Incidental Mutation 'R6211:Rxfp2'
| ID |
503448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp2
|
| Ensembl Gene |
ENSMUSG00000053368 |
| Gene Name |
relaxin/insulin-like family peptide receptor 2 |
| Synonyms |
LGR8, Gpr106, Great |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 149967591 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 null
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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,881,503 (GRCm39) |
W391R |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,726,473 (GRCm39) |
S18R |
probably benign |
Het |
| Armc3 |
G |
A |
2: 19,301,614 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
G |
T |
10: 41,506,141 (GRCm39) |
S883* |
probably null |
Het |
| Cd300lg |
A |
G |
11: 101,944,995 (GRCm39) |
M358V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,246,600 (GRCm39) |
V949A |
possibly damaging |
Het |
| Cenpo |
C |
T |
12: 4,266,733 (GRCm39) |
S126N |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,243,503 (GRCm39) |
D1366E |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,078,248 (GRCm39) |
E169G |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,378,440 (GRCm39) |
T24A |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,528,145 (GRCm39) |
I558V |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,415,826 (GRCm39) |
R1440S |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,708,727 (GRCm39) |
|
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,517,187 (GRCm39) |
V158A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,795 (GRCm39) |
M3781T |
probably damaging |
Het |
| Dnai7 |
C |
T |
6: 145,146,217 (GRCm39) |
R95Q |
probably damaging |
Het |
| Elovl5 |
C |
A |
9: 77,888,784 (GRCm39) |
T217K |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,737,260 (GRCm39) |
M358I |
probably damaging |
Het |
| Fbxl13 |
C |
T |
5: 21,689,019 (GRCm39) |
R763Q |
possibly damaging |
Het |
| Gabrr3 |
C |
A |
16: 59,268,471 (GRCm39) |
N361K |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,938,429 (GRCm39) |
H1035Q |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,251,754 (GRCm39) |
M534V |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 124,003,017 (GRCm39) |
T162I |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,435,897 (GRCm39) |
L658Q |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,955,602 (GRCm39) |
Y1306C |
probably damaging |
Het |
| Homer3 |
C |
T |
8: 70,738,174 (GRCm39) |
R49C |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 87,998,822 (GRCm39) |
N308D |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,198,320 (GRCm39) |
T555M |
probably damaging |
Het |
| Lrfn5 |
G |
T |
12: 61,886,256 (GRCm39) |
V15L |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,952,458 (GRCm39) |
K493E |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,525,889 (GRCm39) |
I77T |
probably damaging |
Het |
| Mavs |
G |
T |
2: 131,082,311 (GRCm39) |
R65L |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,696,269 (GRCm39) |
D1217E |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,599 (GRCm39) |
F175I |
possibly damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,954 (GRCm39) |
Y220* |
probably null |
Het |
| Or9i1 |
A |
G |
19: 13,839,938 (GRCm39) |
I260M |
probably benign |
Het |
| Otof |
C |
A |
5: 30,529,244 (GRCm39) |
V1762L |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,374 (GRCm39) |
L31P |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,163,952 (GRCm38) |
P515T |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,344,368 (GRCm39) |
D1759E |
probably benign |
Het |
| Rps6ka1 |
A |
T |
4: 133,596,617 (GRCm39) |
F33Y |
probably damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,933,896 (GRCm39) |
I202N |
probably damaging |
Het |
| Slc24a5 |
A |
T |
2: 124,930,171 (GRCm39) |
I491F |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,854,775 (GRCm39) |
K625N |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,547,030 (GRCm39) |
V51A |
probably damaging |
Het |
| Sox6 |
G |
T |
7: 115,400,697 (GRCm39) |
H48Q |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,587 (GRCm39) |
Y114* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Timm13 |
A |
C |
10: 80,736,314 (GRCm39) |
|
probably null |
Het |
| Tpsb2 |
G |
A |
17: 25,586,737 (GRCm39) |
A250T |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,760,492 (GRCm39) |
I131T |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,976,554 (GRCm39) |
|
probably null |
Het |
| Vmn2r35 |
T |
A |
7: 7,789,527 (GRCm39) |
I737F |
probably damaging |
Het |
| Wdr46 |
C |
A |
17: 34,163,459 (GRCm39) |
T339K |
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 |
|
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 |
|
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'- AGAGAAGGCATGAACTCATCAC -3'
(R):5'- ACTATGGAATGAAAATGAAGCCCC -3'
Sequencing Primer
(F):5'- CTATAGCGCTATCAGGCTATGG -3'
(R):5'- TGGAATGAAAATGAAGCCCCCTTTC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation