Mutagenetix > Incidental Mutation

Incidental Mutation 'R5476:Prr14l'

434073

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

043037-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R5476 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 32844138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000130134]

AlphaFold

E9Q7C4

Predicted Effect

unknown
Transcript: ENSMUST00000120129
AA Change: D126G

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: D126G

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

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.5%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	T	G	7: 45,142,069	N71H	possibly damaging	Het
Alg5	T	A	3: 54,746,598	S252T	probably benign	Het
Arhgap21	T	C	2: 20,880,686	N560S	probably benign	Het
Ccdc96	A	G	5: 36,485,637	D329G	possibly damaging	Het
Cep128	T	C	12: 91,213,618	E917G	probably damaging	Het
Cpox	G	C	16: 58,678,725	V434L	probably damaging	Het
D5Ertd579e	G	T	5: 36,615,257	S598Y	probably damaging	Het
Ddx6	A	G	9: 44,607,456	R22G	possibly damaging	Het
Dgcr8	A	T	16: 18,259,979	Y597N	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dock5	T	C	14: 67,814,007	D671G	possibly damaging	Het
Dock6	A	G	9: 21,809,589	S1707P	probably damaging	Het
Dopey2	A	G	16: 93,773,913		probably null	Het
Faim	A	G	9: 98,992,729	R110G	probably damaging	Het
Grm4	A	G	17: 27,434,798	V726A	probably benign	Het
Hps1	T	C	19: 42,769,602		probably null	Het
Lefty1	T	C	1: 180,937,698	M277T	probably benign	Het
Mmp9	A	G	2: 164,952,494	M469V	probably benign	Het
Mroh4	A	T	15: 74,611,661	I609N	probably benign	Het
Myl6b	C	T	10: 128,497,347		probably benign	Het
Nt5m	A	G	11: 59,875,907	D208G	probably damaging	Het
Pard3b	G	T	1: 62,010,406	V108L	probably benign	Het
Pbp2	A	G	6: 135,309,924	S142P	probably benign	Het
Pbrm1	T	A	14: 31,032,519	D165E	probably benign	Het
Pde4b	A	G	4: 102,602,699	K577R	probably benign	Het
Phf21b	A	G	15: 84,787,265	M476T	probably benign	Het
Ralgapa2	A	G	2: 146,447,436	V282A	probably benign	Het
Rif1	A	G	2: 52,089,595	I430V	probably damaging	Het
Slc25a12	A	G	2: 71,275,322	S623P	probably benign	Het
Smc1b	A	T	15: 85,086,151	I967N	probably damaging	Het
Snx13	A	G	12: 35,106,820		probably null	Het
Spata2	A	T	2: 167,484,159	S247T	probably damaging	Het
Stpg2	T	A	3: 139,243,138	Y232N	probably benign	Het
Tor3a	G	T	1: 156,673,567	S100R	possibly damaging	Het
Trappc8	A	G	18: 20,865,108	F385S	probably damaging	Het
Uggt2	T	A	14: 119,090,709	T134S	probably benign	Het
Vmn1r175	C	T	7: 23,809,131	V24I	possibly damaging	Het
Wdr1	C	T	5: 38,529,588	G278S	probably damaging	Het
Zfp157	T	G	5: 138,457,181	V547G	possibly damaging	Het
Zfp442	A	T	2: 150,408,159	C551S	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATATGCTACCCGTCCACAGC -3'
(R):5'- TCTCCTCTAAGTCATGGCAGGG -3'

Sequencing Primer
(F):5'- CAGCATCTGTGATTTACATTAGAGGC -3'
(R):5'- GGGTTGCAGAGGACTCATGC -3'

Posted On

2016-10-06