Incidental Mutation 'R1452:Nphp4'
| ID |
161063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphp4
|
| Ensembl Gene |
ENSMUSG00000039577 |
| Gene Name |
nephronophthisis 4 (juvenile) homolog (human) |
| Synonyms |
nmf192, 4930564O18Rik |
| MMRRC Submission |
039507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R1452 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152476706-152563183 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 152547018 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 792
(Q792E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056567]
[ENSMUST00000081393]
|
| AlphaFold |
P59240 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056567
AA Change: Q792E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049920
Gene: ENSMUSG00000039577
AA Change: Q792E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
909 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081393
AA Change: Q792E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080128
Gene: ENSMUSG00000039577
AA Change: Q792E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
909 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142027
|
| Meta Mutation Damage Score |
0.1384 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.5%
|
| Validation Efficiency |
99% (70/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310007B03Rik |
T |
C |
1: 93,152,939 (GRCm38) |
Y415C |
probably damaging |
Het |
| 2810474O19Rik |
A |
T |
6: 149,326,632 (GRCm38) |
K392I |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,678,056 (GRCm38) |
I1446M |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,295,059 (GRCm38) |
|
probably benign |
Het |
| Adgre4 |
A |
T |
17: 55,784,996 (GRCm38) |
E85D |
probably benign |
Het |
| Akt3 |
A |
T |
1: 177,131,067 (GRCm38) |
Y26N |
possibly damaging |
Het |
| Arl15 |
T |
C |
13: 113,967,783 (GRCm38) |
V132A |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,098,137 (GRCm38) |
|
probably benign |
Het |
| Atrip |
T |
A |
9: 109,072,659 (GRCm38) |
D110V |
probably damaging |
Het |
| Bahcc1 |
T |
G |
11: 120,282,239 (GRCm38) |
|
probably benign |
Het |
| Cd53 |
C |
T |
3: 106,768,959 (GRCm38) |
G31S |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,888,927 (GRCm38) |
S404G |
possibly damaging |
Het |
| Cers3 |
A |
T |
7: 66,783,404 (GRCm38) |
K156N |
probably damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,504,153 (GRCm38) |
L448M |
probably damaging |
Het |
| Cox15 |
G |
T |
19: 43,746,905 (GRCm38) |
T141K |
probably damaging |
Het |
| Csnk2a2 |
C |
T |
8: 95,457,375 (GRCm38) |
|
probably benign |
Het |
| Cyp2b10 |
A |
T |
7: 25,925,388 (GRCm38) |
|
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,011,090 (GRCm38) |
Y80C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,526,691 (GRCm38) |
Y693C |
possibly damaging |
Het |
| Des |
T |
C |
1: 75,363,477 (GRCm38) |
S343P |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,249,863 (GRCm38) |
|
probably benign |
Het |
| Eif3m |
T |
A |
2: 105,006,777 (GRCm38) |
Q199L |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,600,674 (GRCm38) |
T802K |
probably damaging |
Het |
| Endov |
A |
G |
11: 119,491,825 (GRCm38) |
T33A |
probably damaging |
Het |
| Epb41l5 |
G |
A |
1: 119,549,166 (GRCm38) |
T728I |
probably damaging |
Het |
| Fbxo39 |
A |
G |
11: 72,318,402 (GRCm38) |
I363V |
probably benign |
Het |
| Gm8674 |
C |
T |
13: 49,900,517 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9733 |
G |
T |
3: 15,332,152 (GRCm38) |
T24K |
unknown |
Het |
| Il6st |
T |
A |
13: 112,481,464 (GRCm38) |
N137K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,601,344 (GRCm38) |
N136S |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,491,559 (GRCm38) |
I376N |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,354,793 (GRCm38) |
|
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,781,924 (GRCm38) |
H71Q |
probably damaging |
Het |
| Lgals8 |
G |
T |
13: 12,453,327 (GRCm38) |
Y140* |
probably null |
Het |
| Macf1 |
T |
A |
4: 123,493,998 (GRCm38) |
I924L |
probably benign |
Het |
| Mcoln2 |
A |
T |
3: 146,181,814 (GRCm38) |
T329S |
possibly damaging |
Het |
| Mex3d |
A |
T |
10: 80,381,520 (GRCm38) |
L621Q |
probably damaging |
Het |
| Mut |
A |
G |
17: 40,937,468 (GRCm38) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,334,631 (GRCm38) |
H1038R |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,271,297 (GRCm38) |
|
probably null |
Het |
| Ngrn |
A |
G |
7: 80,264,772 (GRCm38) |
T224A |
probably benign |
Het |
| Nin |
G |
A |
12: 70,017,650 (GRCm38) |
R2019* |
probably null |
Het |
| Olfr1047 |
T |
A |
2: 86,228,455 (GRCm38) |
N172I |
probably damaging |
Het |
| Olfr1166 |
C |
T |
2: 88,124,311 (GRCm38) |
V225I |
probably benign |
Het |
| Olfr140 |
C |
T |
2: 90,051,671 (GRCm38) |
V218I |
possibly damaging |
Het |
| Olfr373 |
C |
T |
8: 72,100,176 (GRCm38) |
Q139* |
probably null |
Het |
| Olfr70 |
C |
T |
4: 43,696,823 (GRCm38) |
V117M |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,724,102 (GRCm38) |
V1164L |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,301,067 (GRCm38) |
|
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,207,929 (GRCm38) |
L381F |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,469,536 (GRCm38) |
|
probably benign |
Het |
| Prim2 |
T |
A |
1: 33,630,404 (GRCm38) |
E163D |
probably benign |
Het |
| Prrc2b |
A |
T |
2: 32,194,985 (GRCm38) |
D296V |
probably damaging |
Het |
| Pter |
A |
G |
2: 12,978,621 (GRCm38) |
|
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,961,910 (GRCm38) |
V662L |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,672,200 (GRCm38) |
I424F |
probably benign |
Het |
| Snx29 |
A |
T |
16: 11,631,471 (GRCm38) |
H260L |
probably damaging |
Het |
| Stil |
A |
G |
4: 115,039,195 (GRCm38) |
N959S |
probably benign |
Het |
| Taar8c |
A |
T |
10: 24,101,610 (GRCm38) |
D101E |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Trpc6 |
G |
A |
9: 8,653,147 (GRCm38) |
M573I |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,899,599 (GRCm38) |
D171V |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,371,169 (GRCm38) |
T348A |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 13,084,881 (GRCm38) |
I112N |
probably damaging |
Het |
| Vps36 |
A |
G |
8: 22,218,210 (GRCm38) |
|
probably null |
Het |
| Wdfy3 |
G |
A |
5: 101,937,738 (GRCm38) |
A630V |
possibly damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,876,800 (GRCm38) |
D14E |
probably null |
Het |
| Ylpm1 |
T |
C |
12: 85,030,383 (GRCm38) |
I1294T |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,955,075 (GRCm38) |
F378L |
probably benign |
Het |
|
| Other mutations in Nphp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Nphp4
|
APN |
4 |
152,537,309 (GRCm38) |
splice site |
probably benign |
|
|
IGL00963:Nphp4
|
APN |
4 |
152,537,861 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01571:Nphp4
|
APN |
4 |
152,556,382 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL01707:Nphp4
|
APN |
4 |
152,538,983 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01837:Nphp4
|
APN |
4 |
152,488,881 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02341:Nphp4
|
APN |
4 |
152,555,469 (GRCm38) |
splice site |
probably benign |
|
|
IGL02558:Nphp4
|
APN |
4 |
152,555,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02563:Nphp4
|
APN |
4 |
152,556,220 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02712:Nphp4
|
APN |
4 |
152,556,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03023:Nphp4
|
APN |
4 |
152,524,235 (GRCm38) |
splice site |
probably null |
|
|
R0280:Nphp4
|
UTSW |
4 |
152,551,936 (GRCm38) |
splice site |
probably benign |
|
|
R0317:Nphp4
|
UTSW |
4 |
152,551,931 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0410:Nphp4
|
UTSW |
4 |
152,557,046 (GRCm38) |
missense |
probably benign |
|
|
R0433:Nphp4
|
UTSW |
4 |
152,518,172 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0706:Nphp4
|
UTSW |
4 |
152,555,617 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0785:Nphp4
|
UTSW |
4 |
152,562,109 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0890:Nphp4
|
UTSW |
4 |
152,498,220 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0930:Nphp4
|
UTSW |
4 |
152,538,055 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1202:Nphp4
|
UTSW |
4 |
152,488,729 (GRCm38) |
splice site |
probably null |
|
|
R1203:Nphp4
|
UTSW |
4 |
152,488,832 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1366:Nphp4
|
UTSW |
4 |
152,502,926 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1598:Nphp4
|
UTSW |
4 |
152,562,090 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1699:Nphp4
|
UTSW |
4 |
152,496,664 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2007:Nphp4
|
UTSW |
4 |
152,554,654 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2082:Nphp4
|
UTSW |
4 |
152,559,364 (GRCm38) |
missense |
probably benign |
0.38 |
|
R2264:Nphp4
|
UTSW |
4 |
152,503,008 (GRCm38) |
splice site |
probably benign |
|
|
R2280:Nphp4
|
UTSW |
4 |
152,557,043 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2281:Nphp4
|
UTSW |
4 |
152,557,043 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2926:Nphp4
|
UTSW |
4 |
152,518,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3764:Nphp4
|
UTSW |
4 |
152,538,017 (GRCm38) |
splice site |
probably benign |
|
|
R4084:Nphp4
|
UTSW |
4 |
152,488,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4091:Nphp4
|
UTSW |
4 |
152,547,018 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4240:Nphp4
|
UTSW |
4 |
152,555,684 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4701:Nphp4
|
UTSW |
4 |
152,496,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4778:Nphp4
|
UTSW |
4 |
152,556,291 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4783:Nphp4
|
UTSW |
4 |
152,554,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4784:Nphp4
|
UTSW |
4 |
152,554,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4974:Nphp4
|
UTSW |
4 |
152,537,793 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5053:Nphp4
|
UTSW |
4 |
152,544,462 (GRCm38) |
splice site |
probably null |
|
|
R5117:Nphp4
|
UTSW |
4 |
152,524,232 (GRCm38) |
splice site |
probably null |
|
|
R5128:Nphp4
|
UTSW |
4 |
152,502,991 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5665:Nphp4
|
UTSW |
4 |
152,506,485 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5890:Nphp4
|
UTSW |
4 |
152,547,079 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6171:Nphp4
|
UTSW |
4 |
152,544,449 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6601:Nphp4
|
UTSW |
4 |
152,503,007 (GRCm38) |
splice site |
probably null |
|
|
R6772:Nphp4
|
UTSW |
4 |
152,544,406 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6806:Nphp4
|
UTSW |
4 |
152,538,101 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7006:Nphp4
|
UTSW |
4 |
152,488,802 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7124:Nphp4
|
UTSW |
4 |
152,555,684 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7381:Nphp4
|
UTSW |
4 |
152,499,003 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7411:Nphp4
|
UTSW |
4 |
152,554,717 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7638:Nphp4
|
UTSW |
4 |
152,554,534 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7814:Nphp4
|
UTSW |
4 |
152,544,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7814:Nphp4
|
UTSW |
4 |
152,524,272 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7841:Nphp4
|
UTSW |
4 |
152,496,683 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8346:Nphp4
|
UTSW |
4 |
152,561,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8479:Nphp4
|
UTSW |
4 |
152,524,290 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8847:Nphp4
|
UTSW |
4 |
152,506,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8995:Nphp4
|
UTSW |
4 |
152,538,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8997:Nphp4
|
UTSW |
4 |
152,538,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9075:Nphp4
|
UTSW |
4 |
152,507,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9089:Nphp4
|
UTSW |
4 |
152,561,216 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9191:Nphp4
|
UTSW |
4 |
152,556,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9274:Nphp4
|
UTSW |
4 |
152,555,599 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9311:Nphp4
|
UTSW |
4 |
152,524,257 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9383:Nphp4
|
UTSW |
4 |
152,544,461 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9628:Nphp4
|
UTSW |
4 |
152,484,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9711:Nphp4
|
UTSW |
4 |
152,538,977 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9712:Nphp4
|
UTSW |
4 |
152,547,064 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9752:Nphp4
|
UTSW |
4 |
152,537,280 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9790:Nphp4
|
UTSW |
4 |
152,562,148 (GRCm38) |
missense |
probably null |
0.64 |
|
R9791:Nphp4
|
UTSW |
4 |
152,562,148 (GRCm38) |
missense |
probably null |
0.64 |
|
T0970:Nphp4
|
UTSW |
4 |
152,556,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0058:Nphp4
|
UTSW |
4 |
152,559,707 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1177:Nphp4
|
UTSW |
4 |
152,518,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGTGCCACCCAGTGTTTATTC -3'
(R):5'- TTCCAAGCTCCTGTCAGGACAGTG -3'
Sequencing Primer
(F):5'- GTGACAGCTCTGTCCCTGATG -3'
(R):5'- ACCGTGTTGGTTTCCTACAAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation