Incidental Mutation 'R7012:Rxfp2'
| ID |
545070 |
| 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 |
045113-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150004659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 711
(V711A)
|
| 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: V735A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: V735A
| 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: V711A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: V711A
| 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 |
probably benign
Transcript: ENSMUST00000201612
AA Change: V725A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: V725A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| 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 |
|---|
| Acox3 |
T |
C |
5: 35,769,431 (GRCm39) |
F686L |
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,017,376 (GRCm39) |
V266I |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,401,750 (GRCm39) |
T249A |
probably damaging |
Het |
| Adss1 |
A |
G |
12: 112,600,670 (GRCm39) |
D213G |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,980,963 (GRCm39) |
V453G |
probably damaging |
Het |
| Apold1 |
G |
A |
6: 134,961,007 (GRCm39) |
G154R |
probably damaging |
Het |
| Birc5 |
A |
G |
11: 117,740,262 (GRCm39) |
E29G |
probably benign |
Het |
| Clcn1 |
G |
A |
6: 42,267,542 (GRCm39) |
R75H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,984,583 (GRCm39) |
I868F |
possibly damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,223 (GRCm39) |
V215E |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,450,511 (GRCm39) |
I140N |
possibly damaging |
Het |
| Cops5 |
A |
G |
1: 10,100,890 (GRCm39) |
*147Q |
probably null |
Het |
| Dbr1 |
T |
A |
9: 99,465,374 (GRCm39) |
Y317* |
probably null |
Het |
| Dock5 |
A |
C |
14: 68,060,035 (GRCm39) |
V468G |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,096 (GRCm39) |
I477V |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Git1 |
T |
C |
11: 77,390,606 (GRCm39) |
L114P |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,707 (GRCm39) |
|
probably null |
Het |
| Itih4 |
A |
G |
14: 30,612,706 (GRCm39) |
N244S |
probably benign |
Het |
| Lin28a |
A |
G |
4: 133,746,040 (GRCm39) |
S5P |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,915,060 (GRCm39) |
I372T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,765 (GRCm39) |
T143A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,406,914 (GRCm39) |
|
probably null |
Het |
| Or13c9 |
A |
G |
4: 52,936,193 (GRCm39) |
L30P |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,823 (GRCm39) |
M283L |
probably benign |
Het |
| Or5t16 |
A |
T |
2: 86,819,051 (GRCm39) |
H156Q |
possibly damaging |
Het |
| Or6e1 |
A |
G |
14: 54,519,674 (GRCm39) |
I226T |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,800,493 (GRCm39) |
G4438D |
unknown |
Het |
| Phlpp2 |
T |
A |
8: 110,603,486 (GRCm39) |
F51I |
possibly damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 79,905,352 (GRCm39) |
|
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,376,751 (GRCm39) |
S189T |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,868,621 (GRCm39) |
N965S |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 85,992,320 (GRCm39) |
N116S |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,777,313 (GRCm39) |
Y221H |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,032,287 (GRCm39) |
I613V |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,295,871 (GRCm39) |
|
probably null |
Het |
| Ston1 |
T |
C |
17: 88,943,413 (GRCm39) |
M273T |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,100,820 (GRCm39) |
Y53N |
probably damaging |
Het |
| Tmem132b |
T |
A |
5: 125,775,654 (GRCm39) |
L376Q |
probably damaging |
Het |
| Trim60 |
A |
G |
8: 65,453,043 (GRCm39) |
V402A |
possibly damaging |
Het |
| Tssk5 |
A |
C |
15: 76,257,745 (GRCm39) |
N178K |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,844,982 (GRCm39) |
I450T |
possibly damaging |
Het |
| Tyw1 |
T |
G |
5: 130,306,571 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,255,632 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,756 (GRCm39) |
V670A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,530 (GRCm39) |
N343D |
probably benign |
Het |
| Zfp472 |
T |
G |
17: 33,196,220 (GRCm39) |
N98K |
probably benign |
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 |
|
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 |
|
|
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'- GGTGAACAGCGCCTTAAACC -3'
(R):5'- CTATTCTCAGCTTGGTCCACAG -3'
Sequencing Primer
(F):5'- ATCCTCTACACTCTGACGACC -3'
(R):5'- TTGGTCCACAGGTCCTAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation