Incidental Mutation 'IGL00742:Adgrg2'
| ID |
11116 |
| 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 # |
IGL00742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
159173686-159281066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 159271715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 778
(T778M)
|
| 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 damaging
Transcript: ENSMUST00000112398
AA Change: T778M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108017
Gene: ENSMUSG00000031298
AA Change: T778M
| 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: T781M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108019
Gene: ENSMUSG00000031298
AA Change: T781M
| 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: T764M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108020
Gene: ENSMUSG00000031298
AA Change: T764M
| 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: T767M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108021
Gene: ENSMUSG00000031298
AA Change: T767M
| 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: T754M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108023
Gene: ENSMUSG00000031298
AA Change: T754M
| 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: T765M
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108024
Gene: ENSMUSG00000031298
AA Change: T765M
| 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: T778M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108027
Gene: ENSMUSG00000031298
AA Change: T778M
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
G |
T |
15: 76,473,300 (GRCm39) |
A50S |
possibly damaging |
Het |
| Aimp1 |
G |
A |
3: 132,377,742 (GRCm39) |
Q208* |
probably null |
Het |
| Auh |
T |
C |
13: 52,992,138 (GRCm39) |
E210G |
probably damaging |
Het |
| Cdh20 |
T |
G |
1: 109,993,356 (GRCm39) |
N270K |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,128,458 (GRCm39) |
E218G |
probably benign |
Het |
| Cntn5 |
G |
T |
9: 9,976,302 (GRCm39) |
T214K |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,917,964 (GRCm39) |
D766V |
unknown |
Het |
| Ddb1 |
A |
G |
19: 10,588,124 (GRCm39) |
N203S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,353,261 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Hdac6 |
T |
C |
X: 7,797,568 (GRCm39) |
D1019G |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,843 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,839,771 (GRCm39) |
C693S |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,520,151 (GRCm39) |
S181T |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,785 (GRCm39) |
Q291R |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,358,159 (GRCm39) |
R365C |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,918 (GRCm39) |
D66G |
probably damaging |
Het |
| Map9 |
T |
C |
3: 82,270,727 (GRCm39) |
V97A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,328,769 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,935,104 (GRCm39) |
H200L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,438,788 (GRCm39) |
L2031S |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,741,229 (GRCm39) |
R243H |
probably benign |
Het |
| Omg |
T |
A |
11: 79,394,739 (GRCm39) |
|
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,563 (GRCm39) |
Y293F |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,280,315 (GRCm39) |
N413K |
possibly damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,608 (GRCm39) |
T769A |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,648,784 (GRCm39) |
P244S |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,699 (GRCm39) |
E244G |
probably damaging |
Het |
| Satb2 |
A |
T |
1: 56,870,700 (GRCm39) |
N428K |
possibly damaging |
Het |
| Svopl |
A |
G |
6: 38,007,952 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
G |
T |
3: 122,907,525 (GRCm39) |
P597Q |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,578 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,275,673 (GRCm39) |
G393S |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,834 (GRCm39) |
I715T |
possibly 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 |
|
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 |
|
R4254:Adgrg2
|
UTSW |
X |
159,265,404 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-12-06 |
Incidental Mutation