Mutagenetix > Incidental Mutations

Incidental Mutation 'R7649:Prr14l'

590686

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7649 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32789820-32854256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32828245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1302 (G1302D)

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: G1302D

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: G1302D

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 damaging
Transcript: ENSMUST00000155392
AA Change: G145D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: G145D

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	T	C	5: 25,848,366	V319A	probably benign	Het
Adam28	T	A	14: 68,634,833	Y320F	probably benign	Het
Adam4	T	C	12: 81,420,377	Y490C	probably damaging	Het
Ampd3	G	T	7: 110,777,842	L13F	probably benign	Het
Arhgap45	C	A	10: 80,031,001	Q1113K	probably benign	Het
Arid5b	T	C	10: 68,118,345	T370A	possibly damaging	Het
Arl15	A	G	13: 113,967,672	D115G	possibly damaging	Het
AW146154	G	A	7: 41,480,732	T320I	probably benign	Het
Cdh17	C	T	4: 11,814,698	P751L	probably damaging	Het
Chchd4	C	T	6: 91,467,772	R11Q	probably benign	Het
Clta	T	G	4: 44,025,494	I140R	possibly damaging	Het
Cnpy1	T	C	5: 28,207,284	T84A	probably benign	Het
Cpne5	T	C	17: 29,226,198	D44G	probably damaging	Het
Crkl	T	C	16: 17,452,502	S9P	unknown	Het
Csmd3	T	C	15: 47,669,143	D1641G		Het
Ctnnd2	A	G	15: 31,027,484	T1185A	probably benign	Het
Dlc1	A	T	8: 36,582,740	L607Q	probably damaging	Het
Dpy19l2	T	C	9: 24,696,163	M1V	probably null	Het
Dst	T	C	1: 34,167,697	V982A	probably benign	Het
Fam135b	T	C	15: 71,462,580	I922V	probably benign	Het
Fbxl13	T	C	5: 21,614,666	E245G	probably benign	Het
Fcgbp	T	C	7: 28,091,503	S730P	possibly damaging	Het
Ggt1	T	C	10: 75,585,456	V468A	possibly damaging	Het
Gja5	A	T	3: 97,051,641	H338L	probably benign	Het
Herpud2	T	C	9: 25,110,606	E248G	possibly damaging	Het
Il17rd	C	A	14: 27,039,210	A36E	probably benign	Het
Irf2bpl	T	C	12: 86,882,798	Y367C	possibly damaging	Het
Lama1	T	A	17: 67,737,554	D149E		Het
Lipf	A	T	19: 33,965,698	E135D	possibly damaging	Het
Manea	T	A	4: 26,328,234	D269V	probably damaging	Het
Megf6	A	G	4: 154,265,085	Y910C	probably damaging	Het
Mical3	G	A	6: 120,934,948	R1928W	probably damaging	Het
Olfr1462	T	A	19: 13,190,772	I35N	possibly damaging	Het
Olfr273	G	A	4: 52,855,692	Q274*	probably null	Het
Plch1	G	T	3: 63,698,169	S1438*	probably null	Het
Por	T	C	5: 135,734,505	F595L	probably damaging	Het
Prkcg	G	A	7: 3,329,964	R634H	probably benign	Het
Rcan3	A	T	4: 135,412,488	S135T	probably benign	Het
Rnf223	A	G	4: 156,132,203	M12V	probably benign	Het
Rps6kb2	A	G	19: 4,157,021	S483P	unknown	Het
Sacs	T	A	14: 61,203,228	F908I	possibly damaging	Het
Slc4a9	A	G	18: 36,528,377	Q64R	probably benign	Het
Slco4c1	T	A	1: 96,828,942	I552F	probably benign	Het
Sppl2b	C	T	10: 80,867,419	P505L	probably benign	Het
Sptbn4	A	G	7: 27,361,577	S2434P	possibly damaging	Het
Ssh1	A	T	5: 113,950,551	M395K	probably benign	Het
Stk10	A	T	11: 32,577,764	I171F		Het
Tmx3	C	T	18: 90,540,030	A402V	probably damaging	Het
Tnfrsf13c	T	C	15: 82,224,140	D58G	possibly damaging	Het
Tnk1	T	C	11: 69,853,577		probably null	Het
Trav14n-3	A	T	14: 53,370,494	N94Y	probably damaging	Het
Trav5-4	A	T	14: 53,704,445	K92*	probably null	Het
Tsga10	C	T	1: 37,835,148	R190H	unknown	Het
Zfhx3	T	C	8: 108,951,644	F3109L	probably benign	Het
Zfhx4	A	G	3: 5,242,110	Y132C	probably damaging	Het
Zfp521	T	C	18: 13,844,356	E1000G	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
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
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'- TACATGGGCTGAGAAGTCTGTG -3'
(R):5'- CAGGATAAGCAACCTGTGGC -3'

Sequencing Primer
(F):5'- TGGGTTAGAGAAACTCTTTCCAC -3'
(R):5'- TGGCTGACCAAGATGAGTCCATC -3'

Posted On

2019-10-24