Incidental Mutation 'R7209:Rxfp2'
| ID |
568663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp2
|
| Ensembl Gene |
ENSMUSG00000053368 |
| Gene Name |
relaxin/insulin-like family peptide receptor 2 |
| Synonyms |
LGR8, Gpr106, Great |
| MMRRC Submission |
045338-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7209 (G1)
|
| Quality Score |
103.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
splice site (186 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 149976563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
| AlphaFold |
Q91ZZ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065745
|
| SMART Domains |
Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
| 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 null
Transcript: ENSMUST00000110496
|
| SMART Domains |
Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
| 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 |
probably null
Transcript: ENSMUST00000201612
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
A |
G |
14: 68,767,268 (GRCm39) |
Y61H |
probably damaging |
Het |
| Adgrb1 |
T |
G |
15: 74,441,797 (GRCm39) |
V966G |
possibly damaging |
Het |
| Adh5 |
G |
A |
3: 138,148,909 (GRCm39) |
|
probably benign |
Het |
| Akr1b8 |
T |
C |
6: 34,333,207 (GRCm39) |
V28A |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,215,292 (GRCm39) |
I450F |
probably damaging |
Het |
| Arhgap23 |
C |
T |
11: 97,366,911 (GRCm39) |
T1064I |
probably damaging |
Het |
| Arhgap23 |
G |
C |
11: 97,383,273 (GRCm39) |
|
probably null |
Het |
| Atg4b |
A |
G |
1: 93,702,955 (GRCm39) |
I128M |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,503,065 (GRCm39) |
I19N |
probably damaging |
Het |
| Bspry |
T |
G |
4: 62,404,852 (GRCm39) |
I216S |
possibly damaging |
Het |
| Commd9 |
T |
A |
2: 101,725,483 (GRCm39) |
S19T |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 194,851,032 (GRCm39) |
C145R |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,649 (GRCm39) |
L447P |
probably damaging |
Het |
| Depdc1b |
T |
C |
13: 108,519,389 (GRCm39) |
M333T |
possibly damaging |
Het |
| Dhx9 |
T |
C |
1: 153,340,369 (GRCm39) |
T710A |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,459,371 (GRCm39) |
V4530A |
possibly damaging |
Het |
| Dohh |
T |
A |
10: 81,221,874 (GRCm39) |
H89Q |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,566,733 (GRCm39) |
N1171K |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,451,544 (GRCm39) |
|
probably null |
Het |
| Entpd5 |
T |
A |
12: 84,443,702 (GRCm39) |
S14C |
probably benign |
Het |
| Eqtn |
G |
A |
4: 94,813,806 (GRCm39) |
S125F |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
| Fgf18 |
A |
T |
11: 33,084,315 (GRCm39) |
D46E |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,590,077 (GRCm39) |
M48L |
probably benign |
Het |
| Gabrg1 |
C |
A |
5: 70,911,513 (GRCm39) |
C417F |
probably damaging |
Het |
| Glrp1 |
T |
A |
1: 88,431,004 (GRCm39) |
Q122L |
unknown |
Het |
| Gm5622 |
A |
G |
14: 51,893,363 (GRCm39) |
I97V |
possibly damaging |
Het |
| Gusb |
A |
G |
5: 130,027,387 (GRCm39) |
V306A |
probably benign |
Het |
| Hars1 |
A |
G |
18: 36,906,593 (GRCm39) |
S126P |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,292,314 (GRCm39) |
S356G |
possibly damaging |
Het |
| Hydin |
C |
A |
8: 111,216,424 (GRCm39) |
Y1336* |
probably null |
Het |
| Iftap |
T |
C |
2: 101,396,727 (GRCm39) |
*217W |
probably null |
Het |
| Kin |
T |
C |
2: 10,096,564 (GRCm39) |
Y138H |
possibly damaging |
Het |
| Lypd2 |
C |
T |
15: 74,604,266 (GRCm39) |
V101M |
probably benign |
Het |
| Madcam1 |
A |
T |
10: 79,500,892 (GRCm39) |
T70S |
possibly damaging |
Het |
| Man1a2 |
A |
G |
3: 100,554,395 (GRCm39) |
C112R |
unknown |
Het |
| Mia2 |
T |
A |
12: 59,201,176 (GRCm39) |
V198E |
possibly damaging |
Het |
| Mpdz |
C |
T |
4: 81,225,114 (GRCm39) |
V1438M |
possibly damaging |
Het |
| Mtif2 |
G |
A |
11: 29,479,996 (GRCm39) |
V21M |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nln |
G |
A |
13: 104,209,406 (GRCm39) |
Q56* |
probably null |
Het |
| Nlrp4b |
T |
C |
7: 10,444,297 (GRCm39) |
V82A |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,975,933 (GRCm39) |
E2065* |
probably null |
Het |
| Or10g1 |
A |
G |
14: 52,647,550 (GRCm39) |
C260R |
possibly damaging |
Het |
| Pilrb2 |
C |
T |
5: 137,869,126 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
C |
A |
12: 79,097,150 (GRCm39) |
D99E |
probably benign |
Het |
| Polr2b |
T |
A |
5: 77,491,026 (GRCm39) |
F956I |
probably damaging |
Het |
| Ppp3cc |
A |
G |
14: 70,504,947 (GRCm39) |
F20L |
probably benign |
Het |
| Prmt9 |
T |
C |
8: 78,291,627 (GRCm39) |
V333A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,357 (GRCm39) |
S430P |
probably damaging |
Het |
| Relch |
C |
A |
1: 105,678,082 (GRCm39) |
P1136T |
probably damaging |
Het |
| Rrp12 |
A |
C |
19: 41,861,388 (GRCm39) |
V973G |
possibly damaging |
Het |
| S100a6 |
G |
A |
3: 90,521,095 (GRCm39) |
A8T |
possibly damaging |
Het |
| Sgsm2 |
C |
A |
11: 74,745,151 (GRCm39) |
G717V |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,705,003 (GRCm39) |
Y531H |
probably damaging |
Het |
| Slc45a1 |
A |
C |
4: 150,719,669 (GRCm39) |
|
probably null |
Het |
| Spopfm3 |
A |
T |
3: 94,106,012 (GRCm39) |
Q110L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,308,948 (GRCm39) |
L743F |
probably damaging |
Het |
| Taar2 |
A |
T |
10: 23,816,597 (GRCm39) |
I46F |
possibly damaging |
Het |
| Tmem241 |
A |
T |
18: 12,237,229 (GRCm39) |
V69D |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,993,074 (GRCm39) |
S535G |
possibly damaging |
Het |
| Trgc3 |
A |
G |
13: 19,445,334 (GRCm39) |
N94S |
probably benign |
Het |
| Ttc34 |
C |
A |
4: 154,923,585 (GRCm39) |
P98Q |
probably damaging |
Het |
| Ubr1 |
C |
A |
2: 120,693,246 (GRCm39) |
R1720L |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,846,478 (GRCm39) |
D1597E |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,091,883 (GRCm39) |
M1930T |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,751,576 (GRCm39) |
I603F |
not run |
Het |
| Vps26b |
A |
T |
9: 26,921,288 (GRCm39) |
S304T |
probably benign |
Het |
| Zfp952 |
A |
T |
17: 33,222,444 (GRCm39) |
T308S |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAACCTGTTCTGTGCTAGG -3'
(R):5'- GCAAAGCCTTACATGTTTGGG -3'
Sequencing Primer
(F):5'- AACCTGTTCTGTGCTAGGAAGGAG -3'
(R):5'- CAAGTCTGTGTAGCATATGCCCG -3'
|
| Posted On |
2019-09-06 |
Incidental Mutation