Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Prr14l'

597358

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32827253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 1633 (L1633I)

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: L1633I

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

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L1633I

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

possibly damaging
Transcript: ENSMUST00000155392
AA Change: L476I

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: L476I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,184,107	T1377A	probably damaging	Het
AI661453	G	T	17: 47,467,514	E722*	probably null	Het
Ap2b1	A	T	11: 83,367,907	K735*	probably null	Het
Aqp4	T	C	18: 15,399,976	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,752,458	V117L	probably benign	Het
C1rb	A	G	6: 124,580,431	N509S	probably benign	Het
Cep44	A	G	8: 56,532,807	V350A	probably benign	Het
Cmya5	T	C	13: 93,098,172	Q136R	probably benign	Het
Cntrl	T	C	2: 35,111,679	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,556,963	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,493,664	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,751,193	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,171,436	D294G	probably benign	Het
Ddx10	A	T	9: 53,225,604	L336Q	probably damaging	Het
Dopey1	A	G	9: 86,489,702	T149A	possibly damaging	Het
Epg5	A	G	18: 77,948,345	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,178,317	Q60L	probably damaging	Het
Farsb	T	A	1: 78,480,103	E41D	probably benign	Het
Frem1	T	C	4: 82,913,980	D1956G	probably benign	Het
Fzd4	T	A	7: 89,407,784	Y346*	probably null	Het
Fzd7	A	T	1: 59,483,482	S175C	probably benign	Het
Gdi2	A	G	13: 3,548,956	T47A	probably benign	Het
Gm8765	A	T	13: 50,701,781	D485V	probably damaging	Het
Gpr155	A	T	2: 73,382,206	H24Q	probably benign	Het
Hdac7	A	T	15: 97,800,761	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,806,488	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,824,972	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,451,260	R223*	probably null	Het
Igkv4-91	T	G	6: 68,768,777	S46R	probably benign	Het
Itk	T	A	11: 46,331,895	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,396,761	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 142,175,399		probably benign	Het
Lce1m	C	A	3: 93,018,508	G41W	unknown	Het
Mapk10	T	A	5: 103,038,553	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,461,653	E812G	probably damaging	Het
Mlh1	C	A	9: 111,252,863		probably null	Het
Mroh1	A	G	15: 76,433,275	D784G	possibly damaging	Het
Neo1	A	T	9: 58,956,005	D426E	probably benign	Het
Nol4	T	A	18: 23,038,602	M1L	probably benign	Het
Nr1h3	A	G	2: 91,185,025	F338S	probably damaging	Het
Oasl2	A	G	5: 114,905,057	K297E	probably benign	Het
Olfr1030	A	G	2: 85,984,716	N292S	possibly damaging	Het
Olfr1129	A	G	2: 87,575,797	T238A	probably benign	Het
Olfr1306	A	G	2: 111,912,582	I116T	probably benign	Het
Olfr419	C	T	1: 174,250,670	V86I	probably benign	Het
Olfr683	T	C	7: 105,143,800	I164M	probably benign	Het
Osbpl9	T	C	4: 109,133,773	T97A	possibly damaging	Het
P3h2	A	T	16: 25,970,937	Y527N	probably damaging	Het
Papss2	A	T	19: 32,620,179	H9L	probably benign	Het
Pcdha4	C	A	18: 36,953,301	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,836,338	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,272,968	Q345L	possibly damaging	Het
Prss51	T	A	14: 64,095,927	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,457,042		probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Slc2a7	T	C	4: 150,154,684	I122T	possibly damaging	Het
Sprr3	G	A	3: 92,457,108	P143L	probably benign	Het
Sugct	A	T	13: 17,577,519	S181T	possibly damaging	Het
Syne2	G	A	12: 76,038,923	R141Q	probably benign	Het
Taok1	T	C	11: 77,537,899	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,362,023		probably null	Het
Thada	T	C	17: 84,252,390	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,902,156	L104S	probably damaging	Het
Tln2	T	G	9: 67,395,473	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,814,311	E75G	probably damaging	Het
Tox3	A	G	8: 90,248,932	L357P	probably damaging	Het
Ubr4	T	C	4: 139,470,292	V4492A	unknown	Het
Ulk4	A	G	9: 121,266,512		probably null	Het
Ush2a	A	G	1: 188,443,406	T1234A	probably benign	Het
Usp53	G	A	3: 122,949,238	T683I	probably damaging	Het
Vcan	T	A	13: 89,689,323	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,750,626	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,586,401	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,263,040	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,447,157	D785G	probably benign	Het
Zfp397	A	T	18: 23,957,072	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,915,805	T1393S	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
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
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'- GGCAGAGAACAGAAGACCTTATCTG -3'
(R):5'- ACTTTTCCTGAGCACTGCGC -3'

Sequencing Primer
(F):5'- GAAGACCTTATCTGCTATAGAGGCTG -3'
(R):5'- ATCGAGGCTTGCCTTAACAG -3'

Posted On

2019-11-26