Mutagenetix > Incidental Mutations

Incidental Mutation 'R0086:Prr14l'

19888

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

038373-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R0086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 32831559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119569 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

probably benign
Transcript: ENSMUST00000120129

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.6%
20x: 86.6%

Validation Efficiency

96% (91/95)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 82,062,601	V233D	probably benign	Het
Abcg8	T	C	17: 84,692,771	V252A	probably damaging	Het
Adam39	C	T	8: 40,826,360	T596I	possibly damaging	Het
Agap2	C	A	10: 127,087,882		probably null	Het
Ap4b1	T	G	3: 103,814,860	V50G	probably damaging	Het
Atp13a1	T	A	8: 69,797,774	I381N	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Birc6	T	C	17: 74,593,166	V1113A	possibly damaging	Het
C1galt1	T	A	6: 7,867,051		probably benign	Het
Capza2	A	G	6: 17,660,774	K158E	probably damaging	Het
Cenpe	C	T	3: 135,264,424		probably benign	Het
Cercam	T	C	2: 29,871,064	L42P	probably damaging	Het
Cfap54	T	C	10: 93,028,594	E807G	possibly damaging	Het
Cog6	A	G	3: 52,993,570	V157A	probably damaging	Het
Cts6	A	T	13: 61,196,457		probably benign	Het
Cyp2c39	A	T	19: 39,510,913	I15F	unknown	Het
Dock7	A	T	4: 98,945,144	V1970D	probably damaging	Het
Exph5	A	G	9: 53,337,930	D73G	possibly damaging	Het
Gjc2	A	T	11: 59,176,846	M270K	probably benign	Het
Gns	G	A	10: 121,391,473	D463N	probably damaging	Het
Hoxd8	G	T	2: 74,705,932	G129W	probably damaging	Het
Ina	A	G	19: 47,023,591	T483A	possibly damaging	Het
Lmod3	T	A	6: 97,247,345	Q505L	probably damaging	Het
Map3k13	A	G	16: 21,914,225	N526D	probably damaging	Het
Map3k2	A	T	18: 32,218,468	I435F	probably damaging	Het
Mfsd6l	A	G	11: 68,556,565	T81A	probably benign	Het
Micall1	T	C	15: 79,125,489		probably benign	Het
Mkrn2	G	T	6: 115,613,335	M217I	possibly damaging	Het
Myh11	C	A	16: 14,224,019	Q720H	probably damaging	Het
Ncapg	A	G	5: 45,676,744		probably null	Het
Nlrp9a	G	A	7: 26,558,547	C530Y	probably damaging	Het
Numb	T	C	12: 83,795,930	T442A	probably damaging	Het
Oip5	C	T	2: 119,617,929		probably benign	Het
Olfr1224-ps1	C	T	2: 89,156,476	R233H	probably benign	Het
Olfr342	A	T	2: 36,527,450	I13F	possibly damaging	Het
Olfr639	A	G	7: 104,012,054	I216T	probably benign	Het
Olfr936	T	C	9: 39,046,895	T175A	probably benign	Het
Pcnx	T	C	12: 81,992,058		probably benign	Het
Pkhd1l1	T	A	15: 44,556,008	N2956K	possibly damaging	Het
Plcl1	T	A	1: 55,715,583	W1030R	probably damaging	Het
Polr2i	G	A	7: 30,233,086	V73M	probably damaging	Het
Pxdn	G	T	12: 30,002,419	R865L	possibly damaging	Het
Scnn1a	T	C	6: 125,342,587		probably benign	Het
Shkbp1	G	T	7: 27,352,026	H203N	probably benign	Het
Skiv2l2	G	T	13: 112,927,328	F10L	probably benign	Het
Slc22a14	C	T	9: 119,222,738		probably benign	Het
Snap29	C	A	16: 17,428,236	T240K	probably damaging	Het
Sp2	C	A	11: 96,957,427	G457C	probably damaging	Het
Ssr2	C	T	3: 88,576,880		probably benign	Het
Synpo2	A	T	3: 123,117,104	C297*	probably null	Het
Tpm3	T	A	3: 90,090,092		probably benign	Het
Trmt6	CTG	C	2: 132,809,017		probably benign	Het
Trp63	T	C	16: 25,871,087	Y431H	probably damaging	Het
Tuba3b	T	A	6: 145,621,160	C376S	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Ulk1	G	A	5: 110,787,707		probably benign	Het
Usp24	T	C	4: 106,392,360	S1425P	probably damaging	Het
Xdh	T	C	17: 73,884,438	I1335V	probably benign	Het
Zmynd15	T	C	11: 70,464,232	Y352H	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
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
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'- GGTTACTGGATTCCACAGCCCTTTC -3'
(R):5'- TGGCACTGTGAGACAACATCTGAC -3'

Sequencing Primer
(F):5'- GGGTTTTTTCAGCACACGC -3'
(R):5'- GACCAGCAATGAGTTTTGGG -3'

Posted On

2013-04-11