Incidental Mutation 'R4861:Npy4r'
| ID |
374309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npy4r
|
| Ensembl Gene |
ENSMUSG00000048337 |
| Gene Name |
neuropeptide Y receptor Y4 |
| Synonyms |
NYYR-D, Ppyr1, Y4 |
| MMRRC Submission |
042472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4861 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33867603-33874376 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 33868840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 149
(W149*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052164]
|
| AlphaFold |
Q61041 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052164
AA Change: W149*
|
| SMART Domains |
Protein: ENSMUSP00000056576
Gene: ENSMUSG00000048337
AA Change: W149*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
52 |
337 |
2.5e-6 |
PFAM |
|
Pfam:7tm_1
|
58 |
322 |
1.6e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 87.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit decreased weight, increased drinking behavior, decreased food intake, aggression towards other mice, decreased white adipose tissue, and accelerated lobuloalveolar development during pregnancy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
| Bora |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
| Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
| Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
| Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
| Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
| Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
| Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
| Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
| Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
| Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
| Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
| Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
| Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
| Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
probably benign |
Het |
|
| Other mutations in Npy4r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Npy4r
|
APN |
14 |
33,868,614 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01449:Npy4r
|
APN |
14 |
33,868,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Npy4r
|
APN |
14 |
33,869,282 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03126:Npy4r
|
APN |
14 |
33,868,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0011:Npy4r
|
UTSW |
14 |
33,868,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0011:Npy4r
|
UTSW |
14 |
33,868,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0579:Npy4r
|
UTSW |
14 |
33,868,640 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2012:Npy4r
|
UTSW |
14 |
33,869,154 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3735:Npy4r
|
UTSW |
14 |
33,869,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4093:Npy4r
|
UTSW |
14 |
33,869,098 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4650:Npy4r
|
UTSW |
14 |
33,868,181 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4861:Npy4r
|
UTSW |
14 |
33,868,840 (GRCm39) |
nonsense |
probably null |
|
|
R4953:Npy4r
|
UTSW |
14 |
33,868,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Npy4r
|
UTSW |
14 |
33,868,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Npy4r
|
UTSW |
14 |
33,868,940 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5973:Npy4r
|
UTSW |
14 |
33,868,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6948:Npy4r
|
UTSW |
14 |
33,868,731 (GRCm39) |
missense |
probably benign |
|
|
R7251:Npy4r
|
UTSW |
14 |
33,868,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Npy4r
|
UTSW |
14 |
33,868,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9051:Npy4r
|
UTSW |
14 |
33,869,083 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9654:Npy4r
|
UTSW |
14 |
33,869,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGATCTGAAGACCAGGACAC -3'
(R):5'- AACCTACTCATTGCCAACCTGG -3'
Sequencing Primer
(F):5'- CAAAGCAGACGACCTTGTCTTC -3'
(R):5'- TCATGTGCCTCATCTGCCAAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation