Incidental Mutation 'R0394:Rxfp2'
ID |
31850 |
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 |
038600-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0394 (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 149990853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 514
(V514A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
AlphaFold |
Q91ZZ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065745
AA Change: V538A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000067897 Gene: ENSMUSG00000053368 AA Change: V538A
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: V514A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106122 Gene: ENSMUSG00000053368 AA Change: V514A
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: V528A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000144536 Gene: ENSMUSG00000053368 AA Change: V528A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
Validation Efficiency |
99% (79/80) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
A |
3: 137,773,065 (GRCm39) |
S751R |
probably damaging |
Het |
Abca8a |
A |
G |
11: 109,917,169 (GRCm39) |
V1610A |
probably damaging |
Het |
Actl10 |
A |
T |
2: 154,394,957 (GRCm39) |
H202L |
probably benign |
Het |
Alox12 |
A |
T |
11: 70,136,761 (GRCm39) |
V489E |
probably damaging |
Het |
Ap4m1 |
T |
A |
5: 138,170,465 (GRCm39) |
F5I |
probably benign |
Het |
Atn1 |
T |
C |
6: 124,726,696 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,661,608 (GRCm39) |
N529K |
probably benign |
Het |
B3gntl1 |
C |
T |
11: 121,510,541 (GRCm39) |
G336D |
probably damaging |
Het |
Bmp1 |
G |
A |
14: 70,727,474 (GRCm39) |
A703V |
probably damaging |
Het |
Brat1 |
T |
G |
5: 140,704,141 (GRCm39) |
L798R |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,602,458 (GRCm39) |
G1302R |
probably damaging |
Het |
Cdr2 |
A |
T |
7: 120,557,954 (GRCm39) |
D190E |
probably benign |
Het |
Cenpe |
T |
C |
3: 134,922,186 (GRCm39) |
|
probably benign |
Het |
Clstn1 |
A |
G |
4: 149,728,635 (GRCm39) |
D687G |
probably benign |
Het |
Coro1a |
A |
G |
7: 126,299,812 (GRCm39) |
F337L |
probably benign |
Het |
Ddx49 |
T |
A |
8: 70,749,575 (GRCm39) |
I252F |
probably damaging |
Het |
Dennd2a |
T |
A |
6: 39,499,746 (GRCm39) |
D273V |
possibly damaging |
Het |
Derl2 |
A |
T |
11: 70,905,387 (GRCm39) |
F32I |
probably benign |
Het |
Dmrta1 |
A |
G |
4: 89,580,276 (GRCm39) |
Y412C |
probably damaging |
Het |
Dsg1a |
A |
G |
18: 20,466,807 (GRCm39) |
N559S |
probably damaging |
Het |
Dusp26 |
G |
T |
8: 31,581,987 (GRCm39) |
R27L |
probably benign |
Het |
Eif2ak3 |
T |
C |
6: 70,862,202 (GRCm39) |
I492T |
probably benign |
Het |
Exoc7 |
G |
T |
11: 116,191,224 (GRCm39) |
Q219K |
probably damaging |
Het |
F2r |
T |
C |
13: 95,740,984 (GRCm39) |
T184A |
probably damaging |
Het |
Fbf1 |
G |
A |
11: 116,043,288 (GRCm39) |
|
probably benign |
Het |
Fbxo28 |
A |
G |
1: 182,144,580 (GRCm39) |
M328T |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,821,419 (GRCm39) |
D5717E |
possibly damaging |
Het |
Gnpat |
C |
A |
8: 125,606,964 (GRCm39) |
S373R |
possibly damaging |
Het |
Golgb1 |
G |
T |
16: 36,695,941 (GRCm39) |
|
probably benign |
Het |
Greb1l |
T |
C |
18: 10,523,374 (GRCm39) |
V844A |
probably damaging |
Het |
Hps1 |
G |
T |
19: 42,759,338 (GRCm39) |
|
probably null |
Het |
Inppl1 |
G |
T |
7: 101,477,402 (GRCm39) |
|
probably benign |
Het |
Isca1 |
C |
T |
13: 59,906,699 (GRCm39) |
|
probably null |
Het |
Itgb2 |
T |
A |
10: 77,378,309 (GRCm39) |
C46S |
probably damaging |
Het |
Kifc5b |
C |
T |
17: 27,142,056 (GRCm39) |
T178M |
probably benign |
Het |
Krt80 |
T |
C |
15: 101,250,180 (GRCm39) |
T22A |
probably damaging |
Het |
L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,853,198 (GRCm39) |
|
probably benign |
Het |
Mettl18 |
A |
G |
1: 163,823,910 (GRCm39) |
D77G |
probably benign |
Het |
Mfsd2a |
A |
G |
4: 122,843,961 (GRCm39) |
L336P |
probably benign |
Het |
Mgat4b |
A |
G |
11: 50,121,746 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
C |
T |
6: 113,257,649 (GRCm39) |
R233* |
probably null |
Het |
Nbea |
T |
C |
3: 55,937,328 (GRCm39) |
Y761C |
probably damaging |
Het |
Neb |
A |
T |
2: 52,067,571 (GRCm39) |
|
probably null |
Het |
Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
Obi1 |
T |
C |
14: 104,716,289 (GRCm39) |
R695G |
possibly damaging |
Het |
Or6c70 |
T |
A |
10: 129,709,811 (GRCm39) |
I272L |
probably benign |
Het |
Oxr1 |
T |
A |
15: 41,680,593 (GRCm39) |
M177K |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,901,405 (GRCm39) |
Y98C |
probably damaging |
Het |
Pi4kb |
G |
T |
3: 94,904,115 (GRCm39) |
|
probably benign |
Het |
Pi4kb |
G |
A |
3: 94,904,116 (GRCm39) |
|
probably benign |
Het |
Pirb |
T |
A |
7: 3,722,247 (GRCm39) |
S199C |
probably benign |
Het |
Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
Rapgef3 |
A |
T |
15: 97,655,700 (GRCm39) |
|
probably benign |
Het |
Rdh7 |
T |
A |
10: 127,720,539 (GRCm39) |
T278S |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,277,538 (GRCm39) |
D606G |
probably benign |
Het |
Rxfp1 |
T |
A |
3: 79,559,684 (GRCm39) |
Y379F |
possibly damaging |
Het |
Scel |
A |
T |
14: 103,799,954 (GRCm39) |
E202V |
probably benign |
Het |
Slc25a36 |
G |
A |
9: 96,962,257 (GRCm39) |
A244V |
probably benign |
Het |
Slc2a13 |
T |
G |
15: 91,400,595 (GRCm39) |
Q209P |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,399,304 (GRCm39) |
N456S |
probably benign |
Het |
Slc6a12 |
G |
T |
6: 121,323,957 (GRCm39) |
|
probably null |
Het |
Spag6l |
T |
C |
16: 16,598,493 (GRCm39) |
I333V |
probably benign |
Het |
Spen |
G |
A |
4: 141,201,514 (GRCm39) |
A2371V |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,657,466 (GRCm39) |
D366G |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,940,696 (GRCm39) |
S5G |
probably benign |
Het |
Tex56 |
T |
C |
13: 35,116,636 (GRCm39) |
|
probably benign |
Het |
Tle2 |
T |
C |
10: 81,413,482 (GRCm39) |
L84P |
probably damaging |
Het |
Tmem14a |
T |
C |
1: 21,296,876 (GRCm39) |
M78T |
probably damaging |
Het |
Top2b |
T |
A |
14: 16,413,556 (GRCm38) |
|
probably null |
Het |
Trmt13 |
A |
G |
3: 116,376,299 (GRCm39) |
F364S |
probably damaging |
Het |
Unkl |
T |
A |
17: 25,449,751 (GRCm39) |
|
probably null |
Het |
Uvrag |
A |
G |
7: 98,653,926 (GRCm39) |
|
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,949,938 (GRCm39) |
N303I |
probably benign |
Het |
Vsig10l |
A |
G |
7: 43,114,879 (GRCm39) |
N360S |
probably damaging |
Het |
Zdhhc25 |
T |
C |
15: 88,485,123 (GRCm39) |
Y153H |
probably damaging |
Het |
Zfp646 |
T |
C |
7: 127,482,434 (GRCm39) |
V1537A |
possibly damaging |
Het |
Zfp664 |
T |
A |
5: 124,963,129 (GRCm39) |
Y174* |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTATCAGAAGTATGCGCTGCTGTG -3'
(R):5'- AGGGTTTCAGGACTGGGCACTAAC -3'
Sequencing Primer
(F):5'- ATGGAGAGTGTGCCCTGC -3'
(R):5'- CCACACTAAATCTCAGCaataaaaag -3'
|
Posted On |
2013-04-24 |