Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Rp1l1'

534883

Institutional Source

Beutler Lab

Gene Symbol

Rp1l1

Ensembl Gene

ENSMUSG00000046049

Gene Name

retinitis pigmentosa 1 homolog like 1

Synonyms

Dcdc4, Rp1hl1

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64229880-64270955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64265667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 418 (Q418K)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058229]

AlphaFold

Q8CGM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058229
AA Change: Q418K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: Q418K

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
DCX	37	121	1.58e-13	SMART
DCX	155	239	1e-15	SMART
low complexity region	709	728	N/A	INTRINSIC
low complexity region	870	884	N/A	INTRINSIC
low complexity region	1159	1177	N/A	INTRINSIC
low complexity region	1228	1239	N/A	INTRINSIC
low complexity region	1612	1618	N/A	INTRINSIC
low complexity region	1642	1652	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,487 (GRCm39)	N290S	probably damaging	Het
Acox3	G	T	5: 35,749,528 (GRCm39)	G218C	probably damaging	Het
Acsf3	G	A	8: 123,517,329 (GRCm39)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,840,335 (GRCm39)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,063,928 (GRCm39)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,535,451 (GRCm39)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Casp16	A	T	17: 23,770,053 (GRCm39)	C175*	probably null	Het
Cast	T	C	13: 74,844,052 (GRCm39)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,144,954 (GRCm39)	R100H	probably benign	Het
Cep72	C	T	13: 74,186,395 (GRCm39)	A259T	possibly damaging	Het
Chsy1	T	A	7: 65,820,785 (GRCm39)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,220,608 (GRCm39)	S182P	probably benign	Het
Crlf2	A	C	5: 109,704,897 (GRCm39)	F103V	possibly damaging	Het
Dync2h1	T	C	9: 7,159,632 (GRCm39)	N652S	probably benign	Het
Ephx4	G	A	5: 107,574,784 (GRCm39)	G274D	probably damaging	Het
Fer	T	A	17: 64,298,601 (GRCm39)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gata3	T	A	2: 9,863,339 (GRCm39)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm39)	V79M	probably damaging	Het
Grk3	A	C	5: 113,133,641 (GRCm39)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igf1r	T	G	7: 67,653,927 (GRCm39)	I155R	probably damaging	Het
Igsf9	T	C	1: 172,323,329 (GRCm39)	L681P	probably damaging	Het
Intu	T	C	3: 40,648,685 (GRCm39)	M789T	probably benign	Het
Kit	A	T	5: 75,767,872 (GRCm39)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,355,750 (GRCm39)	C325*	probably null	Het
Mcidas	A	G	13: 113,130,419 (GRCm39)	E5G	probably benign	Het
Mcm5	G	T	8: 75,853,918 (GRCm39)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 75,963,332 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,084 (GRCm39)	I655T	probably damaging	Het
Nsun4	T	C	4: 115,910,131 (GRCm39)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,490,615 (GRCm39)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,804,514 (GRCm39)	V165E	possibly damaging	Het
Or6d14	T	C	6: 116,533,736 (GRCm39)	S117P	probably damaging	Het
Pank2	C	A	2: 131,124,546 (GRCm39)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,704,690 (GRCm39)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,457,959 (GRCm39)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,756,246 (GRCm39)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Pwp2	C	G	10: 78,020,127 (GRCm39)		probably null	Het
Rbms3	A	G	9: 117,080,809 (GRCm39)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 26,055,158 (GRCm39)	K17*	probably null	Het
Scpppq1	A	G	5: 104,222,603 (GRCm39)		probably benign	Het
Slc22a4	A	T	11: 53,898,615 (GRCm39)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,849,777 (GRCm39)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,551,544 (GRCm39)	M279T	probably damaging	Het
Tmem163	A	T	1: 127,479,117 (GRCm39)	V134D	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpd52l1	T	C	10: 31,208,853 (GRCm39)	E205G	probably benign	Het
Tpsb2	T	A	17: 25,586,802 (GRCm39)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,138 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,801,840 (GRCm39)	M154V	probably benign	Het
Zfp740	T	G	15: 102,117,243 (GRCm39)	I89S	probably benign	Het

Other mutations in Rp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Rp1l1	APN	14	64,266,174 (GRCm39)	missense	probably benign	0.01
IGL02063:Rp1l1	APN	14	64,266,985 (GRCm39)	missense	probably damaging	0.99
IGL02132:Rp1l1	APN	14	64,266,259 (GRCm39)	missense	probably benign
IGL02430:Rp1l1	APN	14	64,266,735 (GRCm39)	missense	probably benign	0.00
IGL02977:Rp1l1	APN	14	64,265,599 (GRCm39)	missense	probably benign	0.01
IGL03213:Rp1l1	APN	14	64,265,864 (GRCm39)	missense	probably damaging	0.98
IGL03346:Rp1l1	APN	14	64,266,889 (GRCm39)	missense	probably benign
R0085:Rp1l1	UTSW	14	64,259,744 (GRCm39)	missense	probably damaging	0.99
R0347:Rp1l1	UTSW	14	64,268,253 (GRCm39)	nonsense	probably null
R0362:Rp1l1	UTSW	14	64,268,515 (GRCm39)	nonsense	probably null
R0369:Rp1l1	UTSW	14	64,266,837 (GRCm39)	missense	possibly damaging	0.84
R0538:Rp1l1	UTSW	14	64,259,541 (GRCm39)	missense	probably damaging	1.00
R0544:Rp1l1	UTSW	14	64,269,515 (GRCm39)	missense	probably benign	0.00
R0780:Rp1l1	UTSW	14	64,267,800 (GRCm39)	missense	possibly damaging	0.94
R0944:Rp1l1	UTSW	14	64,269,681 (GRCm39)	missense	probably benign	0.05
R1051:Rp1l1	UTSW	14	64,269,984 (GRCm39)	missense	probably damaging	0.99
R1126:Rp1l1	UTSW	14	64,267,918 (GRCm39)	missense	probably damaging	1.00
R1450:Rp1l1	UTSW	14	64,265,599 (GRCm39)	missense	probably benign	0.01
R1483:Rp1l1	UTSW	14	64,266,496 (GRCm39)	missense	possibly damaging	0.76
R1508:Rp1l1	UTSW	14	64,268,341 (GRCm39)	missense	possibly damaging	0.83
R1553:Rp1l1	UTSW	14	64,269,343 (GRCm39)	missense	probably benign	0.00
R1651:Rp1l1	UTSW	14	64,268,442 (GRCm39)	missense	probably damaging	0.97
R1682:Rp1l1	UTSW	14	64,266,417 (GRCm39)	missense	probably damaging	0.98
R1809:Rp1l1	UTSW	14	64,265,415 (GRCm39)	missense	probably benign	0.18
R1885:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1887:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1898:Rp1l1	UTSW	14	64,269,039 (GRCm39)	missense	probably benign	0.04
R1924:Rp1l1	UTSW	14	64,268,992 (GRCm39)	missense	probably benign
R1939:Rp1l1	UTSW	14	64,267,042 (GRCm39)	missense	probably benign
R1941:Rp1l1	UTSW	14	64,259,701 (GRCm39)	missense	probably damaging	1.00
R2129:Rp1l1	UTSW	14	64,266,415 (GRCm39)	missense	possibly damaging	0.93
R2363:Rp1l1	UTSW	14	64,267,447 (GRCm39)	missense	possibly damaging	0.55
R3894:Rp1l1	UTSW	14	64,266,756 (GRCm39)	missense	probably benign
R3974:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3975:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3976:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R4072:Rp1l1	UTSW	14	64,265,581 (GRCm39)	missense	probably damaging	1.00
R4672:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4673:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4749:Rp1l1	UTSW	14	64,267,249 (GRCm39)	missense	probably damaging	0.99
R4755:Rp1l1	UTSW	14	64,267,519 (GRCm39)	missense	probably benign	0.34
R4877:Rp1l1	UTSW	14	64,263,620 (GRCm39)	missense	probably benign	0.00
R4930:Rp1l1	UTSW	14	64,269,655 (GRCm39)	missense	probably benign
R5039:Rp1l1	UTSW	14	64,268,805 (GRCm39)	missense	probably benign	0.21
R5106:Rp1l1	UTSW	14	64,265,395 (GRCm39)	missense	probably damaging	1.00
R5184:Rp1l1	UTSW	14	64,267,629 (GRCm39)	missense	probably damaging	1.00
R5215:Rp1l1	UTSW	14	64,267,462 (GRCm39)	missense	probably benign	0.01
R5409:Rp1l1	UTSW	14	64,268,070 (GRCm39)	missense	probably benign	0.02
R5575:Rp1l1	UTSW	14	64,268,433 (GRCm39)	missense	probably benign	0.23
R5696:Rp1l1	UTSW	14	64,267,195 (GRCm39)	missense	probably damaging	0.99
R5739:Rp1l1	UTSW	14	64,269,619 (GRCm39)	missense	probably benign	0.01
R5878:Rp1l1	UTSW	14	64,266,355 (GRCm39)	missense	probably benign	0.09
R6133:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6134:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6135:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6428:Rp1l1	UTSW	14	64,269,838 (GRCm39)	missense	possibly damaging	0.92
R6594:Rp1l1	UTSW	14	64,269,126 (GRCm39)	nonsense	probably null
R6736:Rp1l1	UTSW	14	64,267,173 (GRCm39)	missense	possibly damaging	0.93
R6800:Rp1l1	UTSW	14	64,268,599 (GRCm39)	missense	possibly damaging	0.92
R6878:Rp1l1	UTSW	14	64,269,301 (GRCm39)	missense	probably benign	0.00
R6922:Rp1l1	UTSW	14	64,267,834 (GRCm39)	missense	possibly damaging	0.93
R6980:Rp1l1	UTSW	14	64,266,169 (GRCm39)	missense	probably benign	0.02
R7053:Rp1l1	UTSW	14	64,268,958 (GRCm39)	missense	possibly damaging	0.68
R7151:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	possibly damaging	0.73
R7291:Rp1l1	UTSW	14	64,269,747 (GRCm39)	missense	probably benign	0.10
R7335:Rp1l1	UTSW	14	64,269,447 (GRCm39)	missense	probably benign	0.00
R7344:Rp1l1	UTSW	14	64,267,069 (GRCm39)	missense	probably benign	0.00
R7470:Rp1l1	UTSW	14	64,266,015 (GRCm39)	missense	probably benign
R7570:Rp1l1	UTSW	14	64,269,023 (GRCm39)	nonsense	probably null
R7585:Rp1l1	UTSW	14	64,267,588 (GRCm39)	missense	probably damaging	0.96
R7591:Rp1l1	UTSW	14	64,263,558 (GRCm39)	missense	probably damaging	1.00
R7667:Rp1l1	UTSW	14	64,267,252 (GRCm39)	missense	probably benign	0.04
R7862:Rp1l1	UTSW	14	64,265,476 (GRCm39)	missense	probably damaging	1.00
R7935:Rp1l1	UTSW	14	64,268,674 (GRCm39)	missense	probably damaging	0.99
R8256:Rp1l1	UTSW	14	64,265,602 (GRCm39)	missense	probably benign	0.18
R8403:Rp1l1	UTSW	14	64,266,258 (GRCm39)	missense	probably benign	0.21
R8709:Rp1l1	UTSW	14	64,269,295 (GRCm39)	missense	probably damaging	0.98
R8817:Rp1l1	UTSW	14	64,268,085 (GRCm39)	missense	probably benign
R8971:Rp1l1	UTSW	14	64,259,445 (GRCm39)	missense	probably damaging	1.00
R9380:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	probably benign	0.29
R9438:Rp1l1	UTSW	14	64,265,574 (GRCm39)	missense	possibly damaging	0.90
R9501:Rp1l1	UTSW	14	64,266,039 (GRCm39)	missense	probably benign	0.00
R9652:Rp1l1	UTSW	14	64,269,714 (GRCm39)	missense	probably damaging	1.00
R9683:Rp1l1	UTSW	14	64,269,126 (GRCm39)	missense	probably damaging	0.97
X0057:Rp1l1	UTSW	14	64,267,489 (GRCm39)	missense	probably benign	0.14
X0063:Rp1l1	UTSW	14	64,266,672 (GRCm39)	missense	probably damaging	0.98
Z1088:Rp1l1	UTSW	14	64,267,827 (GRCm39)	missense	probably benign	0.01
Z1088:Rp1l1	UTSW	14	64,266,207 (GRCm39)	missense	possibly damaging	0.80
Z1176:Rp1l1	UTSW	14	64,266,593 (GRCm39)	missense	probably damaging	1.00
Z1177:Rp1l1	UTSW	14	64,269,746 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGATGAAAGTCCGCTTCCAAC -3'
(R):5'- GAGACTCGGCTGAGATTATCC -3'

Sequencing Primer
(F):5'- GATGAAAGTCCGCTTCCAACTTCTG -3'
(R):5'- AGACTCGGCTGAGATTATCCTTGTC -3'

Posted On

2018-09-12