Incidental Mutation 'R5139:Qrfprl'
ID |
396347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qrfprl
|
Ensembl Gene |
ENSMUSG00000029917 |
Gene Name |
pyroglutamylated RFamide peptide receptor like |
Synonyms |
C130060K24Rik |
MMRRC Submission |
042725-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5139 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
65358278-65435134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65433203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 341
(N341I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130225
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133352]
[ENSMUST00000170608]
|
AlphaFold |
G3UWA8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000133352
|
SMART Domains |
Protein: ENSMUSP00000122416 Gene: ENSMUSG00000029917
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
49 |
N/A |
INTRINSIC |
Pfam:7TM_GPCR_Srsx
|
55 |
113 |
1.2e-7 |
PFAM |
Pfam:7tm_1
|
61 |
122 |
1.3e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136016
|
SMART Domains |
Protein: ENSMUSP00000121875 Gene: ENSMUSG00000029917
Domain | Start | End | E-Value | Type |
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170608
AA Change: N341I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130225 Gene: ENSMUSG00000029917 AA Change: N341I
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
49 |
N/A |
INTRINSIC |
Pfam:7TM_GPCR_Srsx
|
55 |
346 |
2.5e-5 |
PFAM |
Pfam:7tm_1
|
61 |
331 |
7.2e-56 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
C |
4: 148,029,905 (GRCm39) |
L625P |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,648,027 (GRCm39) |
S598P |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,982,019 (GRCm39) |
D1101A |
probably damaging |
Het |
Aoah |
T |
C |
13: 21,207,407 (GRCm39) |
V542A |
possibly damaging |
Het |
Aox1 |
T |
C |
1: 58,100,456 (GRCm39) |
S418P |
probably benign |
Het |
Appl1 |
A |
G |
14: 26,669,112 (GRCm39) |
I354T |
probably benign |
Het |
BC035947 |
T |
C |
1: 78,475,884 (GRCm39) |
E216G |
possibly damaging |
Het |
Bnip3l |
A |
G |
14: 67,237,064 (GRCm39) |
S63P |
probably damaging |
Het |
Cckar |
T |
C |
5: 53,860,265 (GRCm39) |
N188S |
probably benign |
Het |
Ccl24 |
C |
T |
5: 135,601,775 (GRCm39) |
A18T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,232,569 (GRCm39) |
C840R |
probably benign |
Het |
Copa |
C |
T |
1: 171,948,896 (GRCm39) |
R1183W |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,876,024 (GRCm39) |
V2621A |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,248,061 (GRCm39) |
Y1019H |
probably damaging |
Het |
Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
Ighv3-8 |
T |
C |
12: 114,285,994 (GRCm39) |
Y116C |
probably damaging |
Het |
Igkv4-70 |
G |
A |
6: 69,245,089 (GRCm39) |
T44I |
probably damaging |
Het |
Lce3c |
G |
A |
3: 92,852,778 (GRCm39) |
G80S |
unknown |
Het |
Ldhb |
A |
T |
6: 142,439,921 (GRCm39) |
N206K |
probably damaging |
Het |
Mical1 |
T |
A |
10: 41,354,411 (GRCm39) |
|
probably null |
Het |
Myh2 |
T |
C |
11: 67,070,174 (GRCm39) |
L402P |
probably damaging |
Het |
Naa15 |
T |
A |
3: 51,351,261 (GRCm39) |
L144I |
probably damaging |
Het |
Nbea |
T |
A |
3: 55,534,384 (GRCm39) |
I2918F |
possibly damaging |
Het |
Or5w11 |
C |
A |
2: 87,459,000 (GRCm39) |
H64Q |
probably benign |
Het |
Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
Pdlim7 |
A |
G |
13: 55,654,869 (GRCm39) |
S214P |
probably damaging |
Het |
Polg |
T |
C |
7: 79,099,773 (GRCm39) |
D49G |
probably damaging |
Het |
Polr2f |
C |
A |
15: 79,035,858 (GRCm39) |
D106E |
possibly damaging |
Het |
Ppp6r3 |
A |
C |
19: 3,514,610 (GRCm39) |
N766K |
probably damaging |
Het |
Prl8a1 |
T |
A |
13: 27,758,049 (GRCm39) |
D220V |
probably damaging |
Het |
Septin9 |
A |
G |
11: 117,247,511 (GRCm39) |
K497E |
possibly damaging |
Het |
Sfswap |
T |
G |
5: 129,648,073 (GRCm39) |
M927R |
possibly damaging |
Het |
Smad9 |
T |
G |
3: 54,704,827 (GRCm39) |
W400G |
possibly damaging |
Het |
St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
Tesmin |
A |
G |
19: 3,456,934 (GRCm39) |
I238V |
probably damaging |
Het |
Trf |
C |
T |
9: 103,100,133 (GRCm39) |
|
probably null |
Het |
Trpc3 |
A |
T |
3: 36,725,706 (GRCm39) |
M90K |
possibly damaging |
Het |
Tshz3 |
C |
T |
7: 36,470,450 (GRCm39) |
T813I |
probably benign |
Het |
Tub |
T |
A |
7: 108,610,309 (GRCm39) |
M1K |
probably null |
Het |
Wdfy3 |
A |
T |
5: 101,997,133 (GRCm39) |
|
probably null |
Het |
Zfp853 |
T |
C |
5: 143,274,570 (GRCm39) |
Q350R |
unknown |
Het |
|
Other mutations in Qrfprl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02084:Qrfprl
|
APN |
6 |
65,358,594 (GRCm39) |
missense |
probably benign |
0.36 |
IGL03335:Qrfprl
|
APN |
6 |
65,430,101 (GRCm39) |
critical splice donor site |
probably null |
|
R1291:Qrfprl
|
UTSW |
6 |
65,429,884 (GRCm39) |
nonsense |
probably null |
|
R1689:Qrfprl
|
UTSW |
6 |
65,358,591 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1705:Qrfprl
|
UTSW |
6 |
65,433,290 (GRCm39) |
missense |
probably benign |
0.01 |
R2188:Qrfprl
|
UTSW |
6 |
65,418,260 (GRCm39) |
missense |
probably damaging |
0.97 |
R3955:Qrfprl
|
UTSW |
6 |
65,430,092 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4058:Qrfprl
|
UTSW |
6 |
65,358,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R4572:Qrfprl
|
UTSW |
6 |
65,431,975 (GRCm39) |
missense |
probably benign |
0.06 |
R4597:Qrfprl
|
UTSW |
6 |
65,424,408 (GRCm39) |
critical splice donor site |
probably null |
|
R4756:Qrfprl
|
UTSW |
6 |
65,429,898 (GRCm39) |
missense |
probably benign |
0.02 |
R5872:Qrfprl
|
UTSW |
6 |
65,418,369 (GRCm39) |
intron |
probably benign |
|
R6193:Qrfprl
|
UTSW |
6 |
65,433,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R6305:Qrfprl
|
UTSW |
6 |
65,431,975 (GRCm39) |
missense |
probably benign |
0.06 |
R6423:Qrfprl
|
UTSW |
6 |
65,433,077 (GRCm39) |
missense |
probably benign |
0.01 |
R6453:Qrfprl
|
UTSW |
6 |
65,430,014 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6677:Qrfprl
|
UTSW |
6 |
65,433,229 (GRCm39) |
missense |
probably benign |
|
R6744:Qrfprl
|
UTSW |
6 |
65,418,324 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6793:Qrfprl
|
UTSW |
6 |
65,358,405 (GRCm39) |
missense |
probably benign |
0.20 |
R6875:Qrfprl
|
UTSW |
6 |
65,433,320 (GRCm39) |
missense |
probably benign |
0.21 |
R6941:Qrfprl
|
UTSW |
6 |
65,424,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R6995:Qrfprl
|
UTSW |
6 |
65,418,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R7063:Qrfprl
|
UTSW |
6 |
65,418,387 (GRCm39) |
intron |
probably benign |
|
R7564:Qrfprl
|
UTSW |
6 |
65,429,891 (GRCm39) |
nonsense |
probably null |
|
R7699:Qrfprl
|
UTSW |
6 |
65,429,940 (GRCm39) |
missense |
probably benign |
0.30 |
R7700:Qrfprl
|
UTSW |
6 |
65,429,940 (GRCm39) |
missense |
probably benign |
0.30 |
R7711:Qrfprl
|
UTSW |
6 |
65,418,357 (GRCm39) |
missense |
|
|
R7799:Qrfprl
|
UTSW |
6 |
65,433,121 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7801:Qrfprl
|
UTSW |
6 |
65,418,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R8737:Qrfprl
|
UTSW |
6 |
65,433,260 (GRCm39) |
missense |
probably benign |
|
R8762:Qrfprl
|
UTSW |
6 |
65,424,393 (GRCm39) |
missense |
probably benign |
0.12 |
R8927:Qrfprl
|
UTSW |
6 |
65,358,597 (GRCm39) |
nonsense |
probably null |
|
R8928:Qrfprl
|
UTSW |
6 |
65,358,597 (GRCm39) |
nonsense |
probably null |
|
R9317:Qrfprl
|
UTSW |
6 |
65,424,368 (GRCm39) |
missense |
probably benign |
0.10 |
R9405:Qrfprl
|
UTSW |
6 |
65,433,078 (GRCm39) |
missense |
probably benign |
0.16 |
R9712:Qrfprl
|
UTSW |
6 |
65,433,124 (GRCm39) |
missense |
probably benign |
0.00 |
RF018:Qrfprl
|
UTSW |
6 |
65,433,174 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGACTCCTTTTAGTCATGAGAATG -3'
(R):5'- CTTGATATCGATGTTGCTGCCC -3'
Sequencing Primer
(F):5'- GAGAATGTTTCACATCATTTAGCCAC -3'
(R):5'- GATGTTGCTGCCCCCAAATG -3'
|
Posted On |
2016-06-21 |