Incidental Mutation 'R7032:Rxfp2'
| ID |
546375 |
| 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 |
045133-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7032 (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 149993813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 611
(I611T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
| AlphaFold |
Q91ZZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065745
AA Change: I635T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: I635T
| 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 damaging
Transcript: ENSMUST00000110496
AA Change: I611T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: I611T
| 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 damaging
Transcript: ENSMUST00000201612
AA Change: I625T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: I625T
| 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% (67/67) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,438 (GRCm39) |
D398E |
possibly damaging |
Het |
| Adam34 |
T |
C |
8: 44,105,303 (GRCm39) |
Y114C |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,004,896 (GRCm39) |
D156E |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,889,825 (GRCm39) |
S408T |
probably benign |
Het |
| Asb14 |
C |
T |
14: 26,625,412 (GRCm39) |
H256Y |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,627,181 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
T |
A |
8: 69,541,548 (GRCm39) |
V35E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,255,289 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
C |
A |
10: 4,432,597 (GRCm39) |
P12Q |
unknown |
Het |
| Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
| Cdo1 |
A |
T |
18: 46,853,475 (GRCm39) |
F94L |
probably damaging |
Het |
| Cfap96 |
T |
G |
8: 46,409,474 (GRCm39) |
S282R |
probably damaging |
Het |
| Chdh |
C |
T |
14: 29,758,809 (GRCm39) |
P585S |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,683,391 (GRCm39) |
N407S |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,453,329 (GRCm39) |
S465C |
probably benign |
Het |
| Clip2 |
C |
A |
5: 134,551,484 (GRCm39) |
V213L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,707 (GRCm39) |
S1194P |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,268,463 (GRCm39) |
T421A |
possibly damaging |
Het |
| Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,796 (GRCm39) |
N2002D |
probably damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,528 (GRCm39) |
N15Y |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,936,147 (GRCm39) |
V647G |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,353,424 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
G |
13: 49,102,589 (GRCm39) |
V222A |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,457,864 (GRCm39) |
I242K |
possibly damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,319 (GRCm39) |
M131T |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,744,283 (GRCm39) |
N2100S |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,855,916 (GRCm39) |
D38V |
possibly damaging |
Het |
| Klhl9 |
G |
A |
4: 88,639,843 (GRCm39) |
Q133* |
probably null |
Het |
| Krt84 |
T |
C |
15: 101,436,924 (GRCm39) |
E370G |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,410 (GRCm39) |
I12T |
probably benign |
Het |
| Lrriq4 |
T |
A |
3: 30,709,850 (GRCm39) |
L398* |
probably null |
Het |
| Ltf |
G |
A |
9: 110,855,198 (GRCm39) |
|
probably null |
Het |
| Macf1 |
C |
T |
4: 123,366,101 (GRCm39) |
V1322I |
probably benign |
Het |
| Mark2 |
T |
A |
19: 7,264,698 (GRCm39) |
I112L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,649 (GRCm39) |
|
probably null |
Het |
| Mterf2 |
A |
T |
10: 84,956,527 (GRCm39) |
C32* |
probably null |
Het |
| Myo3b |
C |
T |
2: 69,925,608 (GRCm39) |
T25I |
probably damaging |
Het |
| Nsun7 |
A |
C |
5: 66,421,378 (GRCm39) |
I115L |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,883,805 (GRCm39) |
V36M |
probably damaging |
Het |
| Or1p1c |
T |
C |
11: 74,160,428 (GRCm39) |
I71T |
possibly damaging |
Het |
| Or5d44 |
T |
C |
2: 88,141,373 (GRCm39) |
T256A |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,965 (GRCm39) |
Y262F |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,983 (GRCm39) |
S246T |
possibly damaging |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,962 (GRCm39) |
R677S |
probably benign |
Het |
| Prrt4 |
A |
C |
6: 29,170,538 (GRCm39) |
L638R |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rab44 |
T |
C |
17: 29,359,438 (GRCm39) |
F542S |
unknown |
Het |
| Rhobtb3 |
T |
A |
13: 76,020,513 (GRCm39) |
E596D |
probably benign |
Het |
| Rpl36 |
T |
C |
17: 56,920,944 (GRCm39) |
I44T |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,737,762 (GRCm39) |
I112V |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,675,865 (GRCm39) |
N553K |
probably damaging |
Het |
| Spata31d1d |
T |
A |
13: 59,876,046 (GRCm39) |
R496S |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,125 (GRCm39) |
D387G |
possibly damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,153 (GRCm39) |
C299S |
possibly damaging |
Het |
| Tbc1d21 |
A |
T |
9: 58,274,134 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
A |
T |
7: 35,180,471 (GRCm39) |
Y847* |
probably null |
Het |
| Tlr2 |
A |
T |
3: 83,745,212 (GRCm39) |
N290K |
probably benign |
Het |
| Tmppe |
A |
G |
9: 114,234,858 (GRCm39) |
T386A |
probably damaging |
Het |
| Tnks1bp1 |
C |
A |
2: 84,892,297 (GRCm39) |
H741Q |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,609,951 (GRCm39) |
V140M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,932 (GRCm39) |
D13427G |
probably damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,371 (GRCm39) |
L106I |
possibly damaging |
Het |
| Unc5b |
T |
G |
10: 60,614,587 (GRCm39) |
T237P |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,932,294 (GRCm39) |
D467A |
probably damaging |
Het |
| Vmn1r103 |
T |
C |
7: 20,243,780 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,017 (GRCm39) |
Y196* |
probably null |
Het |
| Zhx3 |
A |
G |
2: 160,622,898 (GRCm39) |
V423A |
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 |
|
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 |
|
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'- TGTGAACTTGCTGGCTTTCC -3'
(R):5'- GCTAAGAACCACTAGCTAGCTCAG -3'
Sequencing Primer
(F):5'- GAACTTGCTGGCTTTCCTCGTC -3'
(R):5'- TAATTGTTTGTACCGATGCCATAGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation