Mutagenetix > Incidental Mutation

Incidental Mutation 'R5988:Prr14l'

481806

Institutional Source

Beutler Lab

Gene Symbol

Prr14l

Ensembl Gene

ENSMUSG00000054280

Gene Name

proline rich 14-like

Synonyms

Prl14l, 6030436E02Rik, C330019G07Rik

MMRRC Submission

044168-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32947164-33011600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32988195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 433 (L433F)

Ref Sequence

ENSEMBL: ENSMUSP00000113259 (fasta)

Gene Model

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

AlphaFold

E9Q7C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120129
AA Change: L433F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L433F

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

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 84.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	A	14: 29,715,030 (GRCm39)	M615K	possibly damaging	Het
Acvr1c	A	T	2: 58,205,886 (GRCm39)	C25S	probably damaging	Het
Adk	A	T	14: 21,473,616 (GRCm39)	E291V	probably benign	Het
Ahnak	C	A	19: 8,986,711 (GRCm39)		probably benign	Het
Alg11	A	G	8: 22,552,044 (GRCm39)	T63A	probably benign	Het
Alox12	A	T	11: 70,142,413 (GRCm39)	S272T	probably benign	Het
Armc10	T	A	5: 21,865,581 (GRCm39)	S195T	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Baat	G	A	4: 49,502,871 (GRCm39)	P84S	probably damaging	Het
BB014433	G	A	8: 15,091,854 (GRCm39)	T333I	probably damaging	Het
BC035947	G	A	1: 78,475,843 (GRCm39)	R230*	probably null	Het
Bcr	G	A	10: 75,011,167 (GRCm39)	G26E	probably benign	Het
Ccdc88b	T	C	19: 6,833,348 (GRCm39)	E233G	probably damaging	Het
Cep295	A	G	9: 15,252,770 (GRCm39)	F353L	probably damaging	Het
Chd8	T	C	14: 52,455,395 (GRCm39)	M1031V	probably damaging	Het
Col17a1	C	G	19: 47,642,659 (GRCm39)	G885R	probably damaging	Het
Cyp11a1	A	C	9: 57,928,117 (GRCm39)	I214L	probably benign	Het
Cyp3a44	A	T	5: 145,731,728 (GRCm39)	S139R	probably damaging	Het
Ddhd2	G	A	8: 26,238,589 (GRCm39)	R64C	probably damaging	Het
Dll3	A	G	7: 27,993,537 (GRCm39)	W561R	probably damaging	Het
Dnajc3	T	C	14: 119,195,376 (GRCm39)	V97A	possibly damaging	Het
Drosha	C	T	15: 12,834,582 (GRCm39)		probably benign	Het
E2f8	T	C	7: 48,524,743 (GRCm39)	D302G	probably damaging	Het
Ecd	C	G	14: 20,374,629 (GRCm39)	D504H	probably damaging	Het
Eif1ad15	T	A	12: 88,288,202 (GRCm39)	N17I	unknown	Het
Eif4g2	C	A	7: 110,676,437 (GRCm39)	V331L	probably benign	Het
Fam124a	T	C	14: 62,824,986 (GRCm39)	I160T	possibly damaging	Het
Fat1	A	G	8: 45,482,493 (GRCm39)	T3051A	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm572	A	G	4: 148,752,964 (GRCm39)	E281G	possibly damaging	Het
Gm9944	T	C	4: 144,179,775 (GRCm39)		probably benign	Het
Gstm5	A	C	3: 107,803,270 (GRCm39)	M1L	probably benign	Het
Havcr1	A	G	11: 46,646,964 (GRCm39)	T133A	probably damaging	Het
Hey1	T	G	3: 8,731,379 (GRCm39)	S68R	probably damaging	Het
Hsf2bp	C	T	17: 32,230,149 (GRCm39)		probably null	Het
Id2	T	C	12: 25,145,723 (GRCm39)	N96S	probably benign	Het
Ifi206	A	C	1: 173,308,906 (GRCm39)	S363R	possibly damaging	Het
Il21r	T	C	7: 125,231,460 (GRCm39)	F296S	probably damaging	Het
Irgm2	A	G	11: 58,111,013 (GRCm39)	T247A	probably benign	Het
Irx5	T	A	8: 93,087,299 (GRCm39)	Y410*	probably null	Het
Kmt2c	A	G	5: 25,516,118 (GRCm39)	I2575T	probably benign	Het
Lmbrd2	T	A	15: 9,182,493 (GRCm39)		probably null	Het
Lrig1	A	C	6: 94,605,023 (GRCm39)	S191A	probably damaging	Het
Lrrc37	T	C	11: 103,506,722 (GRCm39)		probably benign	Het
Lypd6b	T	A	2: 49,836,178 (GRCm39)	C120S	probably damaging	Het
Mpdz	A	G	4: 81,202,812 (GRCm39)		probably null	Het
Myh6	G	T	14: 55,202,851 (GRCm39)	R23S	probably damaging	Het
Nat8f6	C	T	6: 85,786,040 (GRCm39)	M36I	probably benign	Het
Nol8	T	A	13: 49,826,090 (GRCm39)	M970K	possibly damaging	Het
Nrxn2	T	C	19: 6,542,901 (GRCm39)	F1042L	possibly damaging	Het
Nup160	T	C	2: 90,519,553 (GRCm39)	W277R	probably damaging	Het
Ogfr	A	T	2: 180,236,026 (GRCm39)	T204S	probably damaging	Het
Or10j5	T	A	1: 172,784,723 (GRCm39)	Y120*	probably null	Het
Or1ak2	A	G	2: 36,827,236 (GRCm39)	Y35C	probably damaging	Het
Or1p1	T	C	11: 74,179,679 (GRCm39)	V69A	probably benign	Het
Or2n1d	T	C	17: 38,646,911 (GRCm39)	F288L	probably damaging	Het
Or52n2b	A	T	7: 104,566,125 (GRCm39)	V126E	probably damaging	Het
Or8c20	T	C	9: 38,261,045 (GRCm39)	V222A	probably benign	Het
Pcdh15	A	G	10: 74,215,189 (GRCm39)	I648V	probably benign	Het
Pced1b	T	A	15: 97,282,228 (GRCm39)	V89E	probably damaging	Het
Phax	G	T	18: 56,708,564 (GRCm39)	A43S	probably benign	Het
Phf20	A	G	2: 156,149,250 (GRCm39)	E976G	probably damaging	Het
Plin4	T	C	17: 56,416,567 (GRCm39)	T8A	probably benign	Het
Plxna1	G	A	6: 89,334,522 (GRCm39)	Q36*	probably null	Het
Pold1	T	C	7: 44,190,004 (GRCm39)	Y394C	probably damaging	Het
Ppp1r26	T	A	2: 28,342,566 (GRCm39)	V732E	probably benign	Het
Pramel5	A	T	4: 143,999,716 (GRCm39)	C124S	possibly damaging	Het
Prorp	T	A	12: 55,424,002 (GRCm39)	M441K	probably damaging	Het
Ptpn14	A	G	1: 189,582,584 (GRCm39)	Y477C	probably damaging	Het
Rcl1	T	A	19: 29,099,167 (GRCm39)	I154N	probably damaging	Het
Rfpl4	T	C	7: 5,118,501 (GRCm39)	Y23C	probably damaging	Het
Rims1	T	C	1: 22,635,544 (GRCm39)	K146E	probably damaging	Het
Rims2	A	T	15: 39,155,577 (GRCm39)	K126M	probably damaging	Het
Rpusd4	T	A	9: 35,183,816 (GRCm39)		probably null	Het
Scn7a	C	T	2: 66,556,558 (GRCm39)	W342*	probably null	Het
Sh3pxd2a	A	G	19: 47,353,077 (GRCm39)	V128A	probably benign	Het
Slc15a5	T	C	6: 138,020,529 (GRCm39)	H268R	probably benign	Het
Slc22a3	T	C	17: 12,652,782 (GRCm39)	I321V	possibly damaging	Het
Slc7a6os	A	G	8: 106,928,965 (GRCm39)	S231P	probably benign	Het
Smad5	T	C	13: 56,883,798 (GRCm39)	S395P	probably damaging	Het
Sorbs3	G	A	14: 70,440,752 (GRCm39)	T20I	probably benign	Het
Spata9	A	G	13: 76,116,236 (GRCm39)	I42V	probably benign	Het
Srl	C	T	16: 4,340,892 (GRCm39)	C9Y	unknown	Het
Sugp2	T	C	8: 70,695,875 (GRCm39)	F283L	probably benign	Het
Syne2	T	C	12: 75,976,191 (GRCm39)		probably null	Het
Taar6	A	G	10: 23,861,154 (GRCm39)	Y131H	probably damaging	Het
Tango2	T	C	16: 18,120,554 (GRCm39)	T137A	probably damaging	Het
Tas2r106	T	A	6: 131,655,606 (GRCm39)	I82L	probably benign	Het
Tbc1d32	T	C	10: 55,964,433 (GRCm39)	E922G	probably damaging	Het
Tgfb2	G	T	1: 186,436,778 (GRCm39)	P65Q	probably benign	Het
Tjp2	T	G	19: 24,091,464 (GRCm39)	I566L	probably benign	Het
Tnrc6a	T	A	7: 122,781,603 (GRCm39)	N1424K	probably damaging	Het
Trim7	A	T	11: 48,728,513 (GRCm39)	M54L	probably benign	Het
Trpm1	T	A	7: 63,876,553 (GRCm39)	S535R	probably benign	Het
Tsc2	T	A	17: 24,839,740 (GRCm39)	N417I	probably damaging	Het
Ttn	T	C	2: 76,800,132 (GRCm39)	R359G	probably benign	Het
Vim	A	G	2: 13,587,296 (GRCm39)	T458A	probably benign	Het
Vps11	A	T	9: 44,265,221 (GRCm39)	S612R	probably benign	Het
Wdfy3	A	G	5: 102,032,004 (GRCm39)	S2273P	probably benign	Het
Wwox	G	T	8: 115,433,081 (GRCm39)	R249L	probably benign	Het
Zbtb4	G	T	11: 69,669,790 (GRCm39)	G838C	probably damaging	Het
Zkscan3	A	T	13: 21,580,461 (GRCm39)	C76S	probably damaging	Het
Znrf3	C	T	11: 5,231,776 (GRCm39)	C483Y	probably damaging	Het
Zscan2	A	G	7: 80,525,947 (GRCm39)	K556R	possibly damaging	Het

Other mutations in Prr14l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Prr14l	APN	5	32,988,020 (GRCm39)	missense	probably benign	0.04
IGL00331:Prr14l	APN	5	32,988,410 (GRCm39)	missense	probably benign	0.02
IGL01571:Prr14l	APN	5	32,986,150 (GRCm39)	missense	probably benign	0.01
IGL01795:Prr14l	APN	5	32,989,189 (GRCm39)	unclassified	probably benign
IGL01929:Prr14l	APN	5	32,985,587 (GRCm39)	missense	probably benign	0.09
IGL01959:Prr14l	APN	5	32,987,549 (GRCm39)	missense	possibly damaging	0.84
IGL02139:Prr14l	APN	5	32,984,876 (GRCm39)	missense	probably damaging	1.00
IGL02321:Prr14l	APN	5	32,985,151 (GRCm39)	missense	probably benign	0.10
IGL02508:Prr14l	APN	5	32,988,286 (GRCm39)	missense	probably benign	0.01
IGL02551:Prr14l	APN	5	32,988,828 (GRCm39)	missense	probably damaging	1.00
IGL02585:Prr14l	APN	5	32,986,828 (GRCm39)	missense	possibly damaging	0.59
IGL02614:Prr14l	APN	5	32,987,887 (GRCm39)	missense	possibly damaging	0.76
IGL02808:Prr14l	APN	5	32,985,526 (GRCm39)	missense	possibly damaging	0.94
IGL02836:Prr14l	APN	5	32,988,440 (GRCm39)	missense	probably benign	0.42
IGL02952:Prr14l	APN	5	32,993,014 (GRCm39)	missense	unknown
IGL03034:Prr14l	APN	5	32,984,782 (GRCm39)	missense	possibly damaging	0.48
Polymer	UTSW	5	32,984,489 (GRCm39)	missense	probably benign	0.34
Postwar	UTSW	5	32,988,028 (GRCm39)	missense	probably benign	0.17
H8562:Prr14l	UTSW	5	32,951,072 (GRCm39)	missense	probably damaging	1.00
R0086:Prr14l	UTSW	5	32,988,903 (GRCm39)	unclassified	probably benign
R0149:Prr14l	UTSW	5	32,950,985 (GRCm39)	missense	probably damaging	1.00
R0333:Prr14l	UTSW	5	32,985,337 (GRCm39)	missense	probably damaging	1.00
R0361:Prr14l	UTSW	5	32,950,985 (GRCm39)	missense	probably damaging	1.00
R0416:Prr14l	UTSW	5	32,986,061 (GRCm39)	missense	probably benign	0.25
R0480:Prr14l	UTSW	5	32,987,224 (GRCm39)	missense	probably benign	0.02
R0511:Prr14l	UTSW	5	33,001,560 (GRCm39)	intron	probably benign
R0639:Prr14l	UTSW	5	32,986,259 (GRCm39)	missense	probably benign	0.02
R0673:Prr14l	UTSW	5	32,986,259 (GRCm39)	missense	probably benign	0.02
R0743:Prr14l	UTSW	5	32,988,538 (GRCm39)	missense	possibly damaging	0.55
R0792:Prr14l	UTSW	5	32,985,767 (GRCm39)	missense	probably damaging	1.00
R1006:Prr14l	UTSW	5	32,986,826 (GRCm39)	missense	probably benign	0.00
R1342:Prr14l	UTSW	5	32,987,604 (GRCm39)	missense	probably damaging	1.00
R1433:Prr14l	UTSW	5	32,986,177 (GRCm39)	missense	probably damaging	1.00
R1527:Prr14l	UTSW	5	32,985,293 (GRCm39)	missense	possibly damaging	0.75
R1704:Prr14l	UTSW	5	32,987,626 (GRCm39)	missense	probably benign	0.01
R1967:Prr14l	UTSW	5	33,001,813 (GRCm39)	intron	probably benign
R2129:Prr14l	UTSW	5	32,989,172 (GRCm39)	unclassified	probably benign
R2150:Prr14l	UTSW	5	32,988,046 (GRCm39)	missense	probably benign	0.14
R2318:Prr14l	UTSW	5	32,987,422 (GRCm39)	missense	probably benign	0.04
R2915:Prr14l	UTSW	5	32,987,112 (GRCm39)	missense	probably benign	0.04
R3551:Prr14l	UTSW	5	32,985,963 (GRCm39)	splice site	probably null
R3820:Prr14l	UTSW	5	32,986,328 (GRCm39)	missense	probably damaging	0.99
R3852:Prr14l	UTSW	5	32,987,689 (GRCm39)	missense	probably damaging	1.00
R4126:Prr14l	UTSW	5	32,985,347 (GRCm39)	missense	probably damaging	0.97
R4345:Prr14l	UTSW	5	32,985,920 (GRCm39)	missense	probably damaging	1.00
R4388:Prr14l	UTSW	5	32,986,598 (GRCm39)	missense	probably damaging	1.00
R4575:Prr14l	UTSW	5	32,950,988 (GRCm39)	missense	probably damaging	1.00
R4596:Prr14l	UTSW	5	32,986,652 (GRCm39)	missense	probably benign	0.01
R4690:Prr14l	UTSW	5	33,001,500 (GRCm39)	intron	probably benign
R4824:Prr14l	UTSW	5	33,001,743 (GRCm39)	intron	probably benign
R4868:Prr14l	UTSW	5	32,987,281 (GRCm39)	missense	probably benign	0.04
R4869:Prr14l	UTSW	5	32,986,177 (GRCm39)	missense	probably damaging	1.00
R5201:Prr14l	UTSW	5	32,987,591 (GRCm39)	missense	possibly damaging	0.52
R5328:Prr14l	UTSW	5	32,987,365 (GRCm39)	missense	probably benign	0.00
R5410:Prr14l	UTSW	5	32,985,121 (GRCm39)	missense	probably damaging	0.98
R5476:Prr14l	UTSW	5	33,001,482 (GRCm39)	intron	probably benign
R5623:Prr14l	UTSW	5	33,001,852 (GRCm39)	intron	probably benign
R5730:Prr14l	UTSW	5	32,950,947 (GRCm39)	missense	probably damaging	1.00
R6261:Prr14l	UTSW	5	32,986,748 (GRCm39)	missense	possibly damaging	0.46
R6283:Prr14l	UTSW	5	32,987,608 (GRCm39)	missense	probably benign	0.14
R6307:Prr14l	UTSW	5	32,984,869 (GRCm39)	missense	probably damaging	0.97
R6825:Prr14l	UTSW	5	32,985,892 (GRCm39)	missense	possibly damaging	0.86
R6862:Prr14l	UTSW	5	32,985,103 (GRCm39)	missense	probably damaging	1.00
R6880:Prr14l	UTSW	5	32,988,211 (GRCm39)	missense	probably benign	0.01
R6931:Prr14l	UTSW	5	32,988,035 (GRCm39)	missense	probably damaging	0.98
R7101:Prr14l	UTSW	5	32,986,771 (GRCm39)	missense	probably damaging	1.00
R7164:Prr14l	UTSW	5	32,986,510 (GRCm39)	missense	probably damaging	1.00
R7203:Prr14l	UTSW	5	32,984,489 (GRCm39)	missense	probably benign	0.34
R7211:Prr14l	UTSW	5	32,987,431 (GRCm39)	missense	probably damaging	0.98
R7305:Prr14l	UTSW	5	32,988,445 (GRCm39)	missense	probably benign	0.14
R7346:Prr14l	UTSW	5	32,988,028 (GRCm39)	missense	probably benign	0.17
R7395:Prr14l	UTSW	5	32,985,982 (GRCm39)	missense	probably benign	0.00
R7624:Prr14l	UTSW	5	32,986,967 (GRCm39)	missense	possibly damaging	0.54
R7649:Prr14l	UTSW	5	32,985,589 (GRCm39)	missense	probably benign	0.18
R7753:Prr14l	UTSW	5	32,984,597 (GRCm39)	missense	probably damaging	1.00
R7828:Prr14l	UTSW	5	33,001,735 (GRCm39)	intron	probably benign
R7898:Prr14l	UTSW	5	32,987,310 (GRCm39)	missense	probably benign	0.04
R8071:Prr14l	UTSW	5	32,988,508 (GRCm39)	missense	probably benign	0.02
R9052:Prr14l	UTSW	5	32,987,478 (GRCm39)	nonsense	probably null
R9136:Prr14l	UTSW	5	32,986,080 (GRCm39)	missense
R9682:Prr14l	UTSW	5	32,988,023 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTTGTGTGCAACCAGGGCTC -3'
(R):5'- CCATCCTGAGAAACGCTCTG -3'

Sequencing Primer
(F):5'- GGAGAACGTTTACTCATCTCACAGG -3'
(R):5'- GCTCTGAGGAAAGCAGCTTTTCC -3'

Posted On

2017-06-26