Mutagenetix > Incidental Mutation

Incidental Mutation 'R6135:Rp1l1'

488313

Institutional Source

Beutler Lab

Gene Symbol

Rp1l1

Ensembl Gene

ENSMUSG00000046049

Gene Name

retinitis pigmentosa 1 homolog like 1

Synonyms

Dcdc4, Rp1hl1

MMRRC Submission

044282-MU

Accession Numbers

Essential gene?

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

Stock #

R6135 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

64229880-64270955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64267545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1044 (P1044S)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

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

AlphaFold

Q8CGM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000058229
AA Change: P1044S

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

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: P1044S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224314

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,402,335 (GRCm39)	E95G	probably damaging	Het
Abca4	C	T	3: 121,932,096 (GRCm39)	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,845,020 (GRCm39)	R375H	probably benign	Het
Aimp1	T	C	3: 132,377,844 (GRCm39)	K174E	probably benign	Het
Aire	A	G	10: 77,878,801 (GRCm39)	L82P	probably damaging	Het
Akap13	T	A	7: 75,259,656 (GRCm39)	V760D	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Carf	C	T	1: 60,187,122 (GRCm39)	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,473,087 (GRCm39)	M172K	probably benign	Het
Chpt1	A	T	10: 88,318,145 (GRCm39)	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,293,018 (GRCm39)	D65N	possibly damaging	Het
Cnga3	G	A	1: 37,271,318 (GRCm39)		probably benign	Het
Col14a1	A	G	15: 55,244,246 (GRCm39)	T440A	unknown	Het
Creb3l3	A	G	10: 80,921,552 (GRCm39)	I331T	probably benign	Het
Cul9	T	C	17: 46,832,379 (GRCm39)	T1410A	probably benign	Het
Dnm1	T	A	2: 32,223,075 (GRCm39)		probably null	Het
Fhl5	A	T	4: 25,214,716 (GRCm39)	Y20*	probably null	Het
Fignl1	T	C	11: 11,752,557 (GRCm39)	D166G	probably benign	Het
Ghr	T	C	15: 3,355,447 (GRCm39)	I279V	probably benign	Het
Gm1979	T	G	5: 26,205,298 (GRCm39)	S180R	probably damaging	Het
Hydin	T	C	8: 111,189,292 (GRCm39)	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,298,508 (GRCm39)		probably null	Het
Inpp5d	A	G	1: 87,548,119 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnh2	T	A	5: 24,526,791 (GRCm39)	S1002C	probably damaging	Het
Krt87	T	A	15: 101,385,415 (GRCm39)	E319V	probably damaging	Het
Lbp	A	G	2: 158,159,469 (GRCm39)	I201V	probably benign	Het
Man1a2	G	A	3: 100,592,248 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,188,326 (GRCm39)	T996A	possibly damaging	Het
Nat10	A	G	2: 103,573,661 (GRCm39)	L319P	probably damaging	Het
Nelfa	A	G	5: 34,056,620 (GRCm39)		probably null	Het
Or5b97	A	C	19: 12,878,803 (GRCm39)	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,138,870 (GRCm39)	N166K	probably damaging	Het
Pcdha6	C	A	18: 37,102,269 (GRCm39)	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,415,460 (GRCm39)	D91G	possibly damaging	Het
Pigp	A	G	16: 94,171,065 (GRCm39)	F22L	probably benign	Het
Pnpla8	A	C	12: 44,329,670 (GRCm39)	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,448,980 (GRCm39)	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,693,430 (GRCm39)	D645G	probably damaging	Het
Rnf213	G	A	11: 119,332,854 (GRCm39)	V2688I	probably benign	Het
Rnf43	A	G	11: 87,622,951 (GRCm39)	H557R	probably damaging	Het
Rrp9	G	A	9: 106,360,221 (GRCm39)	D210N	probably damaging	Het
Scin	G	T	12: 40,129,807 (GRCm39)	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,534,244 (GRCm39)	H477L	probably benign	Het
Slc26a8	A	T	17: 28,888,914 (GRCm39)	M195K	probably benign	Het
Spata13	A	G	14: 60,993,877 (GRCm39)	K1110E	probably damaging	Het
Spata24	T	A	18: 35,793,503 (GRCm39)	E103V	probably damaging	Het
Srek1	T	C	13: 103,910,894 (GRCm39)	N25S	probably damaging	Het
Strada	T	C	11: 106,064,140 (GRCm39)	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,626,831 (GRCm39)	W1143R	probably damaging	Het
Trip12	A	T	1: 84,738,559 (GRCm39)	D765E	probably benign	Het
Ttbk2	G	A	2: 120,580,798 (GRCm39)	R444C	probably damaging	Het
Ush2a	T	A	1: 188,644,303 (GRCm39)	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,838,045 (GRCm39)	E2500K	probably benign	Het
Vps16	A	G	2: 130,280,573 (GRCm39)	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,693,668 (GRCm39)	H2719L	probably damaging	Het
Zfhx2	T	C	14: 55,311,653 (GRCm39)	D347G	possibly damaging	Het
Zfp653	G	A	9: 21,969,558 (GRCm39)	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 10,799,913 (GRCm39)	H325Q	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
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
R6848:Rp1l1	UTSW	14	64,265,667 (GRCm39)	missense	possibly damaging	0.79
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'- AAGGGGCTACCAATGAGCAC -3'
(R):5'- CCTGGTACTTAGGGGACTCTTC -3'

Sequencing Primer
(F):5'- GGCTACCAATGAGCACCCAGAG -3'
(R):5'- GTACTTAGGGGACTCTTCAAGCC -3'

Posted On

2017-10-10