Incidental Mutation 'R7346:Prr14l'
ID |
570193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr14l
|
Ensembl Gene |
ENSMUSG00000054280 |
Gene Name |
proline rich 14-like |
Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
MMRRC Submission |
045373-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R7346 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32988028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 489
(D489G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000130134]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
AlphaFold |
E9Q7C4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120129
AA Change: D489G
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113259 Gene: ENSMUSG00000054280 AA Change: D489G
Domain | Start | End | E-Value | Type |
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
low complexity region
|
1433 |
1446 |
N/A |
INTRINSIC |
low complexity region
|
1471 |
1480 |
N/A |
INTRINSIC |
Pfam:Tantalus
|
1838 |
1895 |
2.9e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130134
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144673
|
SMART Domains |
Protein: ENSMUSP00000124923 Gene: ENSMUSG00000093574
Domain | Start | End | E-Value | Type |
Pfam:Tantalus
|
158 |
193 |
1.2e-15 |
PFAM |
Pfam:PS_Dcarbxylase
|
332 |
575 |
2.1e-71 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155392
|
SMART Domains |
Protein: ENSMUSP00000119569 Gene: ENSMUSG00000054280
Domain | Start | End | E-Value | Type |
low complexity region
|
276 |
289 |
N/A |
INTRINSIC |
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1722 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.1%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,914,587 (GRCm39) |
P52S |
unknown |
Het |
Adarb2 |
A |
G |
13: 8,620,420 (GRCm39) |
E302G |
probably damaging |
Het |
Adgrf5 |
T |
A |
17: 43,762,070 (GRCm39) |
L1255H |
probably damaging |
Het |
Adra1a |
T |
A |
14: 66,875,733 (GRCm39) |
I236N |
probably benign |
Het |
As3mt |
T |
C |
19: 46,708,891 (GRCm39) |
F295S |
probably damaging |
Het |
Bmp5 |
G |
A |
9: 75,780,642 (GRCm39) |
R313Q |
probably damaging |
Het |
Ccnj |
T |
A |
19: 40,833,394 (GRCm39) |
S191T |
probably benign |
Het |
Clk2 |
T |
A |
3: 89,080,852 (GRCm39) |
|
probably null |
Het |
Cpz |
T |
C |
5: 35,675,000 (GRCm39) |
E83G |
probably damaging |
Het |
Cts3 |
A |
G |
13: 61,715,434 (GRCm39) |
I133T |
probably benign |
Het |
Dars2 |
C |
T |
1: 160,874,342 (GRCm39) |
|
probably null |
Het |
Dsel |
A |
T |
1: 111,788,798 (GRCm39) |
V579D |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,602,076 (GRCm39) |
A2038E |
probably damaging |
Het |
Eaf1 |
A |
G |
14: 31,216,777 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
C |
2: 82,828,524 (GRCm39) |
I6774L |
probably benign |
Het |
Glis2 |
T |
C |
16: 4,431,432 (GRCm39) |
F320L |
possibly damaging |
Het |
Hcar1 |
A |
G |
5: 124,017,693 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,797,104 (GRCm39) |
H2211Q |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,559,496 (GRCm39) |
I2385T |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,438,094 (GRCm39) |
M398L |
probably benign |
Het |
Il16 |
C |
T |
7: 83,293,249 (GRCm39) |
E1273K |
probably damaging |
Het |
Inpp5j |
G |
A |
11: 3,451,065 (GRCm39) |
T528I |
probably damaging |
Het |
Kbtbd6 |
C |
T |
14: 79,690,627 (GRCm39) |
P441S |
probably damaging |
Het |
Kcnt1 |
C |
T |
2: 25,753,855 (GRCm39) |
|
probably benign |
Het |
Kif26b |
T |
C |
1: 178,358,306 (GRCm39) |
L139P |
probably damaging |
Het |
Klb |
C |
T |
5: 65,505,974 (GRCm39) |
Q74* |
probably null |
Het |
L3mbtl1 |
G |
A |
2: 162,808,926 (GRCm39) |
V600I |
probably benign |
Het |
Lcp1 |
C |
T |
14: 75,447,946 (GRCm39) |
A317V |
possibly damaging |
Het |
Lipc |
C |
T |
9: 70,720,029 (GRCm39) |
G326D |
probably damaging |
Het |
Mbnl2 |
T |
A |
14: 120,616,694 (GRCm39) |
F103I |
probably benign |
Het |
Mdm1 |
G |
T |
10: 118,000,193 (GRCm39) |
E609* |
probably null |
Het |
Med16 |
A |
G |
10: 79,744,650 (GRCm39) |
|
probably null |
Het |
Mga |
T |
C |
2: 119,766,008 (GRCm39) |
V1424A |
possibly damaging |
Het |
Mocs2 |
G |
T |
13: 114,964,710 (GRCm39) |
|
probably null |
Het |
Morc1 |
C |
T |
16: 48,451,263 (GRCm39) |
|
probably null |
Het |
Mpc2 |
T |
A |
1: 165,307,080 (GRCm39) |
W94R |
probably damaging |
Het |
Mrm3 |
G |
A |
11: 76,141,002 (GRCm39) |
V337I |
possibly damaging |
Het |
N4bp3 |
T |
C |
11: 51,536,433 (GRCm39) |
H133R |
probably benign |
Het |
Ncam2 |
G |
T |
16: 81,420,256 (GRCm39) |
G810V |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,373,090 (GRCm39) |
E1052G |
possibly damaging |
Het |
Nlrp12 |
C |
T |
7: 3,297,887 (GRCm39) |
V95M |
probably damaging |
Het |
Nrip1 |
T |
C |
16: 76,090,244 (GRCm39) |
N438D |
possibly damaging |
Het |
Nsun4 |
C |
A |
4: 115,909,035 (GRCm39) |
M508I |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,461,650 (GRCm39) |
S40P |
probably damaging |
Het |
Plec |
A |
G |
15: 76,082,178 (GRCm39) |
|
probably null |
Het |
Ppfia2 |
G |
T |
10: 106,693,356 (GRCm39) |
M620I |
possibly damaging |
Het |
Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,695,617 (GRCm39) |
I47N |
possibly damaging |
Het |
Ptch2 |
T |
A |
4: 116,971,849 (GRCm39) |
Y1124N |
probably benign |
Het |
Ptpra |
T |
G |
2: 130,395,320 (GRCm39) |
Y808D |
probably damaging |
Het |
Rint1 |
T |
A |
5: 24,020,651 (GRCm39) |
F558Y |
possibly damaging |
Het |
Rnf215 |
T |
A |
11: 4,089,792 (GRCm39) |
C268* |
probably null |
Het |
Slc25a13 |
T |
C |
6: 6,181,100 (GRCm39) |
E28G |
possibly damaging |
Het |
Slc38a8 |
G |
T |
8: 120,226,554 (GRCm39) |
Y78* |
probably null |
Het |
Slc4a7 |
T |
C |
14: 14,775,000 (GRCm38) |
M810T |
probably damaging |
Het |
Slitrk1 |
A |
G |
14: 109,150,591 (GRCm39) |
V40A |
possibly damaging |
Het |
Sobp |
A |
T |
10: 42,898,831 (GRCm39) |
S251R |
probably damaging |
Het |
Spata31d1a |
G |
A |
13: 59,851,015 (GRCm39) |
S371L |
probably benign |
Het |
Tada2b |
T |
C |
5: 36,634,180 (GRCm39) |
T133A |
possibly damaging |
Het |
Tbc1d20 |
A |
G |
2: 152,146,881 (GRCm39) |
D90G |
probably benign |
Het |
Tek |
T |
A |
4: 94,715,533 (GRCm39) |
I408K |
probably benign |
Het |
Tgfb2 |
A |
G |
1: 186,382,077 (GRCm39) |
F150S |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,977,517 (GRCm39) |
T370A |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Tspan17 |
C |
G |
13: 54,940,434 (GRCm39) |
L34V |
probably benign |
Het |
Vmn1r238 |
A |
T |
18: 3,123,151 (GRCm39) |
Y88N |
probably damaging |
Het |
Vmn1r85 |
A |
G |
7: 12,818,964 (GRCm39) |
I60T |
probably damaging |
Het |
Vmn2r96 |
T |
C |
17: 18,803,029 (GRCm39) |
M313T |
probably benign |
Het |
Zp3r |
G |
A |
1: 130,511,217 (GRCm39) |
S387F |
probably benign |
Het |
|
Other mutations in Prr14l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Prr14l
|
APN |
5 |
32,988,020 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00331:Prr14l
|
APN |
5 |
32,988,410 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01571:Prr14l
|
APN |
5 |
32,986,150 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01795:Prr14l
|
APN |
5 |
32,989,189 (GRCm39) |
unclassified |
probably benign |
|
IGL01929:Prr14l
|
APN |
5 |
32,985,587 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01959:Prr14l
|
APN |
5 |
32,987,549 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02139:Prr14l
|
APN |
5 |
32,984,876 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02321:Prr14l
|
APN |
5 |
32,985,151 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02508:Prr14l
|
APN |
5 |
32,988,286 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02551:Prr14l
|
APN |
5 |
32,988,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02585:Prr14l
|
APN |
5 |
32,986,828 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02614:Prr14l
|
APN |
5 |
32,987,887 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02808:Prr14l
|
APN |
5 |
32,985,526 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02836:Prr14l
|
APN |
5 |
32,988,440 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02952:Prr14l
|
APN |
5 |
32,993,014 (GRCm39) |
missense |
unknown |
|
IGL03034:Prr14l
|
APN |
5 |
32,984,782 (GRCm39) |
missense |
possibly damaging |
0.48 |
Polymer
|
UTSW |
5 |
32,984,489 (GRCm39) |
missense |
probably benign |
0.34 |
Postwar
|
UTSW |
5 |
32,988,028 (GRCm39) |
missense |
probably benign |
0.17 |
H8562:Prr14l
|
UTSW |
5 |
32,951,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R0086:Prr14l
|
UTSW |
5 |
32,988,903 (GRCm39) |
unclassified |
probably benign |
|
R0149:Prr14l
|
UTSW |
5 |
32,950,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0333:Prr14l
|
UTSW |
5 |
32,985,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:Prr14l
|
UTSW |
5 |
32,950,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0416:Prr14l
|
UTSW |
5 |
32,986,061 (GRCm39) |
missense |
probably benign |
0.25 |
R0480:Prr14l
|
UTSW |
5 |
32,987,224 (GRCm39) |
missense |
probably benign |
0.02 |
R0511:Prr14l
|
UTSW |
5 |
33,001,560 (GRCm39) |
intron |
probably benign |
|
R0639:Prr14l
|
UTSW |
5 |
32,986,259 (GRCm39) |
missense |
probably benign |
0.02 |
R0673:Prr14l
|
UTSW |
5 |
32,986,259 (GRCm39) |
missense |
probably benign |
0.02 |
R0743:Prr14l
|
UTSW |
5 |
32,988,538 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0792:Prr14l
|
UTSW |
5 |
32,985,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1006:Prr14l
|
UTSW |
5 |
32,986,826 (GRCm39) |
missense |
probably benign |
0.00 |
R1342:Prr14l
|
UTSW |
5 |
32,987,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Prr14l
|
UTSW |
5 |
32,986,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R1527:Prr14l
|
UTSW |
5 |
32,985,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1704:Prr14l
|
UTSW |
5 |
32,987,626 (GRCm39) |
missense |
probably benign |
0.01 |
R1967:Prr14l
|
UTSW |
5 |
33,001,813 (GRCm39) |
intron |
probably benign |
|
R2129:Prr14l
|
UTSW |
5 |
32,989,172 (GRCm39) |
unclassified |
probably benign |
|
R2150:Prr14l
|
UTSW |
5 |
32,988,046 (GRCm39) |
missense |
probably benign |
0.14 |
R2318:Prr14l
|
UTSW |
5 |
32,987,422 (GRCm39) |
missense |
probably benign |
0.04 |
R2915:Prr14l
|
UTSW |
5 |
32,987,112 (GRCm39) |
missense |
probably benign |
0.04 |
R3551:Prr14l
|
UTSW |
5 |
32,985,963 (GRCm39) |
splice site |
probably null |
|
R3820:Prr14l
|
UTSW |
5 |
32,986,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R3852:Prr14l
|
UTSW |
5 |
32,987,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R4126:Prr14l
|
UTSW |
5 |
32,985,347 (GRCm39) |
missense |
probably damaging |
0.97 |
R4345:Prr14l
|
UTSW |
5 |
32,985,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R4388:Prr14l
|
UTSW |
5 |
32,986,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Prr14l
|
UTSW |
5 |
32,950,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4596:Prr14l
|
UTSW |
5 |
32,986,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4690:Prr14l
|
UTSW |
5 |
33,001,500 (GRCm39) |
intron |
probably benign |
|
R4824:Prr14l
|
UTSW |
5 |
33,001,743 (GRCm39) |
intron |
probably benign |
|
R4868:Prr14l
|
UTSW |
5 |
32,987,281 (GRCm39) |
missense |
probably benign |
0.04 |
R4869:Prr14l
|
UTSW |
5 |
32,986,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R5201:Prr14l
|
UTSW |
5 |
32,987,591 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5328:Prr14l
|
UTSW |
5 |
32,987,365 (GRCm39) |
missense |
probably benign |
0.00 |
R5410:Prr14l
|
UTSW |
5 |
32,985,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R5476:Prr14l
|
UTSW |
5 |
33,001,482 (GRCm39) |
intron |
probably benign |
|
R5623:Prr14l
|
UTSW |
5 |
33,001,852 (GRCm39) |
intron |
probably benign |
|
R5730:Prr14l
|
UTSW |
5 |
32,950,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Prr14l
|
UTSW |
5 |
32,988,195 (GRCm39) |
missense |
probably damaging |
0.98 |
R6261:Prr14l
|
UTSW |
5 |
32,986,748 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6283:Prr14l
|
UTSW |
5 |
32,987,608 (GRCm39) |
missense |
probably benign |
0.14 |
R6307:Prr14l
|
UTSW |
5 |
32,984,869 (GRCm39) |
missense |
probably damaging |
0.97 |
R6825:Prr14l
|
UTSW |
5 |
32,985,892 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6862:Prr14l
|
UTSW |
5 |
32,985,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R6880:Prr14l
|
UTSW |
5 |
32,988,211 (GRCm39) |
missense |
probably benign |
0.01 |
R6931:Prr14l
|
UTSW |
5 |
32,988,035 (GRCm39) |
missense |
probably damaging |
0.98 |
R7101:Prr14l
|
UTSW |
5 |
32,986,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Prr14l
|
UTSW |
5 |
32,986,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Prr14l
|
UTSW |
5 |
32,984,489 (GRCm39) |
missense |
probably benign |
0.34 |
R7211:Prr14l
|
UTSW |
5 |
32,987,431 (GRCm39) |
missense |
probably damaging |
0.98 |
R7305:Prr14l
|
UTSW |
5 |
32,988,445 (GRCm39) |
missense |
probably benign |
0.14 |
R7395:Prr14l
|
UTSW |
5 |
32,985,982 (GRCm39) |
missense |
probably benign |
0.00 |
R7624:Prr14l
|
UTSW |
5 |
32,986,967 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7649:Prr14l
|
UTSW |
5 |
32,985,589 (GRCm39) |
missense |
probably benign |
0.18 |
R7753:Prr14l
|
UTSW |
5 |
32,984,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R7828:Prr14l
|
UTSW |
5 |
33,001,735 (GRCm39) |
intron |
probably benign |
|
R7898:Prr14l
|
UTSW |
5 |
32,987,310 (GRCm39) |
missense |
probably benign |
0.04 |
R8071:Prr14l
|
UTSW |
5 |
32,988,508 (GRCm39) |
missense |
probably benign |
0.02 |
R9052:Prr14l
|
UTSW |
5 |
32,987,478 (GRCm39) |
nonsense |
probably null |
|
R9136:Prr14l
|
UTSW |
5 |
32,986,080 (GRCm39) |
missense |
|
|
R9682:Prr14l
|
UTSW |
5 |
32,988,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGGAATGGTTTGAGTATCAGG -3'
(R):5'- GTGACTCTCTGCCAAGTACAGCA -3'
Sequencing Primer
(F):5'- ACTCCATTCTCCAGAGAATG -3'
(R):5'- CTGTTTGAAAGAAAGCCTCC -3'
|
Posted On |
2019-09-13 |