Incidental Mutation 'R8796:Rxfp2'
| ID |
671255 |
| 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 |
068637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 149942262 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 benign
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 benign
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 benign
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,629,482 (GRCm39) |
T182S |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,297,248 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
A |
4: 40,179,037 (GRCm39) |
D345E |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,066,509 (GRCm39) |
V9A |
probably benign |
Het |
| Akap1 |
A |
C |
11: 88,730,498 (GRCm39) |
I597S |
probably damaging |
Het |
| B4galnt4 |
C |
T |
7: 140,647,488 (GRCm39) |
T385I |
probably damaging |
Het |
| Bbof1 |
A |
T |
12: 84,460,068 (GRCm39) |
T112S |
possibly damaging |
Het |
| Chd7 |
C |
A |
4: 8,838,691 (GRCm39) |
H1297N |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 137,003,351 (GRCm39) |
F147L |
probably damaging |
Het |
| Coq7 |
C |
T |
7: 118,126,640 (GRCm39) |
E143K |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,498 (GRCm39) |
N430S |
probably damaging |
Het |
| Cxcl12 |
G |
T |
6: 117,155,553 (GRCm39) |
K92N |
possibly damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,026 (GRCm39) |
F95S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,255,850 (GRCm39) |
H480L |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,165,320 (GRCm39) |
C14Y |
probably damaging |
Het |
| Gja5 |
A |
G |
3: 96,958,419 (GRCm39) |
I159V |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,785,123 (GRCm39) |
Q1487L |
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,675,158 (GRCm39) |
Q1168L |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,020 (GRCm39) |
Y214F |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,226,965 (GRCm39) |
K98E |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,117,146 (GRCm39) |
N2480K |
|
Het |
| Lrp1b |
A |
G |
2: 40,793,426 (GRCm39) |
C2610R |
|
Het |
| Mast4 |
T |
C |
13: 102,919,899 (GRCm39) |
Y536C |
probably benign |
Het |
| Ntrk1 |
A |
G |
3: 87,690,422 (GRCm39) |
S407P |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,297,129 (GRCm39) |
M527K |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,201 (GRCm39) |
V182A |
|
Het |
| Or5m9b |
G |
A |
2: 85,905,518 (GRCm39) |
V145M |
possibly damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,847,407 (GRCm39) |
S89P |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,860,017 (GRCm39) |
I1091T |
probably benign |
Het |
| Psg16 |
C |
A |
7: 16,827,814 (GRCm39) |
H166N |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,234,345 (GRCm39) |
Y332F |
probably damaging |
Het |
| Rab31 |
A |
T |
17: 66,079,529 (GRCm39) |
I4K |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,499,665 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,038,685 (GRCm39) |
S453G |
|
Het |
| S100a8 |
A |
G |
3: 90,576,865 (GRCm39) |
E6G |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,376 (GRCm39) |
K94E |
probably damaging |
Het |
| Sema4d |
A |
T |
13: 51,865,546 (GRCm39) |
F297I |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,848,723 (GRCm39) |
K287E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
| Skint6 |
G |
T |
4: 112,661,891 (GRCm39) |
T1231K |
possibly damaging |
Het |
| Slc35b3 |
C |
T |
13: 39,121,722 (GRCm39) |
|
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,784 (GRCm39) |
M634K |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,460,190 (GRCm39) |
D1424G |
probably benign |
Het |
| Snx21 |
G |
A |
2: 164,628,749 (GRCm39) |
V131I |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,945,848 (GRCm39) |
V516A |
probably benign |
Het |
| Tas2r120 |
A |
T |
6: 132,634,081 (GRCm39) |
R54S |
probably damaging |
Het |
| Tmem109 |
A |
T |
19: 10,849,995 (GRCm39) |
L99Q |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,946,485 (GRCm39) |
S309P |
possibly damaging |
Het |
| Trav11 |
C |
T |
14: 53,757,227 (GRCm39) |
A85V |
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,653,314 (GRCm39) |
R12631C |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,917 (GRCm39) |
T678S |
possibly damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,282,933 (GRCm39) |
M209T |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,500 (GRCm39) |
M123L |
probably benign |
Het |
| Wdr41 |
T |
G |
13: 95,151,575 (GRCm39) |
L245R |
possibly damaging |
Het |
| Wwp2 |
G |
T |
8: 108,283,189 (GRCm39) |
G814W |
probably null |
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 |
|
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 |
|
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'- ACACCGTGATGAATGTAATGTTCAG -3'
(R):5'- ACACCGCACAGAGTCTCTTG -3'
Sequencing Primer
(F):5'- ATGTTCAGAAACACCAGTC -3'
(R):5'- GCACAGAGTCTCTTGTAAACATC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation