Mutagenetix > Incidental Mutations

Incidental Mutation 'R0333:Prr14l'

38328

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

038542-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32827993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1386 (L1386P)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000144673] [ENSMUST00000155392]

AlphaFold

E9Q7C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120129
AA Change: L1386P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L1386P

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: 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 damaging
Transcript: ENSMUST00000155392
AA Change: L229P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: L229P

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

0.6693

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	T	C	9: 106,241,281	N214S	probably benign	Het
Antxr1	A	G	6: 87,188,838		probably benign	Het
Atxn7l3	A	T	11: 102,294,992		probably null	Het
Cab39l	A	G	14: 59,499,611	E60G	probably damaging	Het
Cdc5l	G	T	17: 45,393,216		probably benign	Het
Cux2	T	C	5: 121,860,608	E1423G	probably benign	Het
Dbndd1	G	T	8: 123,506,773	Q165K	probably damaging	Het
Drd1	C	A	13: 54,054,063	C37F	probably damaging	Het
Elp3	G	A	14: 65,590,593	P11L	probably benign	Het
F830045P16Rik	A	G	2: 129,472,857	Y167H	probably damaging	Het
Gimap3	G	A	6: 48,765,730	Q89*	probably null	Het
Herc1	G	A	9: 66,464,699		probably null	Het
Hist3h2a	C	A	11: 58,954,859	S41*	probably null	Het
Ipo11	A	G	13: 106,870,763	V603A	probably benign	Het
Kifap3	G	A	1: 163,797,264	A130T	probably damaging	Het
Klhl23	A	G	2: 69,833,897	Y530C	probably damaging	Het
Map4k1	C	T	7: 28,999,761		probably benign	Het
Mroh2b	T	A	15: 4,931,118	L778M	probably damaging	Het
Mtdh	T	C	15: 34,118,101	S344P	possibly damaging	Het
Ncoa3	T	G	2: 166,054,291	N371K	probably damaging	Het
Ncor2	C	A	5: 125,034,344		probably benign	Het
Nrn1l	A	G	8: 105,894,420	E48G	probably benign	Het
Nudcd1	A	G	15: 44,401,287	I271T	probably benign	Het
Olfr23	A	T	11: 73,940,767	I174F	possibly damaging	Het
Olfr31	T	C	14: 14,328,498	L129P	probably damaging	Het
Pard3b	A	G	1: 62,230,212	N653S	probably benign	Het
Park2	T	C	17: 11,067,140	F6L	probably damaging	Het
Plekhg1	A	C	10: 3,964,419	K1380N	probably damaging	Het
Ppara	T	A	15: 85,790,960	I210N	probably damaging	Het
Ppp2r5b	A	G	19: 6,229,047		probably benign	Het
Ralgapa1	A	G	12: 55,782,900		probably benign	Het
Reln	A	T	5: 21,929,242	L2563I	probably damaging	Het
Rps7	A	G	12: 28,631,201		probably benign	Het
Rslcan18	T	C	13: 67,098,622	K309E	probably damaging	Het
Sec14l5	C	T	16: 5,167,066	T92M	probably damaging	Het
Slc22a8	G	A	19: 8,608,150		probably benign	Het
Smad2	G	A	18: 76,262,621	A44T	probably damaging	Het
Smcr8	T	C	11: 60,780,222	V732A	possibly damaging	Het
Spata2l	A	G	8: 123,233,632	F306S	probably damaging	Het
Stab2	T	C	10: 86,841,627	D2552G	probably benign	Het
Tctn3	A	T	19: 40,607,267	L358H	possibly damaging	Het
Tk2	C	T	8: 104,248,514		probably benign	Het
Tm6sf2	C	T	8: 70,077,914	R215C	probably damaging	Het
Tmbim6	T	C	15: 99,406,674	I204T	probably damaging	Het
Tubgcp2	C	A	7: 139,999,347	W675C	probably damaging	Het
Usp48	T	A	4: 137,594,483	I62N	probably damaging	Het
Vmn2r74	T	C	7: 85,952,283	T716A	probably benign	Het
Vps13b	C	A	15: 35,879,803	T3008K	probably damaging	Het
Wnk1	G	A	6: 119,928,163		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
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

Predicted Primers

PCR Primer
(F):5'- ATCCCGCCGACATCTAAGTTCCTG -3'
(R):5'- GCTTTGCTGGAGGTGACCGAATAC -3'

Sequencing Primer
(F):5'- TTGTCAGTCTGGAGGCAAG -3'
(R):5'- AATACACGGTGCCTTTGTGAC -3'

Posted On

2013-05-23