Mutagenetix > Incidental Mutation

Incidental Mutation 'R5988:Prr14l'

481806

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

044168-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R5988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32830851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 433 (L433F)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120129] [ENSMUST00000130134] [ENSMUST00000144673] [ENSMUST00000155392]

AlphaFold

E9Q7C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120129
AA Change: L433F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L433F

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

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 84.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,377,217	M441K	probably damaging	Het
Actr8	T	A	14: 29,993,073	M615K	possibly damaging	Het
Acvr1c	A	T	2: 58,315,874	C25S	probably damaging	Het
Adk	A	T	14: 21,423,548	E291V	probably benign	Het
Ahnak	C	A	19: 9,009,347		probably benign	Het
Alg11	A	G	8: 22,062,028	T63A	probably benign	Het
Alox12	A	T	11: 70,251,587	S272T	probably benign	Het
Armc10	T	A	5: 21,660,583	S195T	probably damaging	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Baat	G	A	4: 49,502,871	P84S	probably damaging	Het
BB014433	G	A	8: 15,041,854	T333I	probably damaging	Het
BC035947	G	A	1: 78,499,206	R230*	probably null	Het
Bcr	G	A	10: 75,175,335	G26E	probably benign	Het
Ccdc88b	T	C	19: 6,855,980	E233G	probably damaging	Het
Cep295	A	G	9: 15,341,474	F353L	probably damaging	Het
Chd8	T	C	14: 52,217,938	M1031V	probably damaging	Het
Col17a1	C	G	19: 47,654,220	G885R	probably damaging	Het
Cyp11a1	A	C	9: 58,020,834	I214L	probably benign	Het
Cyp3a44	A	T	5: 145,794,918	S139R	probably damaging	Het
Ddhd2	G	A	8: 25,748,562	R64C	probably damaging	Het
Dll3	A	G	7: 28,294,112	W561R	probably damaging	Het
Dnajc3	T	C	14: 118,957,964	V97A	possibly damaging	Het
Drosha	C	T	15: 12,834,496		probably benign	Het
E2f8	T	C	7: 48,874,995	D302G	probably damaging	Het
Ecd	C	G	14: 20,324,561	D504H	probably damaging	Het
Eif4g2	C	A	7: 111,077,230	V331L	probably benign	Het
Fam124a	T	C	14: 62,587,537	I160T	possibly damaging	Het
Fat1	A	G	8: 45,029,456	T3051A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm5039	T	A	12: 88,321,432	N17I	unknown	Het
Gm572	A	G	4: 148,668,507	E281G	possibly damaging	Het
Gm884	T	C	11: 103,615,896		probably benign	Het
Gm9944	T	C	4: 144,453,205		probably benign	Het
Gstm5	A	C	3: 107,895,954	M1L	probably benign	Het
Havcr1	A	G	11: 46,756,137	T133A	probably damaging	Het
Hey1	T	G	3: 8,666,319	S68R	probably damaging	Het
Hsf2bp	C	T	17: 32,011,175		probably null	Het
Id2	T	C	12: 25,095,724	N96S	probably benign	Het
Ifi206	A	C	1: 173,481,340	S363R	possibly damaging	Het
Il21r	T	C	7: 125,632,288	F296S	probably damaging	Het
Irgm2	A	G	11: 58,220,187	T247A	probably benign	Het
Irx5	T	A	8: 92,360,671	Y410*	probably null	Het
Kmt2c	A	G	5: 25,311,120	I2575T	probably benign	Het
Lmbrd2	T	A	15: 9,182,406		probably null	Het
Lrig1	A	C	6: 94,628,042	S191A	probably damaging	Het
Lypd6b	T	A	2: 49,946,166	C120S	probably damaging	Het
Mpdz	A	G	4: 81,284,575		probably null	Het
Myh6	G	T	14: 54,965,394	R23S	probably damaging	Het
Nat8f6	C	T	6: 85,809,058	M36I	probably benign	Het
Nol8	T	A	13: 49,672,614	M970K	possibly damaging	Het
Nrxn2	T	C	19: 6,492,871	F1042L	possibly damaging	Het
Nup160	T	C	2: 90,689,209	W277R	probably damaging	Het
Ogfr	A	T	2: 180,594,233	T204S	probably damaging	Het
Olfr136	T	C	17: 38,336,020	F288L	probably damaging	Het
Olfr16	T	A	1: 172,957,156	Y120*	probably null	Het
Olfr356	A	G	2: 36,937,224	Y35C	probably damaging	Het
Olfr59	T	C	11: 74,288,853	V69A	probably benign	Het
Olfr667	A	T	7: 104,916,918	V126E	probably damaging	Het
Olfr898	T	C	9: 38,349,749	V222A	probably benign	Het
Pcdh15	A	G	10: 74,379,357	I648V	probably benign	Het
Pced1b	T	A	15: 97,384,347	V89E	probably damaging	Het
Phax	G	T	18: 56,575,492	A43S	probably benign	Het
Phf20	A	G	2: 156,307,330	E976G	probably damaging	Het
Plin4	T	C	17: 56,109,567	T8A	probably benign	Het
Plxna1	G	A	6: 89,357,540	Q36*	probably null	Het
Pold1	T	C	7: 44,540,580	Y394C	probably damaging	Het
Ppp1r26	T	A	2: 28,452,554	V732E	probably benign	Het
Pramel5	A	T	4: 144,273,146	C124S	possibly damaging	Het
Ptpn14	A	G	1: 189,850,387	Y477C	probably damaging	Het
Rcl1	T	A	19: 29,121,767	I154N	probably damaging	Het
Rfpl4	T	C	7: 5,115,502	Y23C	probably damaging	Het
Rims1	T	C	1: 22,596,463	K146E	probably damaging	Het
Rims2	A	T	15: 39,292,182	K126M	probably damaging	Het
Rpusd4	T	A	9: 35,272,520		probably null	Het
Scn7a	C	T	2: 66,726,214	W342*	probably null	Het
Sh3pxd2a	A	G	19: 47,364,638	V128A	probably benign	Het
Slc15a5	T	C	6: 138,043,531	H268R	probably benign	Het
Slc22a3	T	C	17: 12,433,895	I321V	possibly damaging	Het
Slc7a6os	A	G	8: 106,202,333	S231P	probably benign	Het
Smad5	T	C	13: 56,735,985	S395P	probably damaging	Het
Sorbs3	G	A	14: 70,203,303	T20I	probably benign	Het
Spata9	A	G	13: 75,968,117	I42V	probably benign	Het
Srl	C	T	16: 4,523,028	C9Y	unknown	Het
Sugp2	T	C	8: 70,243,225	F283L	probably benign	Het
Syne2	T	C	12: 75,929,417		probably null	Het
Taar6	A	G	10: 23,985,256	Y131H	probably damaging	Het
Tango2	T	C	16: 18,302,690	T137A	probably damaging	Het
Tas2r106	T	A	6: 131,678,643	I82L	probably benign	Het
Tbc1d32	T	C	10: 56,088,337	E922G	probably damaging	Het
Tgfb2	G	T	1: 186,704,581	P65Q	probably benign	Het
Tjp2	T	G	19: 24,114,100	I566L	probably benign	Het
Tnrc6a	T	A	7: 123,182,380	N1424K	probably damaging	Het
Trim7	A	T	11: 48,837,686	M54L	probably benign	Het
Trpm1	T	A	7: 64,226,805	S535R	probably benign	Het
Tsc2	T	A	17: 24,620,766	N417I	probably damaging	Het
Ttn	T	C	2: 76,969,788	R359G	probably benign	Het
Vim	A	G	2: 13,582,485	T458A	probably benign	Het
Vps11	A	T	9: 44,353,924	S612R	probably benign	Het
Wdfy3	A	G	5: 101,884,138	S2273P	probably benign	Het
Wwox	G	T	8: 114,706,341	R249L	probably benign	Het
Zbtb4	G	T	11: 69,778,964	G838C	probably damaging	Het
Zkscan3	A	T	13: 21,396,291	C76S	probably damaging	Het
Znrf3	C	T	11: 5,281,776	C483Y	probably damaging	Het
Zscan2	A	G	7: 80,876,199	K556R	possibly 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
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
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'- TTTGTGTGCAACCAGGGCTC -3'
(R):5'- CCATCCTGAGAAACGCTCTG -3'

Sequencing Primer
(F):5'- GGAGAACGTTTACTCATCTCACAGG -3'
(R):5'- GCTCTGAGGAAAGCAGCTTTTCC -3'

Posted On

2017-06-26