Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Prr14l'

361633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32831096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 352 (K352E)

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: K352E

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: K352E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,623,212	N346K	possibly damaging	Het
Abca15	A	G	7: 120,388,216	M1242V	probably benign	Het
Abca6	T	A	11: 110,248,548	E33D	probably damaging	Het
Abca8a	T	C	11: 110,070,351	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,178,002	L263P	probably damaging	Het
Adamts2	A	C	11: 50,787,279	E795A	probably damaging	Het
Avil	T	A	10: 127,008,995	I292N	probably damaging	Het
Ccdc129	T	A	6: 55,898,090	W342R	probably damaging	Het
Cd300ld2	T	C	11: 115,013,750	D97G	probably benign	Het
Cfh	A	C	1: 140,102,399	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,687,156	Q156L	probably benign	Het
Dhx57	T	C	17: 80,267,549	I614V	probably damaging	Het
Dip2c	T	A	13: 9,610,790	S896T	probably damaging	Het
Dmtn	G	T	14: 70,616,078	P97Q	probably damaging	Het
Dock6	A	T	9: 21,801,864	V1931E	probably damaging	Het
Dpep2	C	A	8: 105,990,595		probably null	Het
Dsg1c	T	A	18: 20,267,929	L163Q	probably benign	Het
Esyt3	A	G	9: 99,320,907		probably benign	Het
Fcgbp	T	A	7: 28,117,358	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,183,045	D18G	probably benign	Het
Fras1	T	C	5: 96,534,866	V74A	possibly damaging	Het
Frem3	T	C	8: 80,614,381	V1101A	probably benign	Het
Fut8	T	A	12: 77,450,213	V399E	probably benign	Het
Galntl5	G	T	5: 25,186,239	K45N	probably benign	Het
Gbe1	A	G	16: 70,561,095	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,330,129	I77M	probably benign	Het
Mark2	A	G	19: 7,278,040		probably null	Het
Muc2	A	T	7: 141,746,713		probably benign	Het
Nacc2	C	T	2: 26,090,317	V36I	probably damaging	Het
Nphp1	T	C	2: 127,769,623	I268V	probably benign	Het
Olfr1154	T	G	2: 87,903,380	T99P	possibly damaging	Het
Oosp3	A	G	19: 11,700,968	I5V	probably benign	Het
Pex7	A	G	10: 19,894,244		probably benign	Het
Rheb	T	A	5: 24,803,711	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,145,257		probably null	Het
Rps2	T	A	17: 24,720,676	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,405,040		probably benign	Het
Rtcb	A	T	10: 85,943,942	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,070,084	F174L	probably benign	Het
Slc28a1	G	A	7: 81,126,161	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,531,717	C32S	probably damaging	Het
Syne1	G	A	10: 5,409,875		probably benign	Het
Synrg	C	A	11: 84,001,978		probably benign	Het
Tmem219	A	T	7: 126,888,949	F265I	probably benign	Het
Tmem94	T	C	11: 115,792,939	I726T	probably damaging	Het
Trim37	T	C	11: 87,196,959	M632T	probably benign	Het
Trpm6	A	T	19: 18,813,482	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,979,777	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,251,594	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427		probably benign	Het
Zmiz1	T	A	14: 25,656,742		probably benign	Het
Zranb3	A	G	1: 127,960,825	V841A	probably benign	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32830676	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32831066	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32828806	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32831845	unclassified	probably benign
IGL01929:Prr14l	APN	5	32828243	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32830205	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32827532	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32827807	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32830942	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32831484	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32829484	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32830543	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32828182	missense	possibly damaging	0.94
IGL02952:Prr14l	APN	5	32835670	missense	unknown
IGL03034:Prr14l	APN	5	32827438	missense	possibly damaging	0.48
Polymer	UTSW	5	32827145	missense	probably benign	0.34
Postwar	UTSW	5	32830684	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32793728	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32831559	unclassified	probably benign
R0149:Prr14l	UTSW	5	32793641	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32827993	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32793641	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32828717	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32829880	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	32844216	intron	probably benign
R0639:Prr14l	UTSW	5	32828915	missense	probably benign	0.02
R0673:Prr14l	UTSW	5	32828915	missense	probably benign	0.02
R0743:Prr14l	UTSW	5	32831194	missense	possibly damaging	0.55
R0792:Prr14l	UTSW	5	32828423	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32829482	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32830260	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32828833	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32827949	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32830282	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	32844469	intron	probably benign
R2129:Prr14l	UTSW	5	32831828	unclassified	probably benign
R2150:Prr14l	UTSW	5	32830702	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32830078	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32829768	missense	probably benign	0.04
R3551:Prr14l	UTSW	5	32828619	splice site	probably null
R3820:Prr14l	UTSW	5	32828984	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32830345	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32828003	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32828576	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32829254	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32793644	missense	probably damaging	1.00
R4596:Prr14l	UTSW	5	32829308	missense	probably benign	0.01
R4690:Prr14l	UTSW	5	32844156	intron	probably benign
R4824:Prr14l	UTSW	5	32844399	intron	probably benign
R4868:Prr14l	UTSW	5	32829937	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32828833	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32830247	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32830021	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32827777	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	32844138	intron	probably benign
R5623:Prr14l	UTSW	5	32844508	intron	probably benign
R5730:Prr14l	UTSW	5	32793603	missense	probably damaging	1.00
R5988:Prr14l	UTSW	5	32830851	missense	probably damaging	0.98
R6261:Prr14l	UTSW	5	32829404	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32830264	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32827525	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32828548	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32827759	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32830867	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32830691	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32829427	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32829166	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32827145	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32830087	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32831101	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32830684	missense	probably benign	0.17
R7395:Prr14l	UTSW	5	32828638	missense	probably benign	0.00
R7624:Prr14l	UTSW	5	32829623	missense	possibly damaging	0.54
R7649:Prr14l	UTSW	5	32828245	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32827253	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	32844391	intron	probably benign
R7898:Prr14l	UTSW	5	32829966	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32831164	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32830134	nonsense	probably null
R9136:Prr14l	UTSW	5	32828736	missense
R9682:Prr14l	UTSW	5	32830679	missense	probably benign	0.02

Posted On

2015-12-18