Incidental Mutation 'R1172:Rxfp2'
ID |
99551 |
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 |
039245-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1172 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 149975021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 210
(V210A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
AlphaFold |
Q91ZZ5 |
Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000201612
AA Change: V210A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000144536 Gene: ENSMUSG00000053368 AA Change: V210A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (62/63) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
Adam7 |
T |
G |
14: 68,752,370 (GRCm39) |
K371N |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,705,182 (GRCm39) |
S1543T |
probably damaging |
Het |
Agbl4 |
A |
T |
4: 111,513,515 (GRCm39) |
|
probably benign |
Het |
Arid1b |
T |
A |
17: 5,389,575 (GRCm39) |
I1707N |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,453,514 (GRCm39) |
V864A |
probably benign |
Het |
Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
Bst1 |
A |
G |
5: 43,982,750 (GRCm39) |
|
probably null |
Het |
C9orf72 |
C |
A |
4: 35,218,630 (GRCm39) |
E76D |
probably damaging |
Het |
Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
Ccdc28b |
T |
C |
4: 129,514,682 (GRCm39) |
|
probably benign |
Het |
Cmas |
G |
T |
6: 142,702,604 (GRCm39) |
G36C |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
Epc1 |
A |
C |
18: 6,490,525 (GRCm39) |
Y31D |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,236,607 (GRCm39) |
C358S |
probably benign |
Het |
Fbxl13 |
A |
T |
5: 21,825,602 (GRCm39) |
|
probably benign |
Het |
Fermt2 |
T |
C |
14: 45,697,425 (GRCm39) |
D642G |
possibly damaging |
Het |
Fmnl2 |
A |
T |
2: 52,962,286 (GRCm39) |
N257I |
probably damaging |
Het |
Fry |
G |
A |
5: 150,404,959 (GRCm39) |
W793* |
probably null |
Het |
Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
Gm21718 |
T |
C |
14: 51,553,348 (GRCm39) |
|
noncoding transcript |
Het |
Gpld1 |
A |
G |
13: 25,141,549 (GRCm39) |
|
probably null |
Het |
Gtf3c2 |
A |
T |
5: 31,325,419 (GRCm39) |
Y500N |
probably damaging |
Het |
Hbs1l |
A |
G |
10: 21,180,537 (GRCm39) |
D73G |
probably damaging |
Het |
Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
Lamc2 |
A |
T |
1: 153,042,033 (GRCm39) |
S34T |
probably damaging |
Het |
Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
Lrrc19 |
A |
T |
4: 94,526,626 (GRCm39) |
Y310* |
probably null |
Het |
Map3k5 |
G |
A |
10: 19,932,394 (GRCm39) |
|
probably benign |
Het |
Map7 |
G |
A |
10: 20,121,045 (GRCm39) |
E92K |
probably damaging |
Het |
Mettl24 |
G |
A |
10: 40,613,704 (GRCm39) |
A148T |
probably benign |
Het |
Mosmo |
A |
G |
7: 120,329,745 (GRCm39) |
Y122C |
probably benign |
Het |
Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
Nkx3-1 |
T |
C |
14: 69,429,434 (GRCm39) |
S151P |
probably damaging |
Het |
Npm2 |
T |
A |
14: 70,889,661 (GRCm39) |
K54* |
probably null |
Het |
Npr1 |
T |
A |
3: 90,368,689 (GRCm39) |
D457V |
probably benign |
Het |
Nudt21 |
T |
C |
8: 94,757,757 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
Rftn2 |
A |
G |
1: 55,250,376 (GRCm39) |
V123A |
probably damaging |
Het |
Rpa1 |
A |
T |
11: 75,203,219 (GRCm39) |
V392D |
probably damaging |
Het |
Slc45a4 |
C |
T |
15: 73,477,278 (GRCm39) |
|
probably benign |
Het |
Syndig1l |
T |
A |
12: 84,725,942 (GRCm39) |
|
probably null |
Het |
Tctn1 |
G |
A |
5: 122,389,752 (GRCm39) |
R257* |
probably null |
Het |
Tenm4 |
A |
T |
7: 96,497,251 (GRCm39) |
E1179V |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
Vdr |
A |
T |
15: 97,767,214 (GRCm39) |
Y185N |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,654,799 (GRCm39) |
D503E |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,152 (GRCm39) |
E89V |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,313,453 (GRCm39) |
T438A |
probably benign |
Het |
Xrcc6 |
A |
G |
15: 81,915,364 (GRCm39) |
D94G |
probably damaging |
Het |
Ywhaq |
T |
C |
12: 21,445,024 (GRCm39) |
N207S |
probably benign |
Het |
Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
Het |
Zfp981 |
G |
A |
4: 146,622,221 (GRCm39) |
S382N |
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 |
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 |
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 |
|
Posted On |
2014-01-15 |