Mutagenetix > Incidental Mutations

Incidental Mutation 'R5623:Prr14l'

441674

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

043162-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 32844508 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: S3T

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: S3T

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

Meta Mutation Damage Score

0.0783

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b1	T	G	18: 64,546,094	Q772P	possibly damaging	Het
B3gnt2	C	G	11: 22,837,018	A57P	probably damaging	Het
BC067074	T	C	13: 113,346,634	I1590T	possibly damaging	Het
Birc6	T	G	17: 74,528,656	D63E	probably damaging	Het
Ccdc13	T	C	9: 121,833,733	E72G	probably damaging	Het
Cfap221	C	T	1: 119,954,168	A297T	probably benign	Het
Chd1	T	A	17: 15,754,932	N1081K	probably damaging	Het
Chrm3	C	A	13: 9,877,387	V538L	possibly damaging	Het
Clec16a	T	A	16: 10,611,121	N37K	probably benign	Het
Cnksr3	T	A	10: 7,120,548	I229F	probably damaging	Het
Dchs1	T	C	7: 105,772,769	E148G	probably damaging	Het
Diaph1	A	T	18: 37,896,093		probably benign	Het
Dis3l	A	G	9: 64,307,603	F895L	possibly damaging	Het
Dnah1	G	T	14: 31,286,023	D2142E	possibly damaging	Het
Dst	T	C	1: 34,190,133	V1944A	possibly damaging	Het
Eif4a2	C	T	16: 23,110,219		probably benign	Het
Ephb6	T	A	6: 41,616,481	M487K	probably benign	Het
Fgf18	T	G	11: 33,134,272	T61P	probably damaging	Het
G6pc2	A	G	2: 69,226,583	E191G	probably damaging	Het
Gm10717	C	T	9: 3,026,318	S55L	probably benign	Het
Gm5414	A	G	15: 101,625,811	F286S	probably damaging	Het
Gpcpd1	G	T	2: 132,534,717	A553E	probably damaging	Het
Gpr153	A	G	4: 152,281,941	D321G	possibly damaging	Het
Hecw2	T	A	1: 53,832,623	Q1388L	probably null	Het
Ighv14-3	A	C	12: 114,060,090	S36A	probably damaging	Het
Inpp5j	C	A	11: 3,494,766	G969V	probably damaging	Het
Kat5	G	A	19: 5,607,562	R307W	probably damaging	Het
Klk1b21	A	G	7: 44,105,565	S95G	probably damaging	Het
Mdm1	G	A	10: 118,150,789	V171I	possibly damaging	Het
Nfu1	TCGC	T	6: 87,016,206		probably benign	Het
Olfr175-ps1	C	T	16: 58,824,343	R122H	probably benign	Het
Olfr776	G	A	10: 129,261,032	V24M	probably benign	Het
Phkb	T	A	8: 85,843,048		probably benign	Het
Pkd1l3	A	T	8: 109,623,719	T399S	possibly damaging	Het
Psg21	A	C	7: 18,655,014	L51R	probably damaging	Het
Ptprg	T	A	14: 12,153,857	I526N	probably damaging	Het
Rab1a	T	C	11: 20,201,626		probably benign	Het
Rims2	A	T	15: 39,478,615	Q620L	probably damaging	Het
Rnf215	T	G	11: 4,135,453	S58A	probably benign	Het
Scaper	A	C	9: 55,864,507	V375G	probably benign	Het
Sgk3	A	T	1: 9,802,295		probably benign	Het
Skiv2l	T	C	17: 34,847,432	K192E	probably benign	Het
Slc34a3	T	A	2: 25,233,300		probably null	Het
Sspn	T	A	6: 145,961,226	C52S	probably damaging	Het
Strip1	T	C	3: 107,626,826	E164G	possibly damaging	Het
Sult5a1	A	C	8: 123,157,442	S47A	probably damaging	Het
Svep1	T	C	4: 58,091,964	D1557G	possibly damaging	Het
Tdrd6	T	C	17: 43,629,333	I275V	probably damaging	Het
Thada	C	T	17: 84,191,983	V1929I	probably benign	Het
Tmem132b	G	A	5: 125,623,352	R318Q	probably damaging	Het
Tmem176b	T	G	6: 48,834,070	I259L	probably benign	Het
Tmppe	C	A	9: 114,405,896	P421Q	possibly damaging	Het
Tmprss11e	G	A	5: 86,709,456	Q333*	probably null	Het
Tpcn2	T	A	7: 145,267,334	R328W	possibly damaging	Het
Trem1	C	T	17: 48,237,055	T36I	probably damaging	Het
Trpm2	C	A	10: 77,932,139	R842L	probably damaging	Het
Zfp319	A	G	8: 95,325,571		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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCATGACTTAGAGGAGAGC -3'
(R):5'- GGTGTCCAATAATGCTGACATTTGAAG -3'

Sequencing Primer
(F):5'- CCATGACTTAGAGGAGAGCGTGAG -3'
(R):5'- CCTACCGGGTGCTAGTATTAAAG -3'

Posted On

2016-11-08