Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Prr14l'

306799

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 #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32830676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 492 (I492V)

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: I492V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: I492V

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02836:Prr14l	APN	5	32831096	missense	probably benign	0.42
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

2015-04-16