Mutagenetix > Incidental Mutation

Incidental Mutation 'R0639:Prr14l'

56897

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

038828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R0639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32828915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1079 (D1079N)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

probably benign
Transcript: ENSMUST00000120129
AA Change: D1079N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: D1079N

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 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: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 45,733,073	W86*	probably null	Het
5830411N06Rik	A	G	7: 140,247,959	N27D	probably benign	Het
Acadl	T	C	1: 66,857,408	H75R	probably benign	Het
Adamtsl1	T	C	4: 86,277,143	F599S	probably damaging	Het
Adrb3	T	C	8: 27,228,265	N52S	probably damaging	Het
Agbl3	T	A	6: 34,799,705	L377Q	probably damaging	Het
Akap9	T	C	5: 4,060,318	L3007P	probably damaging	Het
Amer3	T	A	1: 34,587,821	Y380*	probably null	Het
Ankrd13d	A	T	19: 4,273,019		probably null	Het
Ap4m1	T	A	5: 138,176,239	C235S	probably benign	Het
Arhgap29	T	C	3: 122,007,641	F675S	probably damaging	Het
Asah2	C	A	19: 32,008,639	V544F	probably damaging	Het
Ash2l	A	G	8: 25,823,291	I389T	possibly damaging	Het
Bend5	T	C	4: 111,433,298	S164P	probably benign	Het
Cacna1d	A	G	14: 30,171,294		probably null	Het
Cdc25b	A	G	2: 131,197,262	N516D	probably benign	Het
Cdc27	A	G	11: 104,531,734	Y125H	probably damaging	Het
Cdk5r2	C	T	1: 74,855,836	L247F	probably damaging	Het
Cenpf	C	A	1: 189,658,062	G1191V	probably benign	Het
Cops4	C	T	5: 100,537,460	T293I	possibly damaging	Het
Csmd3	A	G	15: 47,913,940	L1294P	probably damaging	Het
Dclre1a	T	C	19: 56,538,440	Y848C	probably damaging	Het
Disp2	A	T	2: 118,790,844	I686F	possibly damaging	Het
Dnah6	T	A	6: 73,022,412	Y4012F	probably benign	Het
Dnajc11	C	G	4: 151,969,936	R200G	probably damaging	Het
Dnhd1	A	T	7: 105,696,464	D2272V	possibly damaging	Het
Elane	A	C	10: 79,886,349	R5S	possibly damaging	Het
Entpd7	G	A	19: 43,691,094	V29M	probably benign	Het
Fanca	A	G	8: 123,289,359		probably null	Het
Fgl1	G	T	8: 41,191,624	T281K	probably benign	Het
Flii	T	C	11: 60,722,997		probably null	Het
Foxn1	T	C	11: 78,371,144	D133G	possibly damaging	Het
Fzd7	T	A	1: 59,484,560	M534K	probably damaging	Het
Galnt5	A	G	2: 57,999,395	T336A	probably benign	Het
Gli3	G	A	13: 15,724,715	D896N	probably damaging	Het
Gsx1	G	T	5: 147,189,946	W193L	probably damaging	Het
Gtpbp3	A	T	8: 71,492,735	I485F	probably damaging	Het
H2-M11	A	G	17: 36,547,391	T26A	probably benign	Het
Igfbp7	T	C	5: 77,351,980	D243G	probably damaging	Het
Il31ra	A	T	13: 112,525,843	D477E	possibly damaging	Het
Inmt	A	C	6: 55,171,227	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,501,147	M501L	probably benign	Het
Itsn2	T	C	12: 4,712,556	F1579L	probably damaging	Het
Kat2b	C	A	17: 53,567,538	A70E	probably benign	Het
Klhl20	T	C	1: 161,093,711	E58G	probably damaging	Het
Krt79	A	T	15: 101,931,548	Y337*	probably null	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Letm1	T	C	5: 33,769,426	I176V	possibly damaging	Het
Lingo3	C	A	10: 80,835,784	R104L	probably benign	Het
Lrig3	T	G	10: 126,010,221	C840G	probably damaging	Het
Lrrc9	A	G	12: 72,486,288	N977S	probably damaging	Het
Lrrk2	T	A	15: 91,772,996	M1831K	probably benign	Het
Mn1	A	T	5: 111,419,316	D384V	probably damaging	Het
Morc3	C	A	16: 93,853,850	H319Q	probably damaging	Het
Morn1	T	C	4: 155,089,503	F56L	possibly damaging	Het
Mrpl53	G	T	6: 83,109,411	V64L	probably damaging	Het
Myo15	T	A	11: 60,479,336	V974D	probably benign	Het
Neb	A	G	2: 52,256,124	V2947A	possibly damaging	Het
Nfasc	A	C	1: 132,603,816	N737K	probably damaging	Het
Nlk	T	C	11: 78,572,277	D464G	possibly damaging	Het
Nlrc4	C	T	17: 74,426,963	R985K	probably benign	Het
Nsun6	T	C	2: 14,996,336	K470E	probably benign	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Olfr887	G	A	9: 38,085,370	C178Y	probably damaging	Het
Otop1	T	C	5: 38,287,948	V150A	possibly damaging	Het
Pclo	C	T	5: 14,681,749	R296*	probably null	Het
Pdzd2	A	T	15: 12,458,058	C240S	possibly damaging	Het
Plekhg5	A	G	4: 152,114,120	T922A	probably benign	Het
Plekhm2	A	C	4: 141,642,070	L101R	probably damaging	Het
Plscr3	T	A	11: 69,847,994	C161S	probably benign	Het
Ptpru	A	T	4: 131,771,179	V1377E	possibly damaging	Het
Rab37	C	A	11: 115,158,702	D112E	probably benign	Het
Raet1e	T	A	10: 22,174,375	I19N	probably damaging	Het
Rassf5	T	C	1: 131,245,066	Y22C	probably damaging	Het
Rp1	T	C	1: 4,346,498	T1464A	probably benign	Het
Safb	T	A	17: 56,601,092		probably benign	Het
Scarf2	A	G	16: 17,806,505		probably null	Het
Sh3d19	T	C	3: 86,106,973	S415P	probably benign	Het
Slc26a9	T	A	1: 131,763,804	L595Q	probably damaging	Het
Slc4a8	T	C	15: 100,796,550	Y470H	probably damaging	Het
Slitrk3	T	C	3: 73,049,649	N597D	probably benign	Het
Spata31	T	A	13: 64,922,213	V725E	probably benign	Het
Spink12	T	A	18: 44,107,764	C72*	probably null	Het
Spink5	T	A	18: 44,012,975		probably null	Het
Stk40	C	A	4: 126,118,332	S9*	probably null	Het
Sypl	A	T	12: 32,965,421	T40S	probably damaging	Het
Tbc1d8	C	T	1: 39,391,209	E438K	probably benign	Het
Tdrd7	A	G	4: 45,989,102	T111A	probably benign	Het
Tg	A	T	15: 66,741,484		probably null	Het
Tlr5	T	A	1: 182,973,889	W253R	probably damaging	Het
Tmprss11c	C	T	5: 86,235,469	C353Y	probably damaging	Het
Tnfrsf8	T	A	4: 145,288,027	M271L	probably benign	Het
Toe1	T	C	4: 116,806,750	N21S	probably benign	Het
Tpp2	T	C	1: 43,975,447	F649L	probably benign	Het
Ttll1	G	A	15: 83,502,225	Q60*	probably null	Het
Vcp	C	T	4: 42,982,565	R709Q	probably benign	Het
Vmn1r119	T	A	7: 21,011,668	H263L	possibly damaging	Het
Vmn1r195	C	A	13: 22,278,941	Q194K	probably damaging	Het
Vmn1r33	T	C	6: 66,611,799	Y257C	probably damaging	Het
Vmn2r15	A	G	5: 109,293,015	F326L	probably benign	Het
Wbp11	A	T	6: 136,816,110		probably benign	Het
Wwp2	T	G	8: 107,517,946	V250G	probably benign	Het
Xpnpep3	T	C	15: 81,430,837	V246A	probably benign	Het
Zcchc14	G	A	8: 121,605,449	R419*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTTTCCAACAGGTATGTGACCC -3'
(R):5'- AGAACTCCCAAATGCTGCTGCTTC -3'

Sequencing Primer
(F):5'- GTATGTGACCCAGTAGTCCAGTC -3'
(R):5'- CAGACTCTGCCATTGATCATGAAG -3'

Posted On

2013-07-11