Incidental Mutation 'R4768:Rxfp1'
ID |
366263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rxfp1
|
Ensembl Gene |
ENSMUSG00000034009 |
Gene Name |
relaxin/insulin-like family peptide receptor 1 |
Synonyms |
LOC381489, Lgr7 |
MMRRC Submission |
042409-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R4768 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79594175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 73
(D73G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078527]
[ENSMUST00000182491]
|
AlphaFold |
Q6R6I7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078527
AA Change: D73G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000077611 Gene: ENSMUSG00000034009 AA Change: D73G
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 damaging
Transcript: ENSMUST00000182491
AA Change: D73G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138578 Gene: ENSMUSG00000034009 AA Change: D73G
Domain | Start | End | E-Value | Type |
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
A |
G |
3: 153,628,579 (GRCm39) |
Y419H |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,872,264 (GRCm39) |
V326A |
possibly damaging |
Het |
Amdhd1 |
T |
A |
10: 93,370,346 (GRCm39) |
E164V |
possibly damaging |
Het |
Arhgap5 |
T |
C |
12: 52,604,275 (GRCm39) |
L29S |
probably damaging |
Het |
Asb5 |
G |
A |
8: 55,038,031 (GRCm39) |
D185N |
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,576,595 (GRCm39) |
I850T |
probably damaging |
Het |
Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
Bmp4 |
C |
T |
14: 46,623,381 (GRCm39) |
R55Q |
probably damaging |
Het |
Brd8dc |
T |
C |
18: 34,714,005 (GRCm39) |
R207G |
probably damaging |
Het |
Cmas |
T |
C |
6: 142,710,157 (GRCm39) |
|
probably null |
Het |
Dchs1 |
T |
C |
7: 105,420,827 (GRCm39) |
D531G |
possibly damaging |
Het |
Etv1 |
T |
C |
12: 38,877,792 (GRCm39) |
L44P |
probably damaging |
Het |
Fam13c |
T |
A |
10: 70,387,580 (GRCm39) |
I448N |
probably damaging |
Het |
Fcsk |
T |
C |
8: 111,618,766 (GRCm39) |
T331A |
probably benign |
Het |
Fut8 |
A |
G |
12: 77,412,054 (GRCm39) |
K135E |
probably benign |
Het |
Gabrg1 |
A |
G |
5: 70,911,516 (GRCm39) |
F370S |
probably damaging |
Het |
Ighv1-5 |
A |
T |
12: 114,477,143 (GRCm39) |
M53K |
probably damaging |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Kansl1l |
A |
G |
1: 66,840,292 (GRCm39) |
V336A |
probably damaging |
Het |
Krt27 |
T |
A |
11: 99,240,351 (GRCm39) |
D189V |
probably damaging |
Het |
Marf1 |
A |
T |
16: 13,949,461 (GRCm39) |
F1033I |
possibly damaging |
Het |
Mdfi |
G |
A |
17: 48,135,475 (GRCm39) |
T85M |
probably damaging |
Het |
Mrgpra3 |
C |
A |
7: 47,239,476 (GRCm39) |
R150L |
possibly damaging |
Het |
Mst1r |
C |
A |
9: 107,788,849 (GRCm39) |
T456K |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,263,099 (GRCm39) |
M1734K |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,277,751 (GRCm39) |
I816T |
possibly damaging |
Het |
Or7d10 |
A |
C |
9: 19,831,841 (GRCm39) |
N112T |
possibly damaging |
Het |
Or8b12 |
T |
C |
9: 37,658,177 (GRCm39) |
L249P |
probably damaging |
Het |
Or8b55 |
T |
A |
9: 38,727,245 (GRCm39) |
Y149N |
probably damaging |
Het |
Or8k28 |
A |
T |
2: 86,285,994 (GRCm39) |
L207* |
probably null |
Het |
Pde4d |
A |
G |
13: 110,070,408 (GRCm39) |
R6G |
probably damaging |
Het |
Pilrb1 |
G |
A |
5: 137,855,788 (GRCm39) |
|
probably benign |
Het |
Prrx1 |
A |
G |
1: 163,085,334 (GRCm39) |
Y199H |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,704,246 (GRCm39) |
|
probably benign |
Het |
Shprh |
A |
G |
10: 11,057,284 (GRCm39) |
E1068G |
probably damaging |
Het |
Slc19a3 |
G |
A |
1: 83,000,834 (GRCm39) |
T61I |
probably damaging |
Het |
Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
Suclg2 |
T |
G |
6: 95,543,469 (GRCm39) |
I321L |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,599,110 (GRCm39) |
|
probably benign |
Het |
Upp2 |
T |
C |
2: 58,667,907 (GRCm39) |
V182A |
probably damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,596,602 (GRCm39) |
L151P |
probably damaging |
Het |
Xylt2 |
T |
C |
11: 94,561,298 (GRCm39) |
D155G |
probably benign |
Het |
Zzz3 |
A |
G |
3: 152,154,420 (GRCm39) |
D557G |
probably damaging |
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 |
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 |
|
R8939:Rxfp1
|
UTSW |
3 |
79,552,231 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GATGCTTGCAACTAGAAAACCATAC -3'
(R):5'- TAAATATGGAGACTGGGGCCAC -3'
Sequencing Primer
(F):5'- TTGCAACTAGAAAACCATACTTGAC -3'
(R):5'- TGGGGACAGAAACGCATACCC -3'
|
Posted On |
2015-12-21 |