P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212995
AA Change: S18P
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (57/58) |
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 G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] PHENOTYPE: Mice homozygous for a null allele exhibit neuronal ectopias in the frontoparietal cortex due to disruptions in the pial basement membrane. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
Arnt2 |
C |
A |
7: 84,010,773 (GRCm39) |
K34N |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 57,979,200 (GRCm39) |
D641G |
probably damaging |
Het |
Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
Neo1 |
A |
T |
9: 58,824,291 (GRCm39) |
D712E |
probably benign |
Het |
Neu1 |
G |
A |
17: 35,153,730 (GRCm39) |
V385I |
probably benign |
Het |
Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
Pira2 |
A |
T |
7: 3,845,445 (GRCm39) |
V313E |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
Septin2 |
A |
G |
1: 93,425,098 (GRCm39) |
T45A |
probably damaging |
Het |
Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
possibly damaging |
Het |
Usf3 |
A |
T |
16: 44,037,670 (GRCm39) |
I717L |
probably damaging |
Het |
|
Other mutations in Adgrg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00983:Adgrg1
|
APN |
8 |
95,731,871 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01138:Adgrg1
|
APN |
8 |
95,730,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01806:Adgrg1
|
APN |
8 |
95,739,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02229:Adgrg1
|
APN |
8 |
95,730,139 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03109:Adgrg1
|
APN |
8 |
95,734,304 (GRCm39) |
unclassified |
probably benign |
|
D4043:Adgrg1
|
UTSW |
8 |
95,731,857 (GRCm39) |
splice site |
probably null |
|
R0383:Adgrg1
|
UTSW |
8 |
95,738,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1155:Adgrg1
|
UTSW |
8 |
95,733,468 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1656:Adgrg1
|
UTSW |
8 |
95,738,438 (GRCm39) |
nonsense |
probably null |
|
R1944:Adgrg1
|
UTSW |
8 |
95,733,928 (GRCm39) |
missense |
probably damaging |
0.99 |
R1952:Adgrg1
|
UTSW |
8 |
95,735,119 (GRCm39) |
critical splice donor site |
probably null |
|
R2408:Adgrg1
|
UTSW |
8 |
95,730,121 (GRCm39) |
missense |
probably null |
1.00 |
R3776:Adgrg1
|
UTSW |
8 |
95,736,283 (GRCm39) |
missense |
probably damaging |
0.99 |
R3813:Adgrg1
|
UTSW |
8 |
95,738,193 (GRCm39) |
missense |
probably benign |
0.34 |
R4254:Adgrg1
|
UTSW |
8 |
95,732,530 (GRCm39) |
splice site |
probably null |
|
R4255:Adgrg1
|
UTSW |
8 |
95,732,530 (GRCm39) |
splice site |
probably null |
|
R4951:Adgrg1
|
UTSW |
8 |
95,731,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Adgrg1
|
UTSW |
8 |
95,736,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R5152:Adgrg1
|
UTSW |
8 |
95,736,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R6897:Adgrg1
|
UTSW |
8 |
95,729,126 (GRCm39) |
missense |
probably benign |
|
R7446:Adgrg1
|
UTSW |
8 |
95,738,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R7736:Adgrg1
|
UTSW |
8 |
95,731,965 (GRCm39) |
missense |
probably benign |
|
R7784:Adgrg1
|
UTSW |
8 |
95,739,510 (GRCm39) |
nonsense |
probably null |
|
R8187:Adgrg1
|
UTSW |
8 |
95,732,446 (GRCm39) |
missense |
probably benign |
0.01 |
R8425:Adgrg1
|
UTSW |
8 |
95,735,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R8474:Adgrg1
|
UTSW |
8 |
95,729,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R8674:Adgrg1
|
UTSW |
8 |
95,727,526 (GRCm39) |
intron |
probably benign |
|
R8683:Adgrg1
|
UTSW |
8 |
95,736,276 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Adgrg1
|
UTSW |
8 |
95,734,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGATGCTCTGGAGAGAAGCC -3'
(R):5'- TGCACCCATCCCAAGTTTCG -3'
Sequencing Primer
(F):5'- GAGAGAAGCCTGACCATTACTTTGTG -3'
(R):5'- ATCCCAAGTTTCGCTCTGTGGAG -3'
|
Posted On |
2017-08-16 |