Incidental Mutation 'IGL00594:Adgrg2'
| ID |
3079 |
| 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 # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
159173686-159281066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 159268773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 677
(V677I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108021
(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: V688I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108017
Gene: ENSMUSG00000031298
AA Change: V688I
| 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: V691I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000108019
Gene: ENSMUSG00000031298
AA Change: V691I
| 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 benign
Transcript: ENSMUST00000112401
AA Change: V674I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000108020
Gene: ENSMUSG00000031298
AA Change: V674I
| 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: V677I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108021
Gene: ENSMUSG00000031298
AA Change: V677I
| 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: V664I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108023
Gene: ENSMUSG00000031298
AA Change: V664I
| 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 benign
Transcript: ENSMUST00000112405
AA Change: V675I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108024
Gene: ENSMUSG00000031298
AA Change: V675I
| 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 benign
Transcript: ENSMUST00000112408
AA Change: V688I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108027
Gene: ENSMUSG00000031298
AA Change: V688I
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Adgrg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4254:Adgrg2
|
UTSW |
X |
159,265,404 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-04-20 |
Incidental Mutation