Incidental Mutation 'R2040:Rxfp2'
| ID |
225516 |
| 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 |
040047-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 149993677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 580
(I580L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
| AlphaFold |
Q91ZZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065745
AA Change: I590L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: I590L
| 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: I566L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: I566L
| 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: I580L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: I580L
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (67/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,607 (GRCm39) |
I75L |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,333,817 (GRCm39) |
L1755P |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,454,364 (GRCm39) |
I394L |
probably benign |
Het |
| Ano2 |
T |
A |
6: 126,016,471 (GRCm39) |
N1001K |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,906,259 (GRCm39) |
N253K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,604,227 (GRCm39) |
C1316R |
probably benign |
Het |
| Atox1 |
T |
C |
11: 55,341,343 (GRCm39) |
Y64C |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,259,702 (GRCm39) |
T1098A |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,728 (GRCm39) |
E202G |
possibly damaging |
Het |
| Cct2 |
T |
C |
10: 116,889,018 (GRCm39) |
T494A |
probably benign |
Het |
| Cd209e |
T |
A |
8: 3,899,158 (GRCm39) |
N185Y |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,917,088 (GRCm39) |
L295P |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,499 (GRCm39) |
T48A |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,567 (GRCm39) |
S37G |
probably benign |
Het |
| Fbh1 |
T |
G |
2: 11,774,706 (GRCm39) |
D13A |
possibly damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Frem3 |
G |
T |
8: 81,342,455 (GRCm39) |
V1583L |
possibly damaging |
Het |
| Gm21863 |
C |
A |
12: 20,004,515 (GRCm39) |
Q4K |
possibly damaging |
Het |
| Gm266 |
T |
C |
12: 111,452,132 (GRCm39) |
T25A |
possibly damaging |
Het |
| Gm8674 |
T |
C |
13: 50,055,705 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
T |
C |
12: 16,752,651 (GRCm39) |
H897R |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,943,474 (GRCm39) |
D565G |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 107,049,684 (GRCm39) |
V426I |
probably damaging |
Het |
| Ints6 |
G |
A |
14: 62,951,138 (GRCm39) |
T297I |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,268,845 (GRCm39) |
M2628K |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,938,069 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,815,807 (GRCm39) |
D1230E |
probably benign |
Het |
| Mboat1 |
T |
C |
13: 30,425,300 (GRCm39) |
|
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,861,887 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
T |
C |
11: 87,495,916 (GRCm39) |
M527T |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,717 (GRCm39) |
N1050K |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,000 (GRCm39) |
V1768E |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,261,875 (GRCm39) |
C48Y |
probably damaging |
Het |
| Opn3 |
G |
A |
1: 175,491,145 (GRCm39) |
A296V |
possibly damaging |
Het |
| Or13a22 |
T |
C |
7: 140,073,295 (GRCm39) |
I248T |
probably benign |
Het |
| Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,792,167 (GRCm39) |
E418G |
possibly damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,126 (GRCm39) |
N493K |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,509,300 (GRCm39) |
Q165R |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,363,162 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,833,107 (GRCm39) |
F132S |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,730,630 (GRCm39) |
C244R |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,338,760 (GRCm39) |
V316G |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,330,145 (GRCm39) |
S198P |
probably damaging |
Het |
| Rsph9 |
T |
C |
17: 46,445,910 (GRCm39) |
D220G |
probably damaging |
Het |
| Septin7 |
G |
A |
9: 25,199,532 (GRCm39) |
A144T |
possibly damaging |
Het |
| Sfn |
T |
C |
4: 133,328,603 (GRCm39) |
K160E |
probably benign |
Het |
| Ski |
A |
G |
4: 155,306,029 (GRCm39) |
Y317H |
probably damaging |
Het |
| Skic3 |
A |
C |
13: 76,328,222 (GRCm39) |
R1423S |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,110,936 (GRCm39) |
Y430* |
probably null |
Het |
| Src |
A |
G |
2: 157,299,030 (GRCm39) |
K9R |
probably benign |
Het |
| Srm |
C |
T |
4: 148,678,453 (GRCm39) |
P255L |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,730,075 (GRCm39) |
N90I |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,031,069 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
T |
C |
2: 23,984,871 (GRCm39) |
K92R |
probably benign |
Het |
| Tlcd4 |
G |
T |
3: 121,024,975 (GRCm39) |
|
probably benign |
Het |
| Tmem38a |
T |
A |
8: 73,335,096 (GRCm39) |
N178K |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,900 (GRCm39) |
D160G |
possibly damaging |
Het |
| Vegfb |
T |
A |
19: 6,963,407 (GRCm39) |
H119L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,395 (GRCm39) |
I701F |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,561 (GRCm39) |
L436F |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,530,688 (GRCm39) |
C394R |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,988,241 (GRCm39) |
Y16* |
probably null |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp353-ps |
A |
G |
8: 42,535,333 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- GCCTTTGAAATCCTCTTTTAAGGC -3'
(R):5'- CCTGGTATCTCCACTTGAAGG -3'
Sequencing Primer
(F):5'- CCTCTTTTAAGGCTAATAGAAACCC -3'
(R):5'- TCCACTTGAAGGAGAGACAGGATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation