Incidental Mutation 'IGL02637:Rxfp2'
ID |
301541 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rxfp2
|
Ensembl Gene |
ENSMUSG00000053368 |
Gene Name |
relaxin/insulin-like family peptide receptor 2 |
Synonyms |
LGR8, Gpr106, Great |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02637
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 149979378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 246
(D246G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
AlphaFold |
Q91ZZ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065745
AA Change: D246G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000067897 Gene: ENSMUSG00000053368 AA Change: D246G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LDLa
|
27 |
65 |
2.55e-11 |
SMART |
LRRNT
|
93 |
124 |
3.83e0 |
SMART |
LRR
|
120 |
142 |
1.71e2 |
SMART |
LRR
|
143 |
166 |
6.77e0 |
SMART |
LRR_TYP
|
167 |
190 |
2.84e-5 |
SMART |
LRR
|
191 |
214 |
7.36e0 |
SMART |
LRR
|
215 |
238 |
1.26e1 |
SMART |
LRR
|
239 |
262 |
2.61e1 |
SMART |
LRR
|
263 |
286 |
8.98e1 |
SMART |
LRR_TYP
|
287 |
310 |
2.24e-3 |
SMART |
LRR
|
311 |
334 |
1.15e1 |
SMART |
LRR
|
335 |
358 |
2.14e1 |
SMART |
Pfam:7tm_1
|
415 |
674 |
1.4e-26 |
PFAM |
low complexity region
|
682 |
695 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110496
AA Change: D246G
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106122 Gene: ENSMUSG00000053368 AA Change: D246G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LDLa
|
27 |
65 |
2.55e-11 |
SMART |
LRRNT
|
93 |
124 |
3.83e0 |
SMART |
LRR
|
120 |
142 |
1.71e2 |
SMART |
LRR
|
143 |
166 |
6.77e0 |
SMART |
LRR_TYP
|
167 |
190 |
2.84e-5 |
SMART |
LRR
|
191 |
214 |
7.36e0 |
SMART |
LRR
|
215 |
238 |
1.26e1 |
SMART |
LRR
|
239 |
262 |
2.61e1 |
SMART |
LRR
|
263 |
286 |
2.82e0 |
SMART |
LRR
|
287 |
310 |
1.15e1 |
SMART |
LRR
|
311 |
334 |
2.14e1 |
SMART |
Pfam:7tm_1
|
391 |
650 |
1.5e-27 |
PFAM |
low complexity region
|
658 |
671 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201612
AA Change: D260G
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144536 Gene: ENSMUSG00000053368 AA Change: D260G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LDLa
|
27 |
65 |
1.3e-13 |
SMART |
LRRNT
|
93 |
124 |
1.9e-2 |
SMART |
LRR
|
120 |
142 |
7.4e-1 |
SMART |
LRR
|
143 |
166 |
2.9e-2 |
SMART |
LRR_TYP
|
167 |
190 |
1.2e-7 |
SMART |
LRR
|
229 |
252 |
5.4e-2 |
SMART |
LRR
|
253 |
276 |
1.1e-1 |
SMART |
LRR
|
277 |
300 |
1.2e-2 |
SMART |
LRR
|
301 |
324 |
5e-2 |
SMART |
LRR
|
325 |
348 |
9.3e-2 |
SMART |
Pfam:7tm_1
|
405 |
664 |
1.5e-24 |
PFAM |
low complexity region
|
672 |
685 |
N/A |
INTRINSIC |
|
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 GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] PHENOTYPE: Male homozygotes for a targeted null mutation exhibit bilateral intraabdominal cryptorchidism and sterility associated with a failure in the differentiation of the gubernaculae, ligaments that control testicular movement during development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,309,907 (GRCm39) |
Y435C |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,460,143 (GRCm39) |
|
probably benign |
Het |
Ampd1 |
T |
C |
3: 103,002,199 (GRCm39) |
|
probably benign |
Het |
Camk1g |
G |
A |
1: 193,030,696 (GRCm39) |
P338S |
probably benign |
Het |
Cog3 |
T |
C |
14: 75,959,636 (GRCm39) |
|
probably benign |
Het |
Crat |
A |
G |
2: 30,296,401 (GRCm39) |
V355A |
probably benign |
Het |
Ctla2a |
T |
A |
13: 61,083,899 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
C |
A |
2: 130,656,227 (GRCm39) |
|
probably benign |
Het |
Efhb |
A |
G |
17: 53,756,580 (GRCm39) |
I357T |
probably benign |
Het |
Fh1 |
T |
C |
1: 175,437,332 (GRCm39) |
M256V |
probably benign |
Het |
Gabrg3 |
A |
G |
7: 56,384,775 (GRCm39) |
I262T |
probably damaging |
Het |
Gata2 |
C |
T |
6: 88,181,558 (GRCm39) |
|
probably benign |
Het |
Gm6356 |
A |
G |
14: 6,970,926 (GRCm38) |
V178A |
possibly damaging |
Het |
Hacl1 |
T |
C |
14: 31,362,458 (GRCm39) |
E63G |
probably damaging |
Het |
Hid1 |
A |
T |
11: 115,241,421 (GRCm39) |
I623N |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,452 (GRCm39) |
K1017E |
possibly damaging |
Het |
Ifi208 |
C |
T |
1: 173,506,508 (GRCm39) |
T97I |
probably benign |
Het |
Ighg1 |
T |
C |
12: 113,293,132 (GRCm39) |
H186R |
unknown |
Het |
Igkv8-26 |
T |
C |
6: 70,170,642 (GRCm39) |
S78P |
probably damaging |
Het |
Itih3 |
T |
C |
14: 30,637,617 (GRCm39) |
N514S |
probably benign |
Het |
Kcnj16 |
A |
T |
11: 110,916,439 (GRCm39) |
D367V |
probably benign |
Het |
Klhl23 |
A |
T |
2: 69,659,258 (GRCm39) |
R428* |
probably null |
Het |
Lgmn |
T |
C |
12: 102,366,485 (GRCm39) |
E216G |
probably damaging |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
C |
T |
19: 3,680,269 (GRCm39) |
G405D |
probably benign |
Het |
Lrrc74a |
C |
T |
12: 86,788,521 (GRCm39) |
R53* |
probably null |
Het |
Lsm12 |
G |
A |
11: 102,054,948 (GRCm39) |
R123C |
probably benign |
Het |
Marchf5 |
T |
A |
19: 37,198,033 (GRCm39) |
|
probably benign |
Het |
Mark3 |
C |
A |
12: 111,559,090 (GRCm39) |
A44D |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,685,003 (GRCm39) |
N522I |
possibly damaging |
Het |
Nbeal2 |
G |
T |
9: 110,455,045 (GRCm39) |
R2611S |
possibly damaging |
Het |
Nlrp4d |
T |
C |
7: 10,116,482 (GRCm39) |
|
noncoding transcript |
Het |
Npnt |
T |
A |
3: 132,590,271 (GRCm39) |
I507F |
possibly damaging |
Het |
Or51a7 |
G |
A |
7: 102,622,250 (GRCm39) |
|
probably benign |
Het |
Pde4a |
T |
A |
9: 21,112,628 (GRCm39) |
L91Q |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,385,720 (GRCm39) |
V1017M |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,427,720 (GRCm39) |
N3259S |
probably damaging |
Het |
Plxnb2 |
A |
T |
15: 89,048,260 (GRCm39) |
H683Q |
possibly damaging |
Het |
Reck |
T |
A |
4: 43,898,009 (GRCm39) |
S96T |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,089,704 (GRCm39) |
K347E |
probably benign |
Het |
Ro60 |
A |
G |
1: 143,646,526 (GRCm39) |
V73A |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 142,080,327 (GRCm39) |
T1273I |
probably damaging |
Het |
Slc12a8 |
A |
T |
16: 33,355,330 (GRCm39) |
M49L |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,859,728 (GRCm39) |
|
probably null |
Het |
Surf2 |
A |
G |
2: 26,809,790 (GRCm39) |
K247E |
probably damaging |
Het |
Sys1 |
G |
A |
2: 164,303,312 (GRCm39) |
V9M |
possibly damaging |
Het |
Tcf4 |
G |
A |
18: 69,480,421 (GRCm39) |
D18N |
probably damaging |
Het |
Tmc6 |
A |
T |
11: 117,658,416 (GRCm39) |
V773D |
possibly damaging |
Het |
Trappc13 |
T |
C |
13: 104,286,570 (GRCm39) |
Q229R |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,984,099 (GRCm39) |
E481G |
probably benign |
Het |
Xpo5 |
C |
A |
17: 46,546,905 (GRCm39) |
D885E |
probably damaging |
Het |
|
Other mutations in Rxfp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00832:Rxfp2
|
APN |
5 |
149,989,893 (GRCm39) |
missense |
probably benign |
|
IGL00984:Rxfp2
|
APN |
5 |
149,990,597 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02475:Rxfp2
|
APN |
5 |
149,987,151 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02992:Rxfp2
|
APN |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03052:Rxfp2
|
APN |
5 |
149,966,645 (GRCm39) |
splice site |
probably benign |
|
IGL03203:Rxfp2
|
APN |
5 |
149,987,145 (GRCm39) |
missense |
probably benign |
0.08 |
R0158:Rxfp2
|
UTSW |
5 |
149,975,093 (GRCm39) |
missense |
probably benign |
0.14 |
R0394:Rxfp2
|
UTSW |
5 |
149,990,853 (GRCm39) |
missense |
probably benign |
0.03 |
R0499:Rxfp2
|
UTSW |
5 |
149,989,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R0576:Rxfp2
|
UTSW |
5 |
149,961,712 (GRCm39) |
missense |
probably benign |
0.01 |
R0720:Rxfp2
|
UTSW |
5 |
149,967,584 (GRCm39) |
missense |
probably benign |
0.04 |
R1172:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
R1173:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
R1174:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
R1175:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
R1606:Rxfp2
|
UTSW |
5 |
149,983,362 (GRCm39) |
missense |
probably benign |
|
R1720:Rxfp2
|
UTSW |
5 |
149,966,564 (GRCm39) |
nonsense |
probably null |
|
R2040:Rxfp2
|
UTSW |
5 |
149,993,677 (GRCm39) |
missense |
probably benign |
|
R3029:Rxfp2
|
UTSW |
5 |
149,966,595 (GRCm39) |
missense |
probably benign |
0.05 |
R3905:Rxfp2
|
UTSW |
5 |
149,979,450 (GRCm39) |
splice site |
probably null |
|
R4056:Rxfp2
|
UTSW |
5 |
149,975,098 (GRCm39) |
critical splice donor site |
probably null |
|
R4156:Rxfp2
|
UTSW |
5 |
149,975,020 (GRCm39) |
missense |
probably benign |
0.01 |
R4282:Rxfp2
|
UTSW |
5 |
149,993,735 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4418:Rxfp2
|
UTSW |
5 |
149,972,265 (GRCm39) |
missense |
probably benign |
|
R4935:Rxfp2
|
UTSW |
5 |
149,975,097 (GRCm39) |
critical splice donor site |
probably null |
|
R5010:Rxfp2
|
UTSW |
5 |
149,990,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Rxfp2
|
UTSW |
5 |
149,958,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R5373:Rxfp2
|
UTSW |
5 |
149,993,725 (GRCm39) |
missense |
probably benign |
0.21 |
R5374:Rxfp2
|
UTSW |
5 |
149,993,725 (GRCm39) |
missense |
probably benign |
0.21 |
R5530:Rxfp2
|
UTSW |
5 |
149,980,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R5844:Rxfp2
|
UTSW |
5 |
149,966,589 (GRCm39) |
missense |
probably benign |
0.00 |
R6021:Rxfp2
|
UTSW |
5 |
149,987,202 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6211:Rxfp2
|
UTSW |
5 |
149,967,591 (GRCm39) |
splice site |
probably null |
|
R6401:Rxfp2
|
UTSW |
5 |
149,966,595 (GRCm39) |
missense |
probably benign |
|
R6841:Rxfp2
|
UTSW |
5 |
149,942,210 (GRCm39) |
start gained |
probably benign |
|
R6981:Rxfp2
|
UTSW |
5 |
149,972,313 (GRCm39) |
splice site |
probably null |
|
R7012:Rxfp2
|
UTSW |
5 |
150,004,659 (GRCm39) |
missense |
probably benign |
0.00 |
R7032:Rxfp2
|
UTSW |
5 |
149,993,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Rxfp2
|
UTSW |
5 |
149,966,572 (GRCm39) |
missense |
probably benign |
0.01 |
R7205:Rxfp2
|
UTSW |
5 |
149,983,368 (GRCm39) |
missense |
probably benign |
0.00 |
R7205:Rxfp2
|
UTSW |
5 |
149,983,364 (GRCm39) |
missense |
probably benign |
0.05 |
R7209:Rxfp2
|
UTSW |
5 |
149,976,563 (GRCm39) |
splice site |
probably null |
|
R7468:Rxfp2
|
UTSW |
5 |
149,990,801 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7475:Rxfp2
|
UTSW |
5 |
149,973,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8181:Rxfp2
|
UTSW |
5 |
149,987,201 (GRCm39) |
missense |
probably benign |
0.22 |
R8258:Rxfp2
|
UTSW |
5 |
149,983,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R8259:Rxfp2
|
UTSW |
5 |
149,983,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R8443:Rxfp2
|
UTSW |
5 |
149,973,068 (GRCm39) |
missense |
possibly damaging |
0.45 |
R8470:Rxfp2
|
UTSW |
5 |
149,993,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8796:Rxfp2
|
UTSW |
5 |
149,942,262 (GRCm39) |
start gained |
probably benign |
|
R8906:Rxfp2
|
UTSW |
5 |
149,989,888 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9515:Rxfp2
|
UTSW |
5 |
149,979,444 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9682:Rxfp2
|
UTSW |
5 |
149,966,564 (GRCm39) |
nonsense |
probably null |
|
R9732:Rxfp2
|
UTSW |
5 |
149,993,767 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Rxfp2
|
UTSW |
5 |
149,975,083 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rxfp2
|
UTSW |
5 |
149,972,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |