Incidental Mutation 'R8258:Rxfp2'
| ID |
640064 |
| 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 |
067684-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8258 (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 A
at 149983365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 300
(I300K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
| AlphaFold |
Q91ZZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065745
AA Change: I300K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
AA Change: I300K
| 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 |
possibly damaging
Transcript: ENSMUST00000110496
AA Change: I276K
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
AA Change: I276K
| 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: I290K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
AA Change: I290K
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
G |
17: 84,983,523 (GRCm39) |
T144P |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,628,417 (GRCm39) |
N263S |
probably null |
Het |
| Aebp2 |
A |
T |
6: 140,583,453 (GRCm39) |
Q309L |
possibly damaging |
Het |
| Akap7 |
A |
G |
10: 25,047,054 (GRCm39) |
Y281H |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,299,859 (GRCm39) |
A588T |
probably damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,624,228 (GRCm39) |
D236G |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,208,077 (GRCm39) |
D470E |
probably benign |
Het |
| Capn8 |
G |
T |
1: 182,392,698 (GRCm39) |
V25L |
probably benign |
Het |
| Card10 |
A |
G |
15: 78,660,884 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ccr1 |
T |
A |
9: 123,764,119 (GRCm39) |
H137L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,151,435 (GRCm39) |
D2483E |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,085,532 (GRCm39) |
Q1701K |
probably benign |
Het |
| Cimap2 |
C |
T |
4: 106,448,859 (GRCm39) |
G400S |
probably damaging |
Het |
| Ckmt2 |
T |
A |
13: 92,007,335 (GRCm39) |
R286S |
probably damaging |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,214 (GRCm39) |
D133V |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,476,458 (GRCm39) |
I283F |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,901,887 (GRCm39) |
V3046A |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,063,763 (GRCm39) |
V3A |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,795,702 (GRCm39) |
S76P |
possibly damaging |
Het |
| Fgg |
C |
T |
3: 82,917,477 (GRCm39) |
Q169* |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,450,666 (GRCm39) |
V558I |
probably benign |
Het |
| Gm4779 |
G |
C |
X: 100,837,390 (GRCm39) |
T171S |
possibly damaging |
Het |
| Incenp |
A |
G |
19: 9,870,993 (GRCm39) |
L212P |
unknown |
Het |
| Incenp |
G |
C |
19: 9,871,005 (GRCm39) |
T208R |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,949,666 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
C |
7: 25,057,848 (GRCm39) |
M2095T |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,941,391 (GRCm39) |
V308I |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,139,341 (GRCm39) |
H580Q |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,920 (GRCm39) |
M47K |
probably benign |
Het |
| Nrxn1 |
C |
A |
17: 90,471,249 (GRCm39) |
R1260L |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,815 (GRCm39) |
I202V |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,847 (GRCm39) |
L130P |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,458 (GRCm39) |
I173V |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,727 (GRCm39) |
M258T |
possibly damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,021 (GRCm39) |
W354* |
probably null |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,189,672 (GRCm39) |
R3052G |
unknown |
Het |
| Prx |
T |
C |
7: 27,218,808 (GRCm39) |
L1242P |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,633 (GRCm39) |
I183T |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,291,755 (GRCm39) |
E254G |
probably benign |
Het |
| Rhot2 |
C |
A |
17: 26,058,864 (GRCm39) |
R512L |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,193,550 (GRCm39) |
N594D |
probably benign |
Het |
| Scarf1 |
T |
A |
11: 75,414,689 (GRCm39) |
S486T |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,220,928 (GRCm39) |
V455A |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,148,653 (GRCm39) |
V686A |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,721,562 (GRCm39) |
E1206G |
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,996,143 (GRCm39) |
Q2228K |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,198 (GRCm39) |
G1430S |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,511,492 (GRCm39) |
A253S |
probably benign |
Het |
| Trpm1 |
G |
A |
7: 63,918,777 (GRCm39) |
A1590T |
probably benign |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,686 (GRCm39) |
M144K |
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,421,114 (GRCm39) |
D68G |
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 |
|
|
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 |
|
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'- ACTCATGGGGTCTTGCCATG -3'
(R):5'- AAGTTGTTTGAGACTTCCAAACTGG -3'
Sequencing Primer
(F):5'- CCATGTCATGAGTTCGAAGCCTG -3'
(R):5'- CCAAACTGGTTCTTGTGGACATACAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation