Incidental Mutation 'IGL00984:Rxfp2'
| ID |
27544 |
| 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 # |
IGL00984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149990597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 443
(S443P)
|
| 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: S453P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: S453P
| 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: S429P
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: S429P
| 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: S443P
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: S443P
| 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 |
|---|
| Adam26b |
T |
A |
8: 43,973,410 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,534 (GRCm39) |
H180L |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,308,489 (GRCm39) |
V96A |
probably damaging |
Het |
| Atp2c1 |
T |
A |
9: 105,295,778 (GRCm39) |
I649F |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,165,905 (GRCm39) |
Y125C |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,140,441 (GRCm39) |
V213A |
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,624 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
C |
T |
2: 121,799,767 (GRCm39) |
|
probably benign |
Het |
| Dohh |
G |
A |
10: 81,223,756 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,295,401 (GRCm39) |
D5971V |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,263,022 (GRCm39) |
M1006I |
unknown |
Het |
| Garin5b |
C |
T |
7: 4,760,526 (GRCm39) |
V729M |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,376,546 (GRCm39) |
D1322G |
probably damaging |
Het |
| Mcm3ap |
G |
T |
10: 76,335,400 (GRCm39) |
S1274I |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,326,202 (GRCm39) |
V97I |
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,539 (GRCm39) |
F248I |
probably damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,618 (GRCm39) |
L311H |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,331,447 (GRCm39) |
S276T |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,176,796 (GRCm39) |
C383* |
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,424,445 (GRCm39) |
D350G |
probably benign |
Het |
| Ptcd1 |
C |
T |
5: 145,102,239 (GRCm39) |
V27I |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,297,786 (GRCm39) |
R398* |
probably null |
Het |
| Rpl3l |
T |
C |
17: 24,954,445 (GRCm39) |
C336R |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,814,295 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,310,043 (GRCm39) |
M282T |
possibly damaging |
Het |
| Syt16 |
C |
T |
12: 74,269,604 (GRCm39) |
Q148* |
probably null |
Het |
| Timm23 |
A |
G |
14: 31,902,612 (GRCm39) |
I177T |
probably benign |
Het |
| Treh |
A |
G |
9: 44,594,264 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,046 (GRCm39) |
V214A |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,949,208 (GRCm39) |
P251S |
probably benign |
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation