Incidental Mutation 'R1174:Rxfp2'
ID |
99799 |
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 |
039247-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1174 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
Actn3 |
A |
G |
19: 4,914,784 (GRCm39) |
L477P |
probably damaging |
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 |
Alpk1 |
T |
A |
3: 127,474,459 (GRCm39) |
S515C |
probably damaging |
Het |
Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Cox4i1 |
C |
A |
8: 121,400,789 (GRCm39) |
N151K |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,870,472 (GRCm39) |
L432P |
probably damaging |
Het |
Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
Fes |
A |
T |
7: 80,027,699 (GRCm39) |
I815N |
probably damaging |
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 |
Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
Hdac1-ps |
A |
T |
17: 78,799,507 (GRCm39) |
Y166F |
probably benign |
Het |
Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
Lypd6b |
C |
T |
2: 49,833,609 (GRCm39) |
A83V |
possibly damaging |
Het |
Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
Mfsd13a |
T |
A |
19: 46,363,125 (GRCm39) |
I511N |
probably benign |
Het |
Mrm3 |
T |
C |
11: 76,140,850 (GRCm39) |
V286A |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
Neurl4 |
T |
C |
11: 69,794,547 (GRCm39) |
|
probably null |
Het |
Pclo |
T |
C |
5: 14,727,660 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
Rgs12 |
T |
A |
5: 35,123,809 (GRCm39) |
C531S |
probably benign |
Het |
Rin1 |
C |
A |
19: 5,105,231 (GRCm39) |
Q764K |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,324,348 (GRCm39) |
R959W |
probably damaging |
Het |
Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
Sos1 |
A |
C |
17: 80,753,037 (GRCm39) |
Y323* |
probably null |
Het |
Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 133,031,834 (GRCm39) |
E308G |
probably benign |
Het |
Tdo2 |
A |
T |
3: 81,881,683 (GRCm39) |
S40R |
probably damaging |
Het |
Tle4 |
C |
T |
19: 14,445,626 (GRCm39) |
V207I |
probably benign |
Het |
Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
Vwa1 |
C |
T |
4: 155,857,723 (GRCm39) |
G25D |
probably damaging |
Het |
Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
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 |
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 |