Incidental Mutation 'R1173:Rxfp2'
| ID |
99682 |
| 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 |
039246-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149975021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 210
(V210A)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000143989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201612
AA Change: V210A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: V210A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.9%
|
| Validation Efficiency |
99% (72/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,070,222 (GRCm39) |
S685N |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,071,843 (GRCm39) |
V129A |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,837 (GRCm39) |
F81S |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,749,409 (GRCm39) |
I186N |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,737,691 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
G |
A |
5: 122,926,481 (GRCm39) |
A619V |
possibly damaging |
Het |
| Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
| Bbox1 |
T |
C |
2: 110,095,956 (GRCm39) |
D336G |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
| Bpi |
A |
T |
2: 158,109,660 (GRCm39) |
I203F |
probably benign |
Het |
| Cd151 |
A |
C |
7: 141,050,569 (GRCm39) |
T241P |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,148,171 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,192 (GRCm39) |
S240A |
probably benign |
Het |
| Ddc |
A |
C |
11: 11,796,634 (GRCm39) |
|
probably null |
Het |
| Dkk1 |
T |
C |
19: 30,524,650 (GRCm39) |
R252G |
probably damaging |
Het |
| Dmrtc2 |
T |
A |
7: 24,573,738 (GRCm39) |
M191K |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
| Emx1 |
T |
C |
6: 85,165,353 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
C |
7: 84,250,344 (GRCm39) |
M1V |
probably null |
Het |
| Fmo6 |
A |
T |
1: 162,753,710 (GRCm39) |
M144K |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,868,589 (GRCm39) |
V1445A |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,301,708 (GRCm39) |
|
probably null |
Het |
| Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm19965 |
T |
A |
1: 116,748,550 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
| Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
| Htra4 |
T |
C |
8: 25,520,635 (GRCm39) |
D342G |
possibly damaging |
Het |
| Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
| Impdh2 |
T |
C |
9: 108,439,028 (GRCm39) |
F99S |
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
| Kazn |
A |
T |
4: 141,886,349 (GRCm39) |
|
probably benign |
Het |
| Kcnq3 |
T |
A |
15: 65,871,891 (GRCm39) |
T593S |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,977 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,968,946 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
| Meox2 |
T |
C |
12: 37,159,151 (GRCm39) |
C108R |
possibly damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,079,860 (GRCm39) |
C722F |
probably damaging |
Het |
| Or2a5 |
T |
C |
6: 42,874,285 (GRCm39) |
V300A |
probably benign |
Het |
| Pde10a |
C |
T |
17: 9,139,378 (GRCm39) |
|
probably benign |
Het |
| Ppfia4 |
A |
G |
1: 134,260,021 (GRCm39) |
|
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,088,742 (GRCm39) |
M1V |
probably null |
Het |
| Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,580,634 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
G |
A |
5: 129,584,207 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
A |
T |
10: 125,067,241 (GRCm39) |
L133I |
possibly damaging |
Het |
| Slc30a3 |
A |
T |
5: 31,244,154 (GRCm39) |
M376K |
probably damaging |
Het |
| Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,405,940 (GRCm39) |
C620Y |
probably null |
Het |
| Trip10 |
T |
A |
17: 57,560,363 (GRCm39) |
L100Q |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
| Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,767,214 (GRCm39) |
Y185N |
probably benign |
Het |
| Vmn1r123 |
C |
T |
7: 20,896,257 (GRCm39) |
P50S |
probably damaging |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,870 (GRCm39) |
H113L |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,152 (GRCm39) |
E89V |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,915,364 (GRCm39) |
D94G |
probably damaging |
Het |
| Zbtb32 |
T |
A |
7: 30,290,692 (GRCm39) |
E201V |
possibly damaging |
Het |
| Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,739,585 (GRCm39) |
H437L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation