Incidental Mutation 'IGL01125:Adgrg2'
| ID |
53349 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adgrg2
|
| Ensembl Gene |
ENSMUSG00000031298 |
| Gene Name |
adhesion G protein-coupled receptor G2 |
| Synonyms |
B830041D06Rik, Gpr64, Me6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
159173686-159281066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 159275704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 931
(T931I)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108017
Gene: ENSMUSG00000031298
| 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 damaging
Transcript: ENSMUST00000112400
AA Change: T934I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108019
Gene: ENSMUSG00000031298
AA Change: T934I
| 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 |
probably damaging
Transcript: ENSMUST00000112401
AA Change: T917I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108020
Gene: ENSMUSG00000031298
AA Change: T917I
| 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 damaging
Transcript: ENSMUST00000112402
AA Change: T920I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108021
Gene: ENSMUSG00000031298
AA Change: T920I
| 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 damaging
Transcript: ENSMUST00000112404
AA Change: T907I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108023
Gene: ENSMUSG00000031298
AA Change: T907I
| 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 |
probably damaging
Transcript: ENSMUST00000112405
AA Change: T918I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108024
Gene: ENSMUSG00000031298
AA Change: T918I
| 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 |
probably damaging
Transcript: ENSMUST00000112408
AA Change: T931I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108027
Gene: ENSMUSG00000031298
AA Change: T931I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125700
|
| 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 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
| Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,945,047 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
| Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,733,306 (GRCm39) |
D258V |
probably benign |
Het |
| Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
| Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,583,202 (GRCm39) |
D194E |
probably damaging |
Het |
| Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
| Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
| Phf20 |
G |
A |
2: 156,145,104 (GRCm39) |
|
probably null |
Het |
| Ppp3cc |
G |
T |
14: 70,455,701 (GRCm39) |
H467Q |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,592,458 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
T |
A |
X: 123,042,504 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
probably damaging |
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 |
|
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 |
|
R4254:Adgrg2
|
UTSW |
X |
159,265,404 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2013-06-21 |
Incidental Mutation