Incidental Mutation 'R5711:Rxfp1'
| ID |
501435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rxfp1
|
| Ensembl Gene |
ENSMUSG00000034009 |
| Gene Name |
relaxin/insulin-like family peptide receptor 1 |
| Synonyms |
LOC381489, Lgr7 |
| MMRRC Submission |
043185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R5711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79548918-79645187 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79586054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 96
(C96Y)
|
| 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: M131I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000077611
Gene: ENSMUSG00000034009
AA Change: M131I
| 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 |
noncoding transcript
Transcript: ENSMUST00000182345
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182491
AA Change: C96Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138578
Gene: ENSMUSG00000034009
AA Change: C96Y
| Domain | Start | End | E-Value | Type |
|---|
|
LDLa
|
26 |
64 |
1.61e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
| Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
| Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
| Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
| Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
| Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
| Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
| Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
| Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
| Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
possibly 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 |
|
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 |
|
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'- TGCAAGTCTTCAGCTAAGGG -3'
(R):5'- CTCCCAGACTGACTTGGAGAAAG -3'
Sequencing Primer
(F):5'- GCTAAGGGATAAATACTTTCTCGAGG -3'
(R):5'- AGAAAGTGTGACTAGTCAGGCTTTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation