Incidental Mutation 'R8939:Rxfp1'
| ID |
680825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp1
|
| Ensembl Gene |
ENSMUSG00000034009 |
| Gene Name |
relaxin/insulin-like family peptide receptor 1 |
| Synonyms |
LOC381489, Lgr7 |
| MMRRC Submission |
068712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R8939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79552231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 690
(E690G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078527]
[ENSMUST00000182491]
|
| AlphaFold |
Q6R6I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078527
AA Change: E690G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: E690G
| Domain | Start | End | E-Value | Type |
|---|
|
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
|
LRRNT
|
101 |
130 |
9.51e-1 |
SMART |
|
LRR
|
126 |
148 |
3.65e1 |
SMART |
|
LRR
|
149 |
172 |
1.19e1 |
SMART |
|
LRR_TYP
|
173 |
196 |
4.61e-5 |
SMART |
|
LRR
|
197 |
220 |
1.86e0 |
SMART |
|
LRR
|
221 |
244 |
1.86e2 |
SMART |
|
LRR
|
246 |
269 |
2.03e1 |
SMART |
|
LRR
|
270 |
293 |
1.76e2 |
SMART |
|
LRR_TYP
|
294 |
317 |
4.24e-4 |
SMART |
|
LRR
|
318 |
341 |
1.15e1 |
SMART |
|
LRR
|
342 |
365 |
3.65e1 |
SMART |
|
Pfam:7tm_1
|
422 |
681 |
2.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182491
|
| SMART Domains |
Protein: ENSMUSP00000138578
Gene: ENSMUSG00000034009
| Domain | Start | End | E-Value | Type |
|---|
|
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (71/71) |
| 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 leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced male fertility, particularly at younger ages and early generations. Impaired nipple development prevents nursing by females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
G |
14: 64,225,162 (GRCm39) |
V12A |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,243,947 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,624,977 (GRCm39) |
T473A |
probably damaging |
Het |
| Acsm1 |
A |
T |
7: 119,239,868 (GRCm39) |
T271S |
probably benign |
Het |
| Adh6b |
T |
C |
3: 138,055,397 (GRCm39) |
I49T |
probably benign |
Het |
| Aff4 |
A |
T |
11: 53,263,231 (GRCm39) |
T84S |
probably benign |
Het |
| Angptl7 |
G |
A |
4: 148,580,956 (GRCm39) |
R280* |
probably null |
Het |
| Bhlhe23 |
T |
A |
2: 180,418,099 (GRCm39) |
K146N |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,014,544 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
C |
G |
1: 172,372,834 (GRCm39) |
R510G |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,642,868 (GRCm39) |
Y202C |
probably damaging |
Het |
| Chrna6 |
T |
A |
8: 27,896,870 (GRCm39) |
T336S |
probably benign |
Het |
| Clpx |
A |
G |
9: 65,231,519 (GRCm39) |
K535E |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,376,512 (GRCm39) |
M1581V |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,758,823 (GRCm39) |
I246K |
probably benign |
Het |
| F7 |
G |
T |
8: 13,078,724 (GRCm39) |
G52C |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,177,223 (GRCm39) |
Q701R |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,456 (GRCm39) |
M605L |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,883 (GRCm39) |
F293S |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,618,170 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gsto2 |
T |
C |
19: 47,873,203 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,299 (GRCm39) |
W231R |
probably damaging |
Het |
| Igflr1 |
CAGAG |
CAG |
7: 30,266,888 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
C |
T |
12: 115,876,113 (GRCm39) |
G68R |
probably damaging |
Het |
| Il10ra |
A |
G |
9: 45,177,802 (GRCm39) |
V69A |
unknown |
Het |
| Klhdc1 |
C |
T |
12: 69,300,537 (GRCm39) |
A159V |
probably damaging |
Het |
| Krtap4-6 |
A |
G |
11: 99,556,229 (GRCm39) |
I166T |
unknown |
Het |
| Lce1h |
A |
T |
3: 92,670,976 (GRCm39) |
C59S |
unknown |
Het |
| Magi3 |
T |
C |
3: 103,996,748 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
G |
T |
13: 111,892,837 (GRCm39) |
S806* |
probably null |
Het |
| Map3k6 |
T |
A |
4: 132,979,954 (GRCm39) |
|
probably benign |
Het |
| Mgam |
G |
A |
6: 40,740,137 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
A |
G |
3: 89,120,033 (GRCm39) |
V207A |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,347,091 (GRCm39) |
N356Y |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,524,679 (GRCm39) |
F810S |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,166,761 (GRCm39) |
L774P |
probably damaging |
Het |
| Nr1i2 |
C |
T |
16: 38,086,382 (GRCm39) |
V28I |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,488,589 (GRCm39) |
K297R |
probably damaging |
Het |
| Or5b122 |
A |
C |
19: 13,562,860 (GRCm39) |
N64T |
probably damaging |
Het |
| Pcmtd2 |
T |
C |
2: 181,496,863 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,730,347 (GRCm39) |
L102P |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,571,319 (GRCm39) |
E114G |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,110,926 (GRCm39) |
V70A |
probably damaging |
Het |
| Psd2 |
G |
A |
18: 36,121,292 (GRCm39) |
V421M |
probably damaging |
Het |
| Qng1 |
C |
T |
13: 58,532,875 (GRCm39) |
A32T |
probably damaging |
Het |
| Rbak |
C |
T |
5: 143,160,025 (GRCm39) |
E343K |
possibly damaging |
Het |
| Rhbdf1 |
G |
A |
11: 32,160,093 (GRCm39) |
A136V |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,995,337 (GRCm39) |
E231D |
probably benign |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,776 (GRCm39) |
E88G |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,411,137 (GRCm39) |
|
probably null |
Het |
| Sgcb |
A |
T |
5: 73,801,661 (GRCm39) |
I68N |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,364,433 (GRCm39) |
|
probably benign |
Het |
| Slc25a48 |
C |
T |
13: 56,611,519 (GRCm39) |
P209S |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,311,895 (GRCm39) |
H614Q |
possibly damaging |
Het |
| Slurp1 |
G |
A |
15: 74,598,763 (GRCm39) |
S76L |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,202,969 (GRCm39) |
E1886G |
possibly damaging |
Het |
| Sqor |
C |
T |
2: 122,649,549 (GRCm39) |
P151S |
possibly damaging |
Het |
| Sstr4 |
C |
A |
2: 148,238,228 (GRCm39) |
L280M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,847 (GRCm39) |
Y117C |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 150,968,574 (GRCm39) |
|
probably null |
Het |
| Stim2 |
G |
T |
5: 54,262,673 (GRCm39) |
R305L |
possibly damaging |
Het |
| Syt14 |
G |
A |
1: 192,612,896 (GRCm39) |
R635C |
probably damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,381,483 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,575,695 (GRCm39) |
N23320S |
possibly damaging |
Het |
| Ubqln4 |
A |
G |
3: 88,473,023 (GRCm39) |
T493A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,158 (GRCm39) |
L501P |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,068,700 (GRCm39) |
I449V |
probably damaging |
Het |
| Vmn2r51 |
C |
A |
7: 9,833,953 (GRCm39) |
D362Y |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,346,488 (GRCm39) |
T2910P |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,498,315 (GRCm39) |
S28P |
probably benign |
Het |
|
| Other mutations in Rxfp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01758:Rxfp1
|
APN |
3 |
79,559,523 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01962:Rxfp1
|
APN |
3 |
79,594,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01975:Rxfp1
|
APN |
3 |
79,567,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01998:Rxfp1
|
APN |
3 |
79,567,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02049:Rxfp1
|
APN |
3 |
79,557,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02153:Rxfp1
|
APN |
3 |
79,567,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02490:Rxfp1
|
APN |
3 |
79,559,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02526:Rxfp1
|
APN |
3 |
79,578,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02985:Rxfp1
|
APN |
3 |
79,559,533 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03252:Rxfp1
|
APN |
3 |
79,574,990 (GRCm39) |
missense |
probably benign |
0.29 |
|
juggler
|
UTSW |
3 |
79,557,898 (GRCm39) |
nonsense |
probably null |
|
|
R0123:Rxfp1
|
UTSW |
3 |
79,564,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Rxfp1
|
UTSW |
3 |
79,564,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Rxfp1
|
UTSW |
3 |
79,552,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Rxfp1
|
UTSW |
3 |
79,589,842 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0265:Rxfp1
|
UTSW |
3 |
79,574,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Rxfp1
|
UTSW |
3 |
79,645,100 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R0394:Rxfp1
|
UTSW |
3 |
79,559,684 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0422:Rxfp1
|
UTSW |
3 |
79,558,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0547:Rxfp1
|
UTSW |
3 |
79,612,876 (GRCm39) |
splice site |
probably null |
|
|
R0627:Rxfp1
|
UTSW |
3 |
79,555,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0671:Rxfp1
|
UTSW |
3 |
79,570,600 (GRCm39) |
splice site |
probably null |
|
|
R1309:Rxfp1
|
UTSW |
3 |
79,570,599 (GRCm39) |
splice site |
probably null |
|
|
R1756:Rxfp1
|
UTSW |
3 |
79,578,188 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1803:Rxfp1
|
UTSW |
3 |
79,645,076 (GRCm39) |
missense |
probably benign |
|
|
R2415:Rxfp1
|
UTSW |
3 |
79,570,626 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2862:Rxfp1
|
UTSW |
3 |
79,589,778 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4087:Rxfp1
|
UTSW |
3 |
79,552,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4091:Rxfp1
|
UTSW |
3 |
79,552,068 (GRCm39) |
missense |
probably benign |
|
|
R4250:Rxfp1
|
UTSW |
3 |
79,559,579 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4335:Rxfp1
|
UTSW |
3 |
79,594,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4447:Rxfp1
|
UTSW |
3 |
79,559,434 (GRCm39) |
intron |
probably benign |
|
|
R4607:Rxfp1
|
UTSW |
3 |
79,594,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Rxfp1
|
UTSW |
3 |
79,594,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Rxfp1
|
UTSW |
3 |
79,612,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4768:Rxfp1
|
UTSW |
3 |
79,594,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Rxfp1
|
UTSW |
3 |
79,557,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4909:Rxfp1
|
UTSW |
3 |
79,552,109 (GRCm39) |
missense |
probably benign |
|
|
R5059:Rxfp1
|
UTSW |
3 |
79,570,619 (GRCm39) |
missense |
probably benign |
|
|
R5131:Rxfp1
|
UTSW |
3 |
79,559,471 (GRCm39) |
splice site |
probably null |
|
|
R5641:Rxfp1
|
UTSW |
3 |
79,594,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5711:Rxfp1
|
UTSW |
3 |
79,586,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Rxfp1
|
UTSW |
3 |
79,568,627 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5856:Rxfp1
|
UTSW |
3 |
79,570,620 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6296:Rxfp1
|
UTSW |
3 |
79,575,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Rxfp1
|
UTSW |
3 |
79,555,596 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6730:Rxfp1
|
UTSW |
3 |
79,557,898 (GRCm39) |
nonsense |
probably null |
|
|
R7059:Rxfp1
|
UTSW |
3 |
79,559,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Rxfp1
|
UTSW |
3 |
79,557,768 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7626:Rxfp1
|
UTSW |
3 |
79,555,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7684:Rxfp1
|
UTSW |
3 |
79,578,214 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7951:Rxfp1
|
UTSW |
3 |
79,559,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Rxfp1
|
UTSW |
3 |
79,557,802 (GRCm39) |
missense |
probably benign |
|
|
R8786:Rxfp1
|
UTSW |
3 |
79,570,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8887:Rxfp1
|
UTSW |
3 |
79,559,289 (GRCm39) |
intron |
probably benign |
|
|
R9245:Rxfp1
|
UTSW |
3 |
79,552,261 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9574:Rxfp1
|
UTSW |
3 |
79,563,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9579:Rxfp1
|
UTSW |
3 |
79,557,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Rxfp1
|
UTSW |
3 |
79,578,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Rxfp1
|
UTSW |
3 |
79,613,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rxfp1
|
UTSW |
3 |
79,559,674 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGCGACAGATCACAGGG -3'
(R):5'- TGGCATTCCTTTAAACACTGACAC -3'
Sequencing Primer
(F):5'- CGACAGATCACAGGGGTCTG -3'
(R):5'- AAGACATCCTGTAAATAACTTGGTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation