Incidental Mutation 'R4254:Adgrg2'
| ID |
321757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg2
|
| Ensembl Gene |
ENSMUSG00000031298 |
| Gene Name |
adhesion G protein-coupled receptor G2 |
| Synonyms |
B830041D06Rik, Gpr64, Me6 |
| MMRRC Submission |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
159173686-159281066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 159265404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 551
(S551R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112398]
[ENSMUST00000112400]
[ENSMUST00000112401]
[ENSMUST00000112402]
[ENSMUST00000112404]
[ENSMUST00000112405]
[ENSMUST00000112408]
|
| AlphaFold |
Q8CJ12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112398
AA Change: S551R
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108017
Gene: ENSMUSG00000031298
AA Change: S551R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
439 |
N/A |
INTRINSIC |
|
GPS
|
555 |
607 |
1.56e-18 |
SMART |
|
Pfam:7tm_2
|
614 |
864 |
6.6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112400
AA Change: S554R
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108019
Gene: ENSMUSG00000031298
AA Change: S554R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
442 |
N/A |
INTRINSIC |
|
GPS
|
558 |
610 |
1.56e-18 |
SMART |
|
Pfam:7tm_2
|
617 |
867 |
5.8e-63 |
PFAM |
|
low complexity region
|
910 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112401
AA Change: S537R
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108020
Gene: ENSMUSG00000031298
AA Change: S537R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
425 |
N/A |
INTRINSIC |
|
GPS
|
541 |
593 |
1.56e-18 |
SMART |
|
Pfam:7tm_2
|
600 |
850 |
1.8e-63 |
PFAM |
|
low complexity region
|
893 |
922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112402
AA Change: S540R
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108021
Gene: ENSMUSG00000031298
AA Change: S540R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
|
GPS
|
544 |
596 |
1.56e-18 |
SMART |
|
Pfam:7tm_2
|
603 |
853 |
9.9e-64 |
PFAM |
|
low complexity region
|
896 |
925 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112404
AA Change: S527R
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108023
Gene: ENSMUSG00000031298
AA Change: S527R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
182 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
415 |
N/A |
INTRINSIC |
|
GPS
|
531 |
583 |
1.56e-18 |
SMART |
|
Pfam:7tm_2
|
590 |
840 |
9.7e-64 |
PFAM |
|
low complexity region
|
883 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112405
AA Change: S538R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108024
Gene: ENSMUSG00000031298
AA Change: S538R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
426 |
N/A |
INTRINSIC |
|
GPS
|
542 |
594 |
1.56e-18 |
SMART |
|
Pfam:7tm_2
|
601 |
851 |
9.9e-64 |
PFAM |
|
low complexity region
|
894 |
923 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112408
AA Change: S551R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108027
Gene: ENSMUSG00000031298
AA Change: S551R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
439 |
N/A |
INTRINSIC |
|
GPS
|
555 |
607 |
1.56e-18 |
SMART |
|
Pfam:7tm_2
|
614 |
864 |
1e-63 |
PFAM |
|
low complexity region
|
907 |
936 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| 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 described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Hemizygous null male mice display reduced fertility, oligozoospermia, teratozoospermia, asthenozoospermia, abnormal epididymis morphology, and abnormal fluid accumulation resulting in enlarged testes and dilated seminiferous tubules. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
| Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
probably benign |
Het |
|
| Other mutations in Adgrg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Adgrg2
|
APN |
X |
159,268,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00742:Adgrg2
|
APN |
X |
159,271,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01125:Adgrg2
|
APN |
X |
159,275,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02427:Adgrg2
|
APN |
X |
159,274,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03177:Adgrg2
|
APN |
X |
159,221,259 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1864:Adgrg2
|
UTSW |
X |
159,265,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1865:Adgrg2
|
UTSW |
X |
159,265,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3875:Adgrg2
|
UTSW |
X |
159,261,992 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTGAGTCATAAATTAGCCCTTACC -3'
(R):5'- CACAGCTCTTCCCACAGTGAAG -3'
Sequencing Primer
(F):5'- AATTAGCCCTTACCATATGTCATTTC -3'
(R):5'- CACAGTGAAGCCCAGCAGTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation