Incidental Mutation 'IGL00832:Rxfp2'
ID |
13889 |
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 # |
IGL00832
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 149989893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 425
(M425L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
AlphaFold |
Q91ZZ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065745
AA Change: M435L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067897 Gene: ENSMUSG00000053368 AA Change: M435L
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 |
probably benign
Transcript: ENSMUST00000110496
AA Change: M411L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106122 Gene: ENSMUSG00000053368 AA Change: M411L
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: ENSMUST00000138901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201612
AA Change: M425L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144536 Gene: ENSMUSG00000053368 AA Change: M425L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202037
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,209,193 (GRCm39) |
Y407C |
probably damaging |
Het |
Amtn |
T |
G |
5: 88,532,908 (GRCm39) |
H174Q |
possibly damaging |
Het |
Cdon |
T |
A |
9: 35,389,412 (GRCm39) |
I839N |
probably damaging |
Het |
Ces2g |
A |
G |
8: 105,694,471 (GRCm39) |
|
probably benign |
Het |
Cgas |
A |
T |
9: 78,341,599 (GRCm39) |
C393S |
probably damaging |
Het |
Colq |
G |
T |
14: 31,250,303 (GRCm39) |
C367* |
probably null |
Het |
Dop1b |
T |
C |
16: 93,560,289 (GRCm39) |
V745A |
probably benign |
Het |
E2f8 |
C |
T |
7: 48,517,951 (GRCm39) |
G657D |
probably damaging |
Het |
Gpcpd1 |
G |
A |
2: 132,388,770 (GRCm39) |
T334M |
probably damaging |
Het |
Gria2 |
T |
C |
3: 80,614,558 (GRCm39) |
D494G |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,253,632 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
G |
A |
5: 31,330,349 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
G |
A |
3: 3,706,336 (GRCm39) |
C77Y |
probably damaging |
Het |
Ido1 |
G |
A |
8: 25,074,575 (GRCm39) |
T265I |
possibly damaging |
Het |
Ifih1 |
A |
G |
2: 62,475,814 (GRCm39) |
|
probably benign |
Het |
Itga6 |
A |
G |
2: 71,668,606 (GRCm39) |
|
probably null |
Het |
Kctd10 |
C |
A |
5: 114,506,997 (GRCm39) |
|
probably null |
Het |
Ltk |
A |
T |
2: 119,586,086 (GRCm39) |
|
probably benign |
Het |
Luc7l3 |
T |
C |
11: 94,194,768 (GRCm39) |
D84G |
probably benign |
Het |
Mc3r |
A |
T |
2: 172,090,948 (GRCm39) |
I57F |
possibly damaging |
Het |
Mmp1b |
T |
A |
9: 7,387,023 (GRCm39) |
Q63L |
possibly damaging |
Het |
Ncr1 |
C |
A |
7: 4,344,287 (GRCm39) |
T225N |
possibly damaging |
Het |
Nf2 |
T |
C |
11: 4,741,123 (GRCm39) |
K364E |
probably benign |
Het |
Ppl |
A |
T |
16: 4,906,839 (GRCm39) |
L1152H |
probably damaging |
Het |
Primpol |
A |
G |
8: 47,034,632 (GRCm39) |
V432A |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
Slc5a3 |
T |
C |
16: 91,874,519 (GRCm39) |
M192T |
probably damaging |
Het |
Tbx18 |
T |
A |
9: 87,587,714 (GRCm39) |
S468C |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,468,864 (GRCm39) |
T104A |
probably benign |
Het |
Unc13b |
T |
G |
4: 43,258,921 (GRCm39) |
V4153G |
probably damaging |
Het |
Vmn1r188 |
A |
G |
13: 22,272,351 (GRCm39) |
T102A |
probably damaging |
Het |
|
Other mutations in Rxfp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02637:Rxfp2
|
APN |
5 |
149,979,378 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2012-12-06 |