Mutagenetix > Incidental Mutations

Incidental Mutation 'R0416:Prr14l'

40305

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

038618-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32828717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1145 (I1145F)

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: I1145F

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: I1145F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,563,556	I18V	probably benign	Het
Adamdec1	T	G	14: 68,568,712	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,915,898		probably null	Het
Ankrd44	T	G	1: 54,743,339	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,747,365	N86K	probably damaging	Het
Arih1	T	A	9: 59,426,710		probably benign	Het
Astn1	T	A	1: 158,509,891	I389N	probably damaging	Het
Brca2	T	C	5: 150,569,392	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 30,100,688		probably benign	Het
Ccl7	C	A	11: 82,045,866		probably benign	Het
Cd74	A	T	18: 60,811,414	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,230,867		probably benign	Het
Cep89	T	A	7: 35,416,402		probably benign	Het
Cmya5	T	G	13: 93,089,856	N2908T	probably benign	Het
Coil	T	C	11: 88,981,986	L391S	possibly damaging	Het
Cpd	C	T	11: 76,785,204	V1208I	probably benign	Het
Ddx19a	T	C	8: 110,979,057	D254G	probably damaging	Het
Desi2	T	A	1: 178,256,321		probably benign	Het
Dnah11	A	T	12: 117,911,058	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,183,144	L53H	probably damaging	Het
Etv2	T	C	7: 30,634,633	Y225C	probably benign	Het
F10	G	A	8: 13,055,448	A338T	probably damaging	Het
Fam228b	T	A	12: 4,762,382	D132V	probably damaging	Het
Fat2	T	A	11: 55,284,134	I1918F	possibly damaging	Het
Fbxw5	C	T	2: 25,503,239	S214F	probably damaging	Het
Glyat	G	A	19: 12,651,453	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,510,981		noncoding transcript	Het
Ino80d	G	T	1: 63,086,276	T9K	possibly damaging	Het
Lifr	A	T	15: 7,166,914	D193V	probably damaging	Het
Lrp12	G	T	15: 39,878,911		probably benign	Het
Lrp3	A	G	7: 35,202,353	V701A	probably benign	Het
Mfsd11	T	A	11: 116,865,882		probably benign	Het
Mrto4	A	T	4: 139,349,732		probably null	Het
Msi1	T	C	5: 115,430,649	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,101,237	D168G	probably damaging	Het
Myo15	T	A	11: 60,511,174	V3099E	probably damaging	Het
Myrf	T	C	19: 10,215,812		probably null	Het
Nadk	C	A	4: 155,587,799		probably benign	Het
Nav1	T	C	1: 135,471,126	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,898,388	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,555,924		probably benign	Het
Nlrx1	T	G	9: 44,262,914	D330A	probably benign	Het
Olfr331	T	C	11: 58,502,396	I53M	unknown	Het
Olfr444	G	A	6: 42,955,570	C24Y	probably benign	Het
Osbpl3	C	T	6: 50,348,018	V167I	probably benign	Het
Pcnx	A	T	12: 81,974,466	I1410F	probably benign	Het
Piezo2	G	A	18: 63,024,491	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,583,424	K358*	probably null	Het
Polg	T	C	7: 79,452,240		probably benign	Het
Psmb1	C	T	17: 15,494,519	V39I	probably benign	Het
Ptk6	T	C	2: 181,202,308	Y66C	possibly damaging	Het
Robo4	T	C	9: 37,404,766		probably benign	Het
Sdk2	A	G	11: 113,803,203	Y1801H	probably damaging	Het
Serpinb3a	C	A	1: 107,049,386	A95S	probably benign	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,297		probably benign	Het
Sik2	A	T	9: 50,995,632	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,909,726	P495S	probably benign	Het
Smg1	A	T	7: 118,184,461		probably benign	Het
Stk3	T	A	15: 35,114,632	I45L	probably benign	Het
Tapbp	A	G	17: 33,925,418	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,285,481	K410E	probably damaging	Het
Trim30b	A	T	7: 104,363,766	M152K	probably benign	Het
Trpm6	G	T	19: 18,783,025		probably benign	Het
Tsc22d1	T	C	14: 76,505,303		probably benign	Het
U2surp	A	T	9: 95,485,607	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,441,402	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,420,275	Y163D	probably damaging	Het
Zfp62	A	T	11: 49,215,676	H198L	probably damaging	Het
Zmym1	A	G	4: 127,058,820	L56P	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
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'- TGACACTGTGCCTGACGACAAG -3'
(R):5'- GGGTGCCAAGACTCTGTCAAGATG -3'

Sequencing Primer
(F):5'- ACGACAAGTGTTGTCCCAG -3'
(R):5'- TCGGGAACATTCACCAGC -3'

Posted On

2013-05-23